Cell death-inducing DFFA-like effector C–related familial partial lipodystrophy (CIDEC-related FPLD) is a very rare inherited disease where a change (mutation) in the CIDEC gene makes fat cells unable to store fat in the normal way.[1] In this condition, fat is lost from the legs and buttocks but is often kept or even increased around the abdomen, neck and armpits. Because fat cannot be stored safely under the skin, it moves into the liver, muscles and other organs and causes insulin resistance, early type 2 diabetes, high triglycerides and fatty liver disease.[1][2] Over time, people are at risk of pancreatitis, liver inflammation, high blood pressure and heart disease if these problems are not treated carefully.[2][3] There is no cure yet, so treatment focuses on lifestyle, medicines and sometimes surgery to control complications and protect long-term health.[2][4]
Cell death inducing DFFA-like effector C–related familial partial lipodystrophy is a very rare genetic disease in which the body cannot store fat in a normal way in some parts of the body. It mainly affects the fat under the skin of the legs, buttocks, and lower body, while fat in the inside of the belly (visceral fat), neck, and armpits is often kept or even increased.
This condition is caused by harmful changes (mutations) in a gene called CIDEC (cell death-inducing DFFA-like effector C). The CIDEC protein helps fat cells join small fat droplets together into one big droplet so the body can safely store energy. When CIDEC does not work, fat cannot be stored properly under the skin and moves to the liver and other organs instead.
Because only a few people with this exact gene problem have been described in medical reports, doctors still know only a small amount about its full range of symptoms and long-term outlook. However, the people reported had severe insulin-resistant diabetes, very high blood fats, fatty liver, and high blood pressure along with the unusual pattern of fat loss and fat gain.
Other names
Doctors and researchers use several other names for this same condition. One common name is familial partial lipodystrophy type 5 (FPLD5). “Familial” means it runs in families, “partial” means only some parts of the body are affected, and “type 5” is the number given to this subtype.
Another name is CIDEC-related familial partial lipodystrophy. This name reminds us that the main problem is a disease-causing mutation in the CIDEC gene. Some scientific databases also call it CIDEC-related FPLD or familial partial lipodystrophy associated with CIDEC mutations. All of these names describe the same rare disorder.
Types
Doctors have only reported a very small number of patients with CIDEC-related familial partial lipodystrophy, possibly just one family in detailed scientific reports. Because of this, there are no officially agreed medical subtypes of this condition yet. Instead, experts mainly describe it by its gene (CIDEC) and its pattern of fat loss and metabolic problems.
However, in real life doctors may still group patients into practical “patterns” to help with care. These patterns are not official types but are useful for thinking about the disease:
Classic pattern – fat is missing mainly from the legs, buttocks, and lower belly, while fat inside the abdomen and in the neck is kept or increased.
Metabolic-dominant pattern – diabetes, very high triglycerides, fatty liver, and high blood pressure are very strong, even if body-shape changes look milder.
Overlap pattern with other lipodystrophies – some people with FPLD in general may have changes in more than one fat-related gene, so their body shape and lab results may look like a mix of several lipodystrophy types.
Again, these patterns are teaching tools and not formal types. They depend on the exact gene change, age, sex, and lifestyle of each person.
Causes and risk factors
The main true cause of this disease is a harmful change (mutation) in both copies of the CIDEC gene. All other “causes” described below are better understood as factors that explain how or why the disease appears and how severe it becomes, not separate diseases.
Autosomal recessive CIDEC mutation
The key cause is an autosomal recessive mutation in the CIDEC gene, which means a person must inherit one faulty copy from each parent. When both copies are changed, the CIDEC protein cannot work normally in fat cells, and the partial lipodystrophy pattern appears.Loss of function of CIDEC protein
In reported patients, the mutation leads to a “loss of function,” where the protein loses its normal ability to help fat droplets fuse and grow. This loss of function explains the poor fat storage under the skin and the movement of fat to organs.Damage to the CIDE-C domain
The CIDEC protein has a CIDE-C domain that is important for its action on fat droplets. A truncating mutation that cuts off this domain stops the protein from reaching and working on lipid droplets correctly, which contributes to lipodystrophy.Abnormal lipid droplet fusion in fat cells
Normally, CIDEC helps small lipid droplets in fat cells join into a single large droplet, making energy storage efficient and safe. When CIDEC is defective, small droplets remain and fat is not stored properly in the subcutaneous tissue, so fat is redirected to the liver and muscles.Parental carrier status
Parents of an affected person are usually healthy carriers with one normal and one mutated CIDEC gene. When both parents are carriers, there is a 25% chance in each pregnancy for the child to inherit both mutated genes and develop the disease.Consanguinity (related parents)
If parents are blood relatives (for example, cousins), they are more likely to carry the same rare CIDEC mutation. This raises the chance that their child will inherit two copies of that mutation and develop the disorder.Other genetic modifiers
The severity of lipodystrophy and metabolic problems is influenced by other genes that control fat storage and insulin sensitivity. Variants in genes like PPARG, LMNA, PLIN1, or others may change how strongly the CIDEC mutation shows in the body.Sex (being female often more affected visibly)
In many familial partial lipodystrophy syndromes, women show more striking fat loss and metabolic problems than men, possibly because of hormone differences and body-fat patterns. This may also influence how CIDEC-related FPLD appears.High-calorie, high-fat diet
A diet rich in calories and saturated fat can worsen insulin resistance and high triglyceride levels in people with any lipodystrophy. In CIDEC-related FPLD, such a diet can make diabetes and liver fat much more severe because the body already cannot store fat properly.Low physical activity
Lack of regular exercise can raise insulin resistance and blood lipids even without a genetic disease. For someone with CIDEC-related FPLD, inactivity adds to the genetic problem and can speed up diabetes and heart risk.Puberty and hormonal changes
Many familial partial lipodystrophy syndromes become more obvious at puberty, when sex hormones and body composition change quickly. Puberty can reveal hidden problems in fat distribution and may be the time when the body shape and blood tests clearly change.Pregnancy-related metabolic stress
In women, pregnancy naturally increases insulin resistance. If a woman has CIDEC-related FPLD, this extra stress can make high blood sugar, high triglycerides, and fatty liver worse, revealing the underlying genetic problem.Coexisting obesity or overweight
Even though there is a lack of normal fat under the skin in some areas, people with lipodystrophy can still be overweight in other regions, especially in the abdomen. Extra overall fat further worsens insulin resistance and high blood fat levels.Insulin resistance from other causes
Factors like long-term overeating, certain medications, or other endocrine conditions can also cause insulin resistance. When they coexist with CIDEC-related FPLD, they add to the insulin-resistant diabetes picture.Fatty liver (hepatic steatosis)
Because subcutaneous fat storage is poor, extra fat goes to the liver, causing fatty liver. Fatty liver is not the original cause of the disease, but it becomes a major driver of inflammation, high liver enzymes, and long-term liver damage.Very high triglyceride levels
Triglycerides in the blood often become very high in familial partial lipodystrophy. This is a downstream effect of poor fat storage, but it then causes further problems, such as pancreatitis and increased cardiovascular risk.High blood pressure (hypertension)
Hypertension is a common complication in lipodystrophy syndromes. It may reflect damage to blood vessels from long-term insulin resistance, high blood fats, and kidney strain, and it increases the risk of heart and kidney disease.Pancreatitis triggered by high triglycerides
When triglycerides are extremely high, fat particles can inflame the pancreas and cause pancreatitis. This is again not the original cause of lipodystrophy but a serious complication that further harms health and may worsen diabetes control.Intra-uterine environment (mother’s health in pregnancy)
If the mother has diabetes, obesity, or poor metabolic health during pregnancy, the baby may be exposed to high sugar and fat levels in the womb. For a baby carrying CIDEC mutations, this environment may influence how strongly the disease appears later.Unknown or still-unidentified factors
Because so few patients have been reported, there may be other genetic, hormonal, or environmental factors that change the severity or timing of symptoms in CIDEC-related FPLD. Research in lipodystrophy genetics is active, and new modifiers are still being found.
Symptoms
Loss of fat from legs and buttocks
One of the main signs is a marked lack of fat in the legs, hips, and buttocks, giving them a thin or muscular look even if the person does not exercise heavily. This is because subcutaneous fat cells in these areas cannot store fat normally.Preserved or increased fat in neck and trunk
In contrast, fat inside the belly, around the organs, and in areas like the neck and armpits is often preserved or increased. This uneven pattern makes the body shape look unusual, with a thinner lower body and relatively fuller trunk and neck.Muscular or “veiny” appearance of limbs
Because fat under the skin is missing, the muscles and veins in the arms and legs can look more visible than normal. This may make the person look very athletic even if they do not do much exercise.Acanthosis nigricans (dark, thick skin folds)
Many people develop dark, thick, velvety patches of skin around the neck, armpits, or groin. This is called acanthosis nigricans and is a sign of severe insulin resistance and high insulin levels in the blood.Insulin-resistant type 2 diabetes
Almost all reported patients with CIDEC-related lipodystrophy develop severe type 2 diabetes at a relatively young age. The body makes insulin, but the cells do not respond well, so blood sugar stays high and needs strong treatment.Very high triglyceride levels (hypertriglyceridemia)
Blood tests often show very high levels of triglycerides. Because fat cannot be stored well in subcutaneous tissue, it stays in the blood as triglyceride-rich particles, which raises the risk of pancreatitis and heart disease.Fatty liver (hepatic steatosis)
Fat that cannot be stored under the skin moves into the liver cells, causing fatty liver. Over time this can lead to enlarged liver, raised liver enzymes, and in some people inflammation or scarring of the liver.Enlarged liver (hepatomegaly)
An ultrasound or physical exam may find that the liver is bigger than normal. The enlargement is usually due to the fat build-up and sometimes inflammation inside the liver.High blood pressure (hypertension)
Many patients with familial partial lipodystrophy, including the CIDEC-related form, develop high blood pressure, which further increases cardiovascular risk and may cause headaches or no symptoms at all.Pancreatitis (inflammation of the pancreas)
Extremely high triglyceride levels can trigger pancreatitis, which causes severe upper abdominal pain, nausea, and vomiting. This is a dangerous complication and may be the first time the lipodystrophy is noticed in some people.Early-onset metabolic syndrome
People with this condition often show several features of metabolic syndrome (large waist from visceral fat, high blood pressure, high triglycerides, low HDL cholesterol, and high blood sugar) at a much younger age than usual.Fatigue and weakness
Poorly controlled diabetes and liver problems can cause tiredness, low energy, and sometimes muscle weakness. This may limit daily activities and quality of life even when the person looks muscular on the outside.Polycystic ovary-like features in women
Women with severe insulin resistance and lipodystrophy can develop irregular periods, excess body hair, and polycystic-appearing ovaries, similar to polycystic ovary syndrome (PCOS). This can affect fertility and hormone balance.High risk of early heart and blood vessel disease
The combination of diabetes, high triglycerides, low HDL cholesterol, fatty liver, and high blood pressure puts patients at high risk of early heart disease and stroke if not treated aggressively.Psychological and body-image concerns
Because the body shape is different and the disease is chronic, some people may feel embarrassed, anxious, or depressed about their appearance or long-term health. Psychological support can be an important part of care.
Diagnostic tests
Doctors use a mix of physical exam, manual measurements, laboratory tests, electrodiagnostic tests, and imaging studies to diagnose CIDEC-related familial partial lipodystrophy and to check its complications.
Physical exam tests
Full body examination of fat distribution
The doctor looks carefully at the pattern of fat across the body, checking where fat is missing (legs, buttocks, lower trunk) and where it is preserved or increased (visceral area, neck, axillae). This pattern raises suspicion for familial partial lipodystrophy.Blood pressure measurement
Measuring blood pressure with a cuff helps detect hypertension, which is common in lipodystrophy syndromes and adds to heart and kidney risk if not treated.Body mass index (BMI) and general anthropometry
Height and weight are used to calculate BMI, and the doctor evaluates overall build. Even if BMI is normal or high, the unusual regional fat loss may still suggest partial lipodystrophy, so BMI is interpreted together with visual exam.Skin examination for acanthosis nigricans
The doctor inspects the neck, armpits, and skin folds for dark, velvety patches of skin. These patches strongly suggest insulin resistance, which is a central part of the metabolic picture in CIDEC-related FPLD.
Manual tests
Waist and hip circumference measurement
The doctor measures the waist and hip with a tape measure and calculates the waist-to-hip ratio. A high waist-to-hip ratio indicates central (visceral) fat, which is typical in partial lipodystrophy even when the legs and buttocks look very lean.Skinfold thickness (caliper) testing
Using skinfold calipers at standard sites (such as triceps, thigh, supra-iliac area), the clinician measures how thick the fat layer is under the skin. Very low skinfolds in the limbs with relatively higher trunk readings support a diagnosis of partial lipodystrophy.Abdominal palpation for liver size
By gently feeling the abdomen, the doctor checks whether the liver edge can be felt below the rib cage. A liver that is easily felt or extends down suggests hepatomegaly, often due to fatty liver in this condition.Peripheral pulse and foot examination
Because of high cardiovascular risk and possible diabetes, the clinician checks pulses in the feet, looks for skin changes, and checks for ulcers. These findings help identify early vascular or neuropathic complications.
Lab and pathological tests
Fasting blood glucose and oral glucose tolerance test
Fasting blood sugar and sometimes a glucose tolerance test show how well the body handles sugar. Patients with CIDEC-related FPLD usually have high fasting glucose and an abnormal response to the glucose drink, confirming diabetes or prediabetes.Hemoglobin A1c (HbA1c)
HbA1c measures the average blood sugar level over the last 2–3 months. It helps diagnose diabetes and track how well treatment is working over time in people with insulin-resistant diabetes due to lipodystrophy.Fasting lipid profile (cholesterol and triglycerides)
A blood lipid panel checks total cholesterol, LDL, HDL, and triglycerides. In familial partial lipodystrophy, triglycerides are often very high and HDL is low, which strongly supports the diagnosis and guides treatment.Liver function tests (ALT, AST, GGT)
Blood tests for liver enzymes look for liver injury related to fatty liver or inflammation. Elevated ALT and AST in a person with lipodystrophy and metabolic syndrome suggest hepatic steatosis or steatohepatitis.Serum insulin and C-peptide levels
Measuring fasting insulin and C-peptide helps show how much insulin the body is making. In insulin-resistant diabetes due to lipodystrophy, insulin levels are often high at first, showing the pancreas is overworking to try to control high blood sugar.Leptin and adiponectin levels
Leptin levels may be low or inappropriately normal for the degree of fat loss, and adiponectin is often decreased in insulin-resistant states. These hormones are not diagnostic by themselves but help confirm that fat tissue and metabolism are not normal.Genetic testing for CIDEC mutations
The most specific test is DNA sequencing of the CIDEC gene to look for disease-causing mutations. When a known harmful mutation is found in both copies of the gene, it confirms the diagnosis of CIDEC-related familial partial lipodystrophy.Next-generation sequencing lipodystrophy panel
Many centers use a multi-gene panel that tests CIDEC along with other lipodystrophy genes such as LMNA, PPARG, PLIN1, and others. This approach can detect overlapping or alternative causes in patients with a similar clinical picture.Urine albumin and kidney function tests
Because long-term diabetes and hypertension can damage the kidneys, urine tests for albumin and blood creatinine are done to look for early kidney involvement. This helps guide treatment to protect kidney function.
Electrodiagnostic tests
Electrocardiogram (ECG)
An ECG records the electrical activity of the heart. It can detect heart rhythm problems, signs of heart strain, or old silent heart attacks, which are more likely in people with long-standing diabetes and high blood pressure.Ambulatory blood pressure monitoring
A portable blood pressure monitor can record readings over 24 hours, giving a more accurate picture of hypertension. This helps decide how strong blood pressure treatment should be in someone with lipodystrophy and high cardiovascular risk.
Imaging tests
Liver and abdominal ultrasound
An ultrasound scan of the abdomen is a simple, non-invasive way to see if the liver is enlarged and fatty. It can also check the pancreas for signs of pancreatitis and look at abdominal fat distribution.Whole-body MRI or DEXA for fat distribution
Whole-body MRI or DEXA scans can map how fat and lean tissue are spread across the body. These scans clearly show the loss of subcutaneous fat in the limbs and buttocks with preserved central fat, which is typical for familial partial lipodystrophy.
Non Pharmacological Treatments (Therapies and Other Approaches)
Specialist multidisciplinary care
People with CIDEC-related FPLD should be followed in a specialist clinic that knows about lipodystrophy, usually including an endocrinologist, liver doctor, dietitian and sometimes cardiologist.[2][3] This team can check blood sugar, lipids, liver, kidney and heart regularly and adjust treatment early before serious damage happens.[2][3] [2]Personalized medical nutrition therapy
A clinical dietitian designs a long-term eating plan that reduces total calories and unhealthy fats while keeping enough protein, vitamins and minerals.[2][5] The aim is not extreme dieting, but steady weight control, lower liver fat, better cholesterol and smoother blood sugar levels in a way the person can follow for life.[2][5] [2]Energy-reduced, low-fat diet
Guidelines for familial partial lipodystrophy recommend limiting saturated fat and sometimes overall fat intake to reduce very high triglycerides and fatty liver.[2][5][6] Calories are adjusted to maintain or slowly reduce weight, which can improve insulin resistance and lower the risk of pancreatitis from severe hypertriglyceridaemia.[2][6] [2]Low-glycaemic, high-fibre carbohydrate pattern
Choosing whole grains, legumes, vegetables and fruits instead of sugary drinks and refined starches slows the rise in blood sugar after meals.[2][5] High-fibre foods also help with fullness, weight control and can modestly improve cholesterol, which is important in lipodystrophy-related metabolic syndrome.[2][5] [2]Regular aerobic exercise
Walking, cycling, swimming or similar activities for at least 150 minutes per week can improve insulin sensitivity, blood pressure and triglyceride levels.[2][3] Even if body fat distribution does not look normal, muscles still respond to exercise and become better at using glucose and fat for energy.[2][3] [2]Resistance and strength training
Light weights or body-weight exercises 2–3 times per week help build muscle mass, which increases the body’s ability to use glucose and may improve resting metabolism.[2][6] Stronger muscles can also reduce fatigue and joint stress and support a more active lifestyle.[2] [2]Weight management and avoidance of weight gain
Although some people with familial partial lipodystrophy do not look typically “overweight”, gaining extra central fat usually worsens insulin resistance, fatty liver and lipid problems.[2][5] Careful calorie control, regular movement and monitoring of weight and waist size help protect metabolic health over time.[2][6] [2]Structured monitoring and self-management education
Teaching patients to check blood glucose (if diabetic), recognise symptoms of pancreatitis or liver disease, and understand their lab results allows earlier action.[2][3] Using diaries or apps to track food, activity and blood sugar can support daily decision-making and make clinic visits more effective.[3] [3]Blood pressure control through lifestyle
Reducing salt intake, eating more vegetables and fruits, exercising regularly and limiting alcohol all help lower blood pressure.[2][5] This is important because CIDEC-related FPLD can be linked with hypertension, which increases risks for stroke, heart attack and kidney disease.[1][2] [2]Liver-friendly lifestyle
Avoiding heavy alcohol use, managing weight, controlling diabetes and lipids and avoiding unnecessary liver-toxic medicines help slow progression of fatty liver disease.[2][20] People with lipodystrophy should be monitored for fibrosis or cirrhosis and referred early for specialist liver care if needed.[2][20] [3]Skin and acanthosis nigricans care
Dark, thick skin patches (acanthosis nigricans) on the neck or armpits reflect severe insulin resistance.[1] Gentle skincare, weight management and better insulin sensitivity can improve the appearance over time, while also lowering long-term diabetes risk.[1][2] [1]Foot care and neuropathy prevention
If diabetes is present, regular foot checks, comfortable footwear and daily inspection for sores or blisters are important.[2] Good foot care, plus glucose and lipid control, reduce the risk of nerve damage, ulcers and infections that might otherwise lead to disability.[2][3] [2]Psychological support and counselling
Unusual body shape, chronic disease and worries about complications can cause anxiety, low mood and social withdrawal.[2][23] Access to counselling, peer support groups and sometimes cognitive behavioural therapy can improve coping, treatment adherence and overall quality of life.[23] [3]Body-image and cosmetic support
Some people are very distressed by loss of fat in the legs or buttocks and fat accumulation in other areas.[2][21] Expert cosmetic advice (for example clothing, makeup, hair styling) and, where appropriate, referral for reconstructive options can support self-esteem and social functioning.[21] [3]Genetic counselling for patients and families
Because CIDEC-related FPLD is genetic, family members may carry the same mutation but have not yet been recognised.[1][19] Genetic counselling explains inheritance, offers testing to relatives and discusses options for pregnancy planning, so families can make informed decisions.[1][19] [1]Avoidance or careful use of aggravating medicines
Some drugs (for example high-dose steroids, certain antipsychotics) can worsen insulin resistance and lipids.[2][26] The specialist team reviews all medicines and, when possible, chooses alternatives with less metabolic impact, while still treating other conditions safely.[2][3] [3]Vaccination and infection-prevention habits
Good control of diabetes and liver disease reduces infection risk, but standard vaccinations (such as influenza, hepatitis B and pneumococcal where indicated) are also important.[2] Hand hygiene, dental care and early treatment of infections prevent extra stress on an already vulnerable metabolism.[2] [2]Sleep hygiene and stress management
Poor sleep and chronic stress can worsen insulin resistance and blood pressure.[2] Simple steps such as a regular sleep schedule, relaxing routines, and stress-reduction methods (breathing exercises, mindfulness, gentle yoga) support better metabolic control.[3] [3]Smoking cessation
Smoking further increases cardiovascular risk in people who already have diabetes, dyslipidaemia and hypertension.[2] Stopping smoking with support from counselling and local programmes significantly lowers the chance of heart attack and stroke and improves circulation.[2][29] [2]Regular long-term follow-up
Lifelong follow-up at least once a year (often more often) for blood tests and organ checks is essential, even when the person feels well.[2][3][28] Early identification of changes in liver tests, kidney function, heart structure or lipids allows timely adjustment of therapy and helps prevent serious complications.[2][28] [3]
Drug Treatments
Very important: No medicine is currently approved specifically for CIDEC-related familial partial lipodystrophy. Drugs are used to treat its complications such as diabetes, very high triglycerides, fatty liver and high blood pressure, according to expert lipodystrophy guidelines and standard diabetes and cardiovascular care.[2][20][28] Always follow a specialist’s advice for exact doses and combinations.
Metreleptin (Myalept – recombinant leptin analogue)
Metreleptin is a lab-made form of the hormone leptin, given by once-daily subcutaneous injection, that is FDA-approved for generalized lipodystrophy and sometimes used off-label in severe partial lipodystrophy.[4][11] It lowers triglycerides, improves blood sugar and reduces liver fat by replacing the missing leptin signal from fat tissue.[4][5][11] Common issues include injection-site reactions, low blood sugar (if diabetes medication is not adjusted), possible antibody formation and, rarely, lymphoma; close monitoring under a REMS program is required.[11][20][5] [4]Metformin (biguanide)
Metformin is an oral medicine taken once or twice daily with food that reduces glucose production by the liver and improves how muscles use insulin.[6] It is usually the first-line drug for type 2 diabetes in lipodystrophy, unless kidney or other contraindications are present, and can modestly help with weight and triglycerides.[2][6] Typical side effects are stomach upset, diarrhoea and, rarely, lactic acidosis in high-risk patients, so doses and kidney function must be checked regularly.[6] [6]Insulin glargine (Basaglar, Toujeo, Semglee – long-acting insulin)
Long-acting insulin glargine is injected once daily to provide a steady “background” insulin level that lowers fasting blood sugar when tablets are not enough.[6][21] People with lipodystrophy often need relatively high insulin doses because of strong insulin resistance, but these must be carefully adjusted to avoid low blood sugar.[2][28] Main side effects are hypoglycaemia and weight gain; safe injection technique and regular glucose checking are essential.[21][13][17] [6]Rapid-acting insulin analogues (e.g., insulin lispro, aspart)
Rapid-acting insulin is injected just before meals to control the quick rise in blood sugar after eating.[2][28] In severe insulin resistance, these insulins are combined with basal insulin to mimic natural insulin patterns as closely as possible.[2] Risks include low blood sugar, weight gain and local injection reactions, so dosing must be adjusted to carbohydrate intake and activity with specialist help.[2][21] [2]Empagliflozin (Jardiance – SGLT2 inhibitor)
Empagliflozin is a once-daily tablet that helps the kidneys pass extra glucose into the urine, lowering blood sugar and slightly assisting weight and blood pressure.[6][28] In high-risk patients it also reduces heart failure hospitalisation and cardiovascular death, which is very relevant in lipodystrophy with multiple risk factors.[28] Side effects include genital infections, volume depletion and rare ketoacidosis, so kidney function and symptoms such as nausea or abdominal pain must be monitored.[11][19][15] [6]GLP-1 receptor agonists (liraglutide – Victoza, dulaglutide – Trulicity)
These injectable medicines improve insulin release when glucose is high, slow stomach emptying and reduce appetite, which helps weight and blood sugar.[2][3] They may be especially helpful when there is central obesity with severe insulin resistance, as often seen in partial lipodystrophy.[22] Common side effects are nausea, vomiting and diarrhoea; rare but serious risks include pancreatitis and possible thyroid C-cell tumours, so they are avoided in people with certain thyroid cancers.[3][10][7] [6]Fenofibrate (Tricor, others – fibrate)
Fenofibrate is an oral drug taken once daily that powerfully lowers triglycerides and can raise HDL (“good”) cholesterol.[2][4] It is widely used when triglycerides are very high in lipodystrophy to reduce pancreatitis risk, along with diet changes.[2][26] Side effects can include muscle pain (especially with statins), gallstones and liver enzyme elevation, so liver and kidney tests and any muscle symptoms must be checked frequently.[4][0][4] [6]Atorvastatin (Lipitor – statin)
Atorvastatin lowers LDL (“bad”) cholesterol and, to a lesser degree, triglycerides by blocking cholesterol production in the liver.[2][4] It is used to reduce long-term heart and stroke risk, which is increased in people with long-standing diabetes and dyslipidaemia.[2] Common side effects are muscle aches and mild liver enzyme rise; severe muscle injury is rare but needs urgent review if there is intense muscle pain or dark urine.[4][9][5] [6]Omega-3-acid ethyl esters (e.g., Lovaza, Omacor)
These prescription omega-3 products (usually 4 g per day in divided doses) significantly lower very high triglyceride levels.[2][4] They are often added when fibrates and lifestyle are not enough or are not tolerated, and can help prevent pancreatitis in severe hypertriglyceridaemia.[2][26] Fishy aftertaste and gastrointestinal upset are common; they should be used cautiously in people with fish allergy or bleeding disorders.[4][2][6][18][22] [6]Lisinopril (ACE inhibitor) or similar drugs
ACE inhibitors such as lisinopril help relax blood vessels, lowering blood pressure and protecting the kidneys, especially in diabetes.[2][4] In lipodystrophy they are used when hypertension or early kidney damage is present, as part of standard cardiovascular risk management.[2] Side effects include cough, high potassium and rare angio-oedema; they are not used in pregnancy because of fetal risks.[4][3][7][23] [6]Pioglitazone (thiazolidinedione)
Pioglitazone improves insulin sensitivity by helping fat and muscle cells respond better to insulin, and may reduce liver fat in some people with non-alcoholic fatty liver disease.[2] Its use in lipodystrophy is individualised because it can cause weight gain, fluid retention and worsen heart failure in susceptible patients.[2][20] Any new swelling, breathlessness or bone fractures must be discussed with the care team.[2] [2]Basal-bolus insulin combinations
Some patients need a full regimen combining long-acting insulin for baseline control and rapid-acting insulin with meals.[2][28] This is often necessary when oral diabetes medicines and other injectables do not provide enough control in severe insulin resistance.[2] Risks mainly involve hypoglycaemia and weight gain, so education and frequent glucose monitoring are critical.[2][21] [2]Ezetimibe (cholesterol absorption inhibitor)
Ezetimibe reduces absorption of cholesterol from the intestine and is often added to a statin when LDL remains high.[2][4] It helps further reduce cardiovascular risk without large additional side effects; occasional liver enzyme elevations and muscle symptoms can occur, particularly with statin combinations.[2][4] [2]Antihypertensive combinations (e.g., ACE inhibitor + thiazide diuretic)
Many people with lipodystrophy need more than one blood-pressure drug to reach targets.[2][4] Carefully chosen combinations lower stroke and heart attack risk and protect the kidneys while avoiding excessive drops in blood pressure or electrolyte problems.[2] Side effects depend on the specific medicines (e.g., dizziness, low sodium, gout) and must be monitored.[4][19] [2]Non-insulin diabetes agents (DPP-4 inhibitors, others)
DPP-4 inhibitors such as sitagliptin modestly improve blood sugar without causing much hypoglycaemia or weight gain and may be used when metformin alone is not enough and GLP-1 agonists are not suitable.[2][28] Their effect is less strong than that of GLP-1 agonists or insulin, but they are easy to take and generally well tolerated; rare joint pain or pancreatitis have been reported.[2] [2]Bile-acid sequestrants or other lipid-lowering drugs
In difficult mixed dyslipidaemia, additional agents such as bile-acid sequestrants may be considered.[2][4] These can help further lower LDL cholesterol but often cause bloating or constipation and can interfere with absorption of other medicines, so timing of doses is important.[4] [2]Low-dose aspirin for cardiovascular prevention (selected patients)
In some adults with high cardiovascular risk (e.g., long-standing diabetes, previous heart attack), low-dose aspirin may be recommended following general guidelines.[2][4] This is not specific to CIDEC-related FPLD but can reduce clot-related events in carefully chosen people, balancing benefits against bleeding risk.[2] [2]Vitamin E or other hepatoprotective drugs (selected cases)
For some people with biopsy-proven non-alcoholic steatohepatitis and no major contraindications, vitamin E or other liver-directed drugs may be considered under specialist care.[20] Evidence is mostly from NAFLD populations, not specifically lipodystrophy, so careful individual risk-benefit discussion is needed.[20][5] [3]Contraception adapted to metabolic risk
For women, safe and effective contraception is important because some drugs used in lipodystrophy (e.g., ACE inhibitors, statins) are unsafe in pregnancy.[2] Non-oestrogen or low-risk contraceptive options can be chosen to avoid further worsening of lipids or blood pressure.[2][10] [2]Individualised combinations based on guidelines
In practice, people with CIDEC-related FPLD usually receive combinations of several of the above medicines, tailored to their complications and tolerance.[2][20][28] Treatment plans change over time as the disease evolves, so regular review and shared decision-making are essential.[2] [3]
Dietary Molecular Supplements
Supplements should never replace prescribed medicines or lifestyle changes. Many have only modest or uncertain benefit and must be checked with the treating team to avoid interactions.
Prescription omega-3 fatty acids
Highly purified omega-3 ethyl esters at therapeutic doses lower very high triglycerides and can be considered part of metabolic care, as described above.[4] They reduce liver fat and pancreatitis risk but must be used under supervision, especially if the person is on blood-thinning medicines.[4][6][18][22] [4]Vitamin D
Vitamin D deficiency is common in metabolic diseases and may worsen bone health and immunity.[2] Correcting low vitamin D following local guidelines supports bone strength and overall health, although it is not a specific treatment for lipodystrophy itself.[2] [2]Vitamin E (in selected NAFLD/NASH)
In some adults with non-alcoholic steatohepatitis and no major contraindications, vitamin E has been studied to reduce liver inflammation.[20][5] In lipodystrophy this may be considered only under specialist liver supervision, balancing possible liver benefits against long-term safety questions.[20] [3]Soluble fibre supplements (e.g., psyllium)
Soluble fibre can help lower LDL cholesterol and improve satiety, supporting weight and lipid control when diet alone is not enough.[2][5] Adequate fluid intake is needed to avoid constipation, and doses are increased gradually to reduce gas and bloating.[5] [2]Probiotics (research setting)
Some studies in fatty liver disease have explored probiotics to improve gut bacteria balance and reduce liver inflammation, but evidence is still evolving.[20] In CIDEC-related FPLD, probiotics may be used as part of general gut health if tolerated, but they should not be viewed as a primary treatment.[20] [3]Alpha-lipoic acid (experimental for neuropathy)
Alpha-lipoic acid is an antioxidant studied in diabetic neuropathy and oxidative stress.[2] Any use in lipodystrophy should be within guidelines for diabetic complications and under medical advice, because doses and long-term safety are still being clarified.[2] [2]Coenzyme Q10 (CoQ10)
CoQ10 may be suggested in some patients on statins who develop mild muscle symptoms, though evidence is mixed.[4] It should not be used to continue a statin if serious muscle injury is suspected, and any supplementation should be discussed with the prescriber.[4][9] [4]Magnesium (if deficient)
Low magnesium can worsen insulin resistance and heart rhythm problems.[2] Correcting deficiency with diet or supplements can support metabolic health, but high doses may cause diarrhoea and must be adjusted in kidney disease.[2] [2]Multivitamin/mineral support
A standard multivitamin may be useful if calorie restriction is needed or if diet is limited, to avoid micronutrient deficiencies.[2] It does not treat lipodystrophy directly but supports overall wellbeing and organ function.[2] [2]Any supplement: “check first” rule
Because people with CIDEC-related FPLD often take many prescription drugs, every supplement should be checked with the care team.[2][20] This avoids harmful interactions, liver strain or false expectations about unproven products heavily advertised online.[20][23] [3]
Immunity Booster, Regenerative and Stem Cell–Related Drug Approaches
At present, there are no approved stem cell drugs or “immunity-boosting” medicines specifically for CIDEC-related familial partial lipodystrophy. Research areas include:
Experimental gene or RNA-based therapies that might one day correct CIDEC or other lipodystrophy-related genes in cells.[19]
Studies of leptin replacement (metreleptin) as a way to “restore” a missing hormone signal and improve liver and metabolic health.[4][5][11][31]
Early work on adipose tissue or mesenchymal stem cell approaches to repair fat or liver damage in related conditions, still far from routine clinical use.[5][14][23]
Clinical trials exploring new metabolic drugs that may have regenerative effects on liver, heart or kidneys in high-risk metabolic disease.[20][30][27]
Ongoing long-term safety monitoring of metreleptin and other agents to understand immune effects such as antibody formation.[27]
Supportive “immune-protective” strategies such as vaccines, good nutrition and infection prevention, which remain much more important today than experimental cell therapies.[2][28]
All of these ideas are research topics only and should not be tried outside properly regulated clinical trials. [3]
Surgical Options
Metabolic (bariatric) surgery – e.g., Roux-en-Y gastric bypass
In selected people with familial partial lipodystrophy and severe, difficult-to-control metabolic syndrome, gastric bypass has improved diabetes and lipids in case reports, even when BMI was lower than usual cut-offs.[5][24][32] Surgery changes gut hormones and food absorption, leading to strong metabolic benefits, but also carries risks such as leaks, nutritional deficiencies and surgical complications.[5][0][4]Liposuction of abnormal fat pads
For those with very prominent fat accumulation in specific areas (for example upper back or hips) causing physical or psychological problems, large-volume or targeted liposuction has been used in some lipodystrophy cases.[5][1][13][17] It can improve body shape and sometimes metabolic markers, but it is not a cure, and weight and endocrine follow-up remain essential.[21][17]Reconstructive and cosmetic fat-restoration surgery
Plastic surgeons may use fat grafts, implants or flaps to restore volume in areas with severe fat loss, especially the face, to improve appearance and confidence.[5][9][29][21] These procedures can reduce social stigma and improve mental health, but they do not correct the underlying metabolic disease and need careful planning and expectations.[21]Liver transplantation for end-stage liver disease (very rare)
In very advanced cases of lipodystrophy-related cirrhosis, liver transplantation has been reported, particularly in generalized forms.[5][2][6][30] This is a major operation with lifelong immunosuppression and is considered only when all other treatments have failed and life-threatening liver disease is present.[22]Other supportive surgeries
Standard surgeries for complications (for example coronary artery procedures for heart disease, eye surgery for diabetic retinopathy) may be needed following usual guidelines.[2][29] These are not specific to CIDEC-related FPLD, but good metabolic control before surgery helps reduce risks and support recovery.[2]
Prevention of Complications
Early diagnosis of CIDEC-related FPLD and regular screening for diabetes, lipids, liver, kidney and heart problems.[1][2][28] [2]
Lifelong diet and exercise plan to keep weight stable and protect the liver and heart.[2][5][6] [2]
Strict control of blood sugar using lifestyle plus medicines to avoid long-term nerve, kidney, eye and heart damage.[2][4][28] [2]
Active management of triglycerides and cholesterol to reduce pancreatitis and cardiovascular disease.[2][4][26] [2]
Monitoring and treatment of high blood pressure to protect the heart, brain and kidneys.[2][4] [2]
Avoidance of smoking and heavy alcohol use to prevent extra damage to the liver, blood vessels and heart.[2][29] [2]
Vaccinations and prompt treatment of infections to reduce severe illness in people with complex metabolic disease.[2][28] [2]
Genetic counselling and family testing when appropriate, so relatives can be watched early for metabolic issues.[1][19] [1]
Regular monitoring of mental health and providing psychological support to prevent depression and anxiety.[23][21] [3]
Continuous education and partnership between patient, family and specialist team, so treatment plans are understood and followed.[2][20][28] [3]
When to See Doctors
You should contact a doctor – ideally a specialist familiar with lipodystrophy – as soon as possible if you or a family member:
Have unusual fat distribution (very thin legs/buttocks but more fat in the neck, face, abdomen or armpits), especially with dark skin patches and strong family history.[1][3]
Develop early or difficult-to-control type 2 diabetes, especially at a young age and without usual obesity.[2][22][28]
Have very high triglyceride levels, repeated abdominal pain, nausea or vomiting, which might signal pancreatitis.[2][4][26]
Show signs of liver disease such as persistent fatigue, right-upper-abdominal pain, jaundice, easy bruising or swelling of legs or abdomen.[2][20][30]
Notice chest pain, breathlessness on exertion, palpitations or fainting, which may indicate heart disease.[2]
Experience sudden vision changes, numbness, weakness or speech problems suggesting stroke or severe vascular events.[2]
Feel very low, anxious or struggle with body image because of the disease or its appearance.[21][23]
Routine specialist review at least yearly (often more often) is recommended even if you feel well.[2][3][28]
What to Eat and What to Avoid
Eat: high-fibre vegetables and fruits – non-starchy vegetables, salads, and moderate portions of whole fruits help control blood sugar and improve fullness.[2][5][14]
Eat: whole grains and legumes – brown rice, oats, lentils and beans give slower-releasing carbohydrates and support better insulin sensitivity.[2][5]
Eat: lean protein – fish, poultry without skin, eggs, tofu and pulses help maintain muscle mass and stable blood sugar.[2][5]
Eat: healthy fats in small amounts – nuts, seeds, olive or canola oil provide unsaturated fats that support heart health when used instead of saturated fats.[2][5][14]
Eat: plenty of water – staying hydrated helps kidneys handle extra glucose (if on SGLT2 inhibitors) and supports general health.[6][11]
Avoid: sugary drinks and juices – these cause sharp spikes in blood sugar and triglycerides and should be replaced with water or sugar-free drinks.[2][5]
Avoid: large amounts of saturated and trans fats – fatty red meats, processed meats, fried fast food and commercially baked goods worsen lipids and fatty liver.[2][4][14]
Avoid: heavy alcohol use – alcohol strongly increases triglycerides and liver injury risk, especially when fatty liver is already present.[2][20]
Avoid: highly processed snacks – chips, biscuits and sweets add calories with little nutrition and make weight control harder.[2][14]
Avoid: unregulated “miracle” supplements – many internet products claim to cure fat or sugar problems but may harm the liver or interact with medicines.[20][23]
A dietitian experienced in lipodystrophy or complicated diabetes should tailor this plan to local foods, culture and personal preferences.[2][5][18]
Frequently Asked Questions (FAQs)
Is CIDEC-related familial partial lipodystrophy curable?
No. At present there is no cure that can fully correct the gene problem in CIDEC-related FPLD.[1][19] However, with early diagnosis, careful lifestyle, medicines like metreleptin (in selected cases) and regular monitoring, many complications can be delayed or reduced.[2][4][20]Is this the same as common obesity?
No. CIDEC-related FPLD is a rare genetic disorder where body fat is distributed abnormally, with loss in some areas and gain in others, plus severe insulin resistance.[1][2] People may look only slightly overweight or even slim but still have high diabetes and heart risks.[2][22]Can children be affected?
Yes. Because it is genetic, signs can appear in childhood or adolescence, such as unusual body shape, early insulin resistance or very high triglycerides.[1][3] Early assessment by a specialist and genetic testing of the family are important.[1][19]Why is my diabetes so difficult to control?
In lipodystrophy, insulin resistance is often much stronger than in usual type 2 diabetes.[2][3][28] That means higher medication doses and sometimes combinations (metformin, GLP-1 agonists, SGLT2 inhibitors, insulin, metreleptin) are needed, always under specialist care.[2][4]Will weight loss alone fix my metabolic problems?
Weight management helps, but because the underlying problem is abnormal fat storage, even normal-weight people with CIDEC-related FPLD can have serious metabolic disease.[2][5] Diet and exercise remain essential but usually need to be combined with medicines.[2]Is metreleptin available for everyone with this condition?
Metreleptin is formally approved for generalized lipodystrophy and access for partial forms is limited and often off-label.[4][5][11] Decisions depend on leptin levels, disease severity, local regulations and specialist centre advice.[5][31]Can surgery “fix” my body shape and metabolism?
Metabolic or cosmetic surgeries can improve appearance and sometimes metabolic control, but they do not remove the underlying genetic cause.[5][0][4][21][32] Lifestyle and medical treatment remain essential before and after any operation.[2]Is pregnancy safe with CIDEC-related FPLD?
Many women can have successful pregnancies, but risks of gestational diabetes, pre-eclampsia and other problems may be higher.[2][10] Pre-pregnancy counselling, adjusting medicines (for example stopping statins, ACE inhibitors) and close monitoring in a high-risk obstetric clinic are very important.[2]Can family members be tested?
Yes. Genetic counselling can offer testing for relatives, especially those with similar body shape or early metabolic problems.[1][19] Knowing who carries the mutation allows earlier screening and treatment.[1][3]Will exercise make fat loss in my legs worse?
No. Exercise mainly improves muscle strength, fitness and insulin sensitivity; it does not selectively remove the little remaining subcutaneous fat from the legs.[2][6] It is a central part of treatment and should be encouraged, with supervision if there are heart or joint issues.[2]Do I need a special “lipodystrophy diet” product?
Most people do not need special commercial products, only a carefully planned, high-fibre, low-fat, low-sugar eating pattern using normal foods.[2][5][14] Special medical nutrition is considered only in rare situations and under dietitian supervision.[2]Can I fast for religious or cultural reasons?
Many people can fast safely with careful planning, but those on insulin, SGLT2 inhibitors or other strong diabetes drugs may be at higher risk of low or high blood sugar and dehydration.[2][28] Any fasting plan should be discussed with the specialist beforehand.[2]How often should I have blood tests and scans?
Guidelines suggest at least yearly checks for glucose, HbA1c, lipids, liver and kidney function, and regular imaging (for example liver ultrasound or elastography) based on risk.[2][4][20][28] Many patients will need more frequent tests until things are stable.[2]Can online support groups help?
Yes. Because the condition is very rare, online communities for lipodystrophy can provide emotional support and practical tips.[23] They should not replace professional medical advice, but they can help people feel less alone.[23][21]What is the single most important thing I can do today?
The most powerful step is to link with a specialist centre experienced in lipodystrophy, follow a realistic diet and exercise plan, and keep regular appointments.[2][3][28] Even small, steady improvements in glucose, triglycerides and blood pressure make a big difference over years.[2]
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: January 26, 2025.
