Anderson disease is another name for chylomicron retention disease (CMRD), a very rare, inherited problem where the small intestine cannot properly release fat particles called chylomicrons into the blood. Because of this, the body cannot absorb fats, cholesterol, and fat-soluble vitamins (A, D, E, K) in a normal way. Children often have chronic diarrhea, greasy stools, poor weight gain, and very low blood cholesterol. Later, they may develop nerve, muscle, eye, bone, and sometimes heart problems due to long-term vitamin and nutrient deficiency. The disease is caused by harmful changes (mutations) in a gene called SAR1B, and it is passed on in an autosomal recessive way (both parents carry the faulty gene).
Anderson disease, also called chylomicron retention disease (CMRD), is a very rare inherited disorder where the small intestine cannot release chylomicrons, which are tiny fat-carrying particles that move fat, cholesterol and fat-soluble vitamins (A, D, E, K) from the gut into the blood. Because these particles are trapped inside the intestinal cells, fat and important vitamins are not absorbed properly, leading to chronic diarrhea, bulky oily stools (steatorrhea), poor weight gain, growth delay, muscle weakness and sometimes nerve and eye problems over time. The disease is usually caused by harmful changes in the SAR1B gene, passed in an autosomal recessive pattern, meaning both parents carry one faulty copy. There is no “cure” yet, but early diagnosis, strict low-fat diet, medium-chain triglyceride (MCT) fats, and high-dose fat-soluble vitamin supplements can greatly improve growth and reduce long-term complications.
Other names of Anderson disease
Doctors and researchers use several different names for Anderson disease. All of the names below point to the same basic condition of chylomicron retention and severe fat malabsorption due to SAR1B mutations:
Chylomicron retention disease (CMRD) – the most widely used medical name, because the main problem is that chylomicrons are “trapped” in the intestinal cells and cannot enter the blood.
Anderson disease – older name, honouring Charlotte Anderson, the first doctor to describe this disorder in 1961.
Anderson syndrome – sometimes used as a synonym in case reports and reviews; it refers to the same lipid malabsorption disorder.
Familial hypobetalipoproteinemia due to chylomicron retention / FHBL-SD3 – newer classification that groups Anderson disease with other inherited conditions causing very low blood levels of apoB-containing lipoproteins.
Hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells – descriptive name that highlights very low circulating apoB and fat-loaded intestinal cells.
Lipid transport defect of intestine – general descriptive name used in some older texts to show that the defect is in intestinal lipid export, not in fat digestion itself.
Types of Anderson disease
There is one genetic disease behind Anderson disease (SAR1B-related chylomicron retention), but patients can look different in daily life. Doctors do not have a strict official “type 1, type 2” classification, but they often describe clinical patterns based on age at onset and main problems.
Classic infantile Anderson disease – in this pattern, symptoms start in the first months of life with chronic diarrhea, greasy stools, poor weight gain, and failure to thrive. Blood tests show very low cholesterol and apoB, and intestinal biopsies show enterocytes full of fat.
Childhood-onset Anderson disease with mainly gut symptoms – here, the child still has chronic diarrhea and growth problems, but nerve and muscle signs appear later or remain mild. With early treatment (low-fat diet and vitamin supplements), long-term outcomes may be better.
Neuromuscular-predominant Anderson disease – in some older children or young adults, the main complaints are muscle weakness, loss of reflexes, balance problems, and sometimes heart issues, on top of a history of childhood diarrhea and low cholesterol. This form is strongly linked to long-standing vitamin E deficiency.
Mild or late-diagnosed Anderson disease – a few patients are diagnosed later in life, when hypocholesterolemia, fatty liver, or subtle neurologic symptoms lead to deeper testing and genetic analysis. These cases may have less severe early diarrhea, but the same SAR1B gene defect.
Causes of Anderson disease
Medically, all patients share one root cause: damaging mutations in the SAR1B gene. Below, each point describes a genetic or mechanistic “cause” or contributor that explains why the disease occurs and why it becomes severe.
Biallelic SAR1B gene mutations – Anderson disease happens when a child inherits two faulty copies of the SAR1B gene, one from each parent. The gene normally helps intestinal cells export chylomicrons, so when both copies are damaged, fat export fails.
Loss of Sar1B GTPase function – SAR1B encodes the Sar1B GTPase, a small “switch” protein that helps coat transport vesicles (COPII) in the endoplasmic reticulum. When the protein is faulty, these vesicles cannot properly carry pre-chylomicrons to the Golgi, so fat particles stay trapped.
Autosomal recessive inheritance pattern – because the disease is recessive, parents are usually healthy carriers, but when both pass a mutated allele to the child, that child receives no working SAR1B gene and develops Anderson disease.
Frameshift and nonsense mutations – some SAR1B variants insert or delete small pieces of DNA, shifting the reading frame or creating a premature stop codon. This leads to a shortened, non-functional Sar1B protein, which cannot support chylomicron export.
Missense mutations affecting critical domains – other patients have missense changes, where one amino acid is swapped for another in a key part of Sar1B, especially in the regions that bind and hydrolyze GTP. Even though the protein is full-length, this small change can severely reduce its activity.
Splice-site mutations in SAR1B – some mutations fall at the junctions where exons are joined in the RNA. These splice-site changes can cause the cell to skip exons or include extra pieces, resulting in an abnormal transcript that cannot make a proper Sar1B protein.
Impaired COPII vesicle formation and trafficking – Sar1B is part of the COPII coat that shapes vesicles budding from the endoplasmic reticulum. When Sar1B is defective, the vesicles that carry pre-chylomicrons cannot fuse with the Golgi, so lipid particles never reach the normal secretory pathway.
Retention of chylomicrons inside enterocytes – defective trafficking means that chylomicrons accumulate in the intestinal lining cells. Microscopy shows enterocytes swollen with fat globules, which is a hallmark of Anderson disease and a direct cause of malabsorption.
Severely reduced secretion of apoB-containing lipoproteins – since chylomicrons (apoB-48-containing particles) cannot leave the intestine, blood levels of apoB lipoproteins, especially triglyceride-rich particles, become extremely low. This hypobetalipoproteinemia is both a sign and a consequence of the basic defect.
Impaired absorption of dietary fats – with chylomicrons trapped, absorbed dietary fats cannot enter the lymph and blood; instead, they remain in the intestinal cells or leave the body in stools. This is the immediate cause of steatorrhea (fatty stools) and chronic diarrhea.
Deficiency of fat-soluble vitamins (A, D, E, K) – these vitamins normally “ride” inside chylomicrons for transport. When chylomicron secretion fails, vitamin levels fall, leading to eye, bone, blood-clotting, and nerve problems; this deficiency is a major cause of long-term complications.
Vitamin E deficiency–related nerve damage – among the fat-soluble vitamins, vitamin E is especially important for nerve protection. Severe, chronic vitamin E deficiency in Anderson disease can cause progressive damage to peripheral nerves and the spinal cord, leading to weakness and loss of balance.
Vitamin A deficiency–related eye changes – low vitamin A levels can disturb normal vision and the health of the retina and cornea. In Anderson disease, this contributes to visual symptoms and abnormal eye test results in older children and adults.
Vitamin D and calcium imbalance in bones – poor vitamin D and calcium absorption in Anderson disease can reduce bone mineral density, causing osteopenia or osteoporosis, and increasing the risk of fractures later in life.
Essential fatty acid deficiency – patients must stay on a low-fat diet to reduce symptoms, but combined with poor absorption, this can lead to a lack of essential fatty acids, which are vital for growth, skin, hair, and cell membranes. This deficiency further contributes to poor growth and skin problems.
Fat accumulation in the liver (hepatic steatosis) – paradoxically, even with low blood lipids, some patients develop fatty liver, probably because of disturbed lipid handling and extra stress on the liver. This liver fat can be a cause of enlarged liver and later liver dysfunction.
Consanguinity and small gene pools – in some families or communities where marriage between relatives is more common, both parents may carry the same SAR1B mutation, making Anderson disease more likely in their children.
Delayed diagnosis and untreated malabsorption – when the disease is not recognised early, ongoing diarrhea and deficiency states cause more severe growth failure and neurological damage. So, late diagnosis is an indirect cause of worse outcomes, even though the genetic defect is present from birth.
Inadequate vitamin and nutrient supplementation – if high-dose fat-soluble vitamins and essential fatty acids are not given correctly, the underlying genetic problem continues to produce irreversible complications, especially in the nervous system.
Lack of awareness due to extreme rarity – Anderson disease is extremely rare (only a few dozen cases reported worldwide), so many clinicians are unfamiliar with it. This low awareness leads to under-diagnosis and mislabeling as simple malnutrition, which indirectly “causes” progression by preventing targeted care.
Symptoms of Anderson disease
Symptoms usually start in infancy or early childhood. Many of them are due to fat and vitamin malabsorption, while others appear later from long-term deficiency.
Chronic diarrhea – babies and children pass frequent loose stools that may last for months or years. The stools are often bulky, pale, and hard to flush, because they contain a lot of unabsorbed fat. This is usually one of the earliest and most obvious symptoms.
Steatorrhea (greasy, foul-smelling stools) – the stools often look shiny or oily and have a very bad smell. This happens because large amounts of fat pass through the intestines unabsorbed, reflecting the failure of chylomicron export.
Failure to thrive / poor weight gain – despite eating, affected babies gain weight slowly or even lose weight. They may fall off the normal growth curve for height and weight, because the body does not receive enough usable calories and essential nutrients.
Abdominal distension and bloating – the belly may look large and swollen. This can be due to gas, unabsorbed food, and sometimes enlarged liver, and parents often notice a “pot-belly” appearance in their child.
Vomiting or feeding intolerance – some infants vomit frequently or seem uncomfortable after feeds. This reflects irritation and overload of the digestive system struggling to handle normal amounts of dietary fat.
Extreme tiredness and lack of energy – low calorie absorption, anemia, and vitamin deficiencies can cause strong fatigue. Children may be less active than their peers and may tire quickly during play or school activities.
Short stature and delayed growth – over time, failure to thrive leads to a shorter height than expected for age and family background. Poor bone mineralisation from vitamin D deficiency may contribute to this delay.
Muscle weakness and wasting (amyotrophy) – muscles can become thin and weak as a result of chronic undernutrition and nerve damage, especially in the legs. This muscle wasting is a key feature reported in many older children and adults with Anderson disease.
Loss or reduction of tendon reflexes (areflexia / hyporeflexia) – when the doctor taps the knee or ankle, the normal reflex may be greatly reduced or absent. This sign reflects damage to the peripheral nerves from long-standing vitamin E deficiency.
Unsteady walking and balance problems (ataxia) – some patients develop difficulty walking in a straight line or standing with feet together. This can be due to nerve and spinal cord involvement, and it may resemble hereditary ataxia syndromes if the underlying gut disease is not recognised.
Reduced vibration and position sense – affected individuals may not feel a tuning fork vibration on their ankles or may have trouble knowing the position of their toes with eyes closed. This sensory loss is typical of large-fiber neuropathy from vitamin E deficiency.
Visual problems – vitamin A and E deficiencies can lead to night blindness, visual field defects, or abnormal findings on eye tests (fundus exam and electroretinography). Patients may complain of blurred vision or difficulty seeing in the dark.
Enlarged liver (hepatomegaly) – some children develop a liver that feels enlarged on physical exam or looks big on ultrasound, often due to fatty change (steatosis). This can later cause mild liver test abnormalities.
Very low blood cholesterol (hypocholesterolemia) – blood tests show significantly reduced total and LDL cholesterol, and low apoB, even though the child is undernourished rather than “healthy low cholesterol.” This biochemical pattern is a key clue to Anderson disease.
Rare heart involvement (cardiomyopathy) – a few reports describe patients with Anderson disease developing heart muscle problems, probably related to long-term vitamin E deficiency and metabolic stress. This is not present in every case but is an important possible complication.
Diagnostic tests for Anderson disease
Diagnosing Anderson disease needs a mix of clinical exam, lab tests, imaging, and genetic analysis. Below are 20 key tests, grouped into physical exam, manual tests, lab/pathology, electrodiagnostic studies, and imaging.
Physical exam–based tests
Growth and nutrition assessment – the doctor measures weight, height, head size, and body mass index, then plots them on growth charts. In Anderson disease, the child often falls below expected curves, showing chronic malnutrition. Careful growth tracking is a simple but powerful diagnostic clue.
Abdominal examination – the clinician gently feels the abdomen to check for bloating, tenderness, or an enlarged liver. A protuberant belly and hepatomegaly in a child with chronic diarrhea suggest a malabsorption disorder like Anderson disease.
General neurologic examination – muscle tone, strength, reflexes, and coordination are tested at the bedside. Reduced knee and ankle reflexes, distal weakness, and gait problems raise suspicion of vitamin E–related neuropathy in the context of chronic fat malabsorption.
Basic ophthalmologic bedside exam – simple tests of visual acuity and fundus inspection (with an ophthalmoscope) can show early retinal changes or optic nerve abnormalities, prompting more detailed eye testing and supporting the suspicion of long-standing vitamin deficiency.
Manual (bedside functional) tests
Muscle strength testing – using manual resistance (Medical Research Council scale), the doctor grades strength in arms and legs. Symmetrical, distal weakness, especially in the legs, suggests neuropathy or myopathy linked to the metabolic disturbance in Anderson disease.
Vibration sense testing with tuning fork – a vibrating tuning fork is placed on ankles or toes to check if the patient can feel the vibration. Reduced or absent perception supports large-fiber peripheral nerve damage from vitamin E deficiency.
Gait and coordination tests (including Romberg test) – the patient is asked to walk heel-to-toe, stand with feet together, and sometimes close their eyes. Swaying, imbalance, or wide-based gait point toward ataxia, a functional sign that fits with neuropathy in Anderson disease.
Lab and pathological tests
Fasting lipid profile – after an overnight fast, blood is checked for total cholesterol, LDL, HDL, and triglycerides. In Anderson disease, cholesterol and apoB-containing lipoproteins are markedly low, while triglycerides may be in the low-normal range, giving a characteristic pattern.
Apolipoprotein B measurement (especially apoB-48) – specific tests can measure apoB levels, and sometimes separate apoB-48 from apoB-100. In Anderson disease, apoB-containing chylomicrons are absent from post-meal blood, confirming a defect in intestinal secretion.
Fat-soluble vitamin levels (A, D, E, K) – blood tests often show low vitamin E and sometimes low A, D, and K. These results help explain neurologic, eye, bone, and bleeding problems and support the diagnosis of a chronic fat malabsorption syndrome such as Anderson disease.
Liver function tests – enzymes such as AST, ALT, GGT, alkaline phosphatase, and bilirubin are measured. Mild to moderate abnormalities can indicate fatty liver or other hepatic stress related to abnormal lipid handling in Anderson disease.
Creatine kinase (CK) level – CK is a muscle enzyme that may be elevated when muscle fibers are damaged. Some patients with Anderson disease show raised CK, reflecting associated myopathy from chronic deficiency states.
Quantitative stool fat test (72-hour fecal fat) – stool is collected over three days while the patient eats a defined fat intake. Very high stool fat output confirms severe fat malabsorption and helps distinguish Anderson disease from other causes of diarrhea.
Intestinal biopsy with histology (pathology) – small bowel biopsy obtained during endoscopy is examined under the microscope. In Anderson disease, enterocytes in the upper small intestine show heavy fat accumulation, with normal villous shape but “stuffed” cells, a key pathological sign.
Molecular genetic testing of SAR1B – sequencing the SAR1B gene can identify the exact pathogenic variants. Finding two disease-causing mutations in SAR1B in a patient with typical symptoms confirms the diagnosis and allows family studies and genetic counselling.
Electrodiagnostic tests
Nerve conduction studies (NCS) – this test measures the speed and strength of electrical signals along peripheral nerves. In Anderson disease, NCS often show reduced amplitudes or slowed conduction in sensory and sometimes motor nerves, consistent with axonal neuropathy.
Electromyography (EMG) – tiny needles placed in muscles record their electrical activity. EMG can show whether weakness is mainly due to nerve damage, muscle involvement, or both, and helps physicians understand the neuromuscular complications of Anderson disease.
Electroretinography (ERG) – this test measures the electrical response of the retina to light flashes. Abnormal ERG findings in a patient with Anderson disease suggest retinal involvement from chronic vitamin A and E deficiency, supporting the systemic nature of the disorder.
Imaging and related tests
Abdominal ultrasound (especially liver) – ultrasound imaging can show liver size and texture. In Anderson disease, it may reveal fatty liver (steatosis) or hepatomegaly, which fits with the biochemical and clinical picture of a lipid transport defect.
Bone densitometry (DEXA scan) – dual-energy X-ray absorptiometry measures bone mineral density. In patients with long-standing vitamin D and calcium deficiency due to Anderson disease, DEXA can detect osteopenia or osteoporosis, guiding preventive and therapeutic strategies.
Non-pharmacological treatments
Individualized low-fat diet plan
A strict low-fat diet is the main non-drug treatment for Anderson disease. A dietitian helps limit long-chain fats (the usual fats in regular food) while still giving enough calories and protein for growth. Lowering long-chain fat reduces steatorrhea, tummy pain and malabsorption, and protects the intestine from constant fat overload.Medium-chain triglyceride (MCT)–enriched formula or oil
MCT fats are special fats that can go directly into the blood from the gut without needing chylomicrons, so they are much easier to absorb in this disease. Doctors often use MCT-enriched infant formulas or add MCT oil to food to improve calorie intake, weight gain and energy without making diarrhea worse.Careful essential fatty acid balancing
Even though total fat is restricted, the body still needs small amounts of essential fatty acids (like omega-3 and omega-6) for brain, eye and skin health. Dietitians fine-tune the diet so there is enough linoleic acid and alpha-linolenic acid from safe fat sources, preventing deficiency while keeping stools manageable.High-energy feeding schedule
Because many calories are lost in the stool, children often need more frequent, energy-dense meals and snacks. Spreading intake across the day, including night feeds in infants, helps maintain stable energy, supports normal growth curves and reduces fatigue and irritability linked to under-nutrition.Nutritionist-led growth monitoring
Regular follow-up with a pediatric nutrition team allows close tracking of weight, height and head circumference. If growth slows, the team adjusts calorie density, fat restriction, and vitamin supplementation early. This proactive monitoring limits long-term stunting and delays in puberty or development.Management of diarrhea and stool consistency by diet
Non-drug measures like adjusting fiber, fluid intake and timing of meals can help make stools less frequent and less greasy. Families learn how to link particular high-fat foods with flare-ups and how to avoid them, so daily life, school attendance and sleep patterns are less disturbed.Physical therapy for muscle weakness
Long-term vitamin E and general nutrient lack can cause muscle weakness and coordination problems. Physical therapists design gentle strength, balance and stretching exercises, which help children build muscle mass, improve posture and reduce falls, especially if neurological complications appear.Occupational therapy for fine motor and daily skills
If there are difficulties with hand skills, dressing, or school activities due to weakness or neuropathy, occupational therapists teach practical strategies, special grips, and environmental adaptations. This support helps children remain independent and confident in daily life despite chronic disease.Vision screening and low-vision support
Vitamin A and E deficiencies can harm the retina and nerves to the eye. Regular eye exams detect early changes such as night blindness or visual field loss. If needed, low-vision aids, proper lighting and school accommodations are recommended to protect learning and quality of life.Bone health support and safe weight-bearing exercise
Vitamin D and calcium problems can lead to weak bones and fractures. Weight-bearing exercises like standing, walking and age-appropriate play, along with safe sun exposure, help keep bones stronger. Doctors monitor bone density and adjust diet and supplements if signs of osteopenia appear.Education and counseling for parents and caregivers
Because Anderson disease is rare and chronic, families benefit from clear teaching about diet rules, vitamin schedules and danger signs. Counseling sessions reduce anxiety, correct myths, and empower parents to make daily decisions confidently for feeding, illness management and school issues.Genetic counseling for the family
A genetic counselor explains the autosomal recessive pattern, carrier risks and options for future pregnancies. This helps parents understand why the disease occurred, the chance of another affected child, and whether other relatives might benefit from carrier testing, especially in small or closely related families.Regular neurologic follow-up
Even with good treatment, some patients can develop nerve or coordination problems later in life. Scheduled reviews with a neurologist allow early detection of subtle balance, reflex or sensation changes. Early recognition means vitamins, diet and rehabilitation can be intensified before permanent damage occurs.Vaccination according to national schedules
Children with chronic malabsorption may be more vulnerable to infections. Keeping all routine vaccines up to date, including influenza and other recommended shots, lowers the risk of severe illness, hospital stays and further nutritional decline after infections.Psychological support and peer support groups
Living with a rare disorder can feel lonely for both child and parents. Access to a psychologist or social worker, and online or local rare-disease groups, provides emotional support, coping strategies and practical tips from other families living with similar dietary and medical routines.School and learning accommodations
Frequent stools, clinic visits and fatigue can affect school performance. Working with teachers to allow bathroom breaks, flexible deadlines, extra time in exams, and safe food options at school helps the child stay engaged and reduces stress and bullying related to special diets.Careful transition planning to adult care
As children become teenagers, their care needs to move from pediatric to adult specialists. A structured transition plan, including education about self-management, prescription renewal and diet planning, reduces gaps in care and keeps vitamin and diet therapy continuous.Hospital nutritional support during acute illness
During severe infections or surgeries, oral intake may fall sharply. Short-term enteral (tube) feeding or parenteral nutrition can prevent dangerous weight loss and vitamin depletion, while the medical team continues low-fat principles and adjusts supplements to the acute situation.Routine laboratory and vitamin monitoring
Regular blood tests for vitamin A, D, E, K, lipids, liver function and muscle enzymes help check if treatment is working. Abnormal results prompt early changes in doses or diet, preventing silent complications like neuropathy, liver fat build-up or bone loss.Written emergency action plan
Families can carry a simple letter explaining the condition, diet needs and the importance of vitamin therapy. In emergency rooms or new hospitals, this helps doctors avoid giving high-fat feeds or stopping key vitamins by mistake, reducing complications during urgent care.
Drug treatments
Important: There is no single “curative” drug approved specifically for Anderson disease. Medicines are used to replace missing vitamins, support nutrition and treat complications. Doses below are example ranges from case series; actual dosing must always be decided by a specialist physician.
Vitamin E (α-tocopherol / tocofersolan)
Vitamin E is critical because its lack can cause serious nerve and eye damage. High-dose oral vitamin E (often 20–100 IU/kg/day, commonly around 50 IU/kg/day in children) is used long term; sometimes water-soluble forms like tocofersolan are chosen to improve absorption in fat malabsorption. Side effects can include stomach upset or, rarely, bleeding risk at very high doses.Vitamin A (retinyl palmitate or similar)
Vitamin A supports vision, immunity and epithelial health. Oral vitamin A, for example around 15,000 IU/day in some reports, is given with careful blood level monitoring to avoid toxicity. Signs of overdose can include headache, irritability and liver problems, so doctors balance deficiency risks with safety.Vitamin D (cholecalciferol / ergocalciferol / calcitriol)
Vitamin D is essential for bone mineralization and calcium balance. Supplementation (for example 800–1,200 IU/kg/day in infants in some case reports, or standard age-based doses) is tailored to vitamin D level and bone health. Too much vitamin D can cause high blood calcium, kidney issues and nausea, so regular labs are needed.Vitamin K (phytonadione)
Vitamin K is important for normal blood clotting. Oral or injectable vitamin K, sometimes 15 mg/week in reports, is used when levels are low or if clotting tests are abnormal. Excessive doses can rarely cause hemolysis in certain newborns or skin reactions; dosing follows clotting tests and specialist advice.Multivitamin preparations (parenteral or oral)
Some patients need combined multivitamin solutions, especially during hospital stays or when oral absorption is very poor. Intravenous multivitamin injections provide a balanced mix of water- and fat-soluble vitamins. Side effects may include infusion-site irritation, allergy or imbalances if doses are not carefully adjusted.Calcium supplements
Calcium is often given with vitamin D to support bones. Doses depend on dietary intake and blood tests. Too much calcium can cause constipation, kidney stones and high blood calcium, so doctors aim for age-appropriate total intake while watching for symptoms and lab changes.Phosphate supplements
In some children, low phosphate levels may contribute to bone weakness. Oral phosphate solutions are used under specialist supervision, with frequent blood checks to avoid problems like diarrhea, stomach upset or imbalances in calcium and phosphate ratio that may affect kidneys.Omega-3 fatty acids (e.g., omega-3-acid ethyl esters)
Purified omega-3 preparations, similar to those used for severe high triglycerides, can provide essential fatty acids in a more controlled way. A typical adult dose for other conditions is 4 g/day, but in Anderson disease dosing is individualized. Possible side effects are fishy after-taste, stomach upset and, rarely, increased bleeding tendency.Parenteral lipid emulsions (e.g., soybean or mixed-oil emulsions)
When oral intake is not enough, intravenous lipid emulsions provide essential fatty acids and calories directly into the blood. Doses are based on weight and liver function, typically given via central venous lines. Risks include infection, liver fat build-up and infusion reactions, so careful monitoring is required.Proton pump inhibitors (PPIs, e.g., omeprazole)
Some patients experience reflux or esophagitis from chronic vomiting and high-volume feeds. PPIs reduce stomach acid and protect the esophagus. Side effects can include headache, diarrhea and, with long-term use, possible nutrient malabsorption or infection risk, so doctors aim for the lowest effective dose and duration.H2-receptor blockers (e.g., ranitidine-class alternatives)
In some cases, milder acid-reducing medicines are used instead of PPIs. They decrease stomach acid and can ease heartburn and discomfort around feeding. Side effects are usually mild, such as headache or constipation, but dosing and choice depend on age, kidney function and local guidelines.Antiemetics (e.g., ondansetron)
Vomiting can worsen dehydration and weight loss. Short-term use of anti-nausea medicines in hospital can help keep feeds down. Side effects can include constipation, headache or, rarely, heart rhythm changes, so they are used carefully and not as a substitute for proper dietary management.Oral rehydration solutions
Special oral rehydration salts replace water and electrolytes lost in chronic diarrhea. They are balanced with glucose and salts to improve absorption in the intestine, prevent dehydration and reduce hospital admissions. Overuse without medical review can sometimes mask more serious dehydration needing IV fluids.Loperamide (with caution and specialist oversight)
In selected older children or adults, low-dose loperamide may be used to slow stool frequency. It must be used cautiously because of risks like constipation, abdominal pain or, at high doses, serious heart rhythm issues. It is usually avoided in very young children and never used without medical supervision.Pancreatic enzyme preparations (in selected mixed malabsorption)
If there is co-existing pancreatic dysfunction, enzymes may be added to help digestion. In pure Anderson disease they are not routinely needed, but in complex cases they may improve stool quality. Side effects can include mouth irritation or, at very high doses, bowel narrowing in children with cystic fibrosis.Bile acid binders or bile acid–modifying drugs (rare situations)
If chronic diarrhea includes bile acid malabsorption features, bile acid binders may be tried. They attach bile acids in the gut, reducing irritation. They can cause bloating and interfere with absorption of fat-soluble vitamins, so careful vitamin monitoring is essential.Ursodeoxycholic acid (in selected liver involvement)
Some patients develop fatty liver or mild cholestasis. Ursodeoxycholic acid may improve bile flow and liver tests in specific cases. Side effects are usually mild (diarrhea, nausea), but its use in Anderson disease is based on general liver disease experience rather than strong disease-specific trials.Muscle relaxants / neuropathic pain medicines (for complications)
If neuropathy or muscle cramps appear despite good vitamin therapy, medicines like gabapentin may be considered for pain and discomfort. They do not treat the root cause but can improve quality of life. Side effects include drowsiness and dizziness, so dosing is increased slowly.Topical vitamin preparations for skin / eye surface
Vitamin-enriched eye drops or skin creams may be used to relieve dryness due to vitamin A or E deficiency. They improve comfort and barrier function but are supportive only and must be combined with systemic vitamin therapy. Local irritation or allergy can occur rarely.Probiotics (experimental and individualized)
Probiotics are sometimes tried to support gut microbiome health in chronic diarrhea, though evidence in Anderson disease is limited. They may help stool consistency and reduce infections in some settings. Side effects are usually mild gas or bloating, but immunocompromised patients need careful selection of products.
Dietary molecular supplements
Hydrosoluble vitamin E (tocofersolan) – better absorbed in fat-malabsorption states than oil-based forms and helps protect nerves and retina from oxidative damage.
Concentrated vitamin A drops – small-volume concentrated drops make it easier for infants and small children to receive needed vitamin A with less fat volume.
High-strength vitamin D3 (cholecalciferol) – supports bone health; dosing is guided by blood levels and age, often given daily or weekly.
Vitamin K1 oral or injectable solutions (phytonadione) – corrects low vitamin K and helps normalize clotting tests, reducing bruising and bleeding risk.
Balanced multivitamin syrups – provide water-soluble vitamins (B-group, C) that are also important for energy release and immune support, especially in children with low overall intake.
Omega-3-rich oils or capsules – supply EPA and DHA for brain and retina development, using carefully measured doses to avoid adding excessive long-chain fat to the diet.
Calcium plus vitamin D combined products – simplify the regimen and support bone mineral density, especially in patients with documented osteopenia on scans.
Zinc supplements – zinc supports growth, taste, appetite and immune function; deficiency is common in chronic diarrhea, so supplements are used when blood levels are low.
Iron supplements (if anemia) – iron deficiency may occur due to poor intake or chronic illness; oral iron can correct anemia but may temporarily worsen stool color and sometimes cause constipation.
Magnesium and trace element mixes – in long-term parenteral or enteral nutrition, balanced trace element solutions ensure enough magnesium, copper, selenium and others for enzyme systems and antioxidant defense.
Immunity-boosting and regenerative / stem-cell related drugs
Very important: At present, there are no specific stem cell drugs approved for Anderson disease. The options below are supportive therapies that help the body grow and repair; any true stem-cell therapy would still be experimental in research settings only.
Aggressive correction of fat-soluble vitamin deficiency (A, D, E, K) – restoring normal vitamin levels supports immune cells, bone marrow, skin and mucosal barriers, indirectly improving resistance to infection and tissue repair.
Complete multivitamin and mineral support (oral or IV) – providing all essential micronutrients helps DNA repair, enzyme activity and antioxidant systems which are needed for normal cell renewal in gut, bone and nerve tissue.
Adequate protein intake / amino-acid-rich feeds – protein is the basic building block for new cells, enzymes and immune factors. Ensuring enough high-quality protein in a low-fat diet supports growth, muscle rebuilding and organ repair.
Parenteral nutrition during severe malnutrition – in rare, extreme cases, temporary intravenous nutrition provides complete calories, amino acids, vitamins and lipids, allowing the intestine and other organs time to recover while maintaining growth and immune function.
Management of associated endocrine or metabolic issues – carefully treating any co-existing thyroid, adrenal or other metabolic problems supports overall cell metabolism, which indirectly aids tissue regeneration and resilience against stress.
Participation in clinical trials (if available) – in the future, gene- or cell-based therapies may be studied for disorders like Anderson disease. Enrollment in ethically approved clinical trials may give access to new regenerative approaches under strict safety monitoring.
Surgeries and procedures
Surgery does not cure Anderson disease. Procedures are used only for complications or to support feeding and diagnosis.
Endoscopic intestinal biopsy
Upper endoscopy with small-bowel biopsy is often used to confirm the diagnosis by showing fat-laden enterocytes. It helps rule out other causes of malabsorption. The procedure is done under anesthesia; main risks are bleeding or perforation, which are rare in experienced hands.Gastrostomy tube placement
If oral intake is not enough to maintain growth, a feeding tube can be placed directly into the stomach. This allows precise delivery of low-fat, MCT-rich formulas and vitamins. Risks include infection, leakage and skin irritation, but it can significantly improve calorie intake and reduce mealtime stress.Central venous catheter insertion
For patients who need long-term parenteral nutrition or IV vitamin therapy, a central venous line may be placed surgically. It provides reliable access for high-osmolar solutions but carries risks of infection, clotting and line blockage, so strict care protocols are essential.Orthopedic surgery for severe bone deformities
If long-standing vitamin D deficiency and bone weakness lead to severe deformities or fractures that do not respond to medical therapy, orthopedic operations may be needed. These procedures correct deformities, stabilize bones and reduce pain, but they are considered only after nutritional status is optimized.Ophthalmologic surgery for advanced eye complications
In very advanced cases with severe retinal damage or cataract formation, eye surgery might be discussed to preserve or restore vision. However, the main goal remains prevention through early and continuous vitamin A and E therapy.
Preventions
Early diagnosis in infants with chronic diarrhea and poor growth – prompt testing prevents years of unmanaged malabsorption.
Family screening where a child is affected – early lipid and genetic testing in siblings allows pre-symptomatic treatment.
Lifelong adherence to low-fat, MCT-adapted diet – consistent diet reduces steatorrhea and long-term damage.
Strict vitamin A, D, E, K supplementation with regular checks – prevents neurologic, eye and bone complications.
Scheduled growth and development monitoring – early detection of growth slowdown or school difficulties triggers rapid intervention.
Routine eye and bone health assessments – regular ophthalmology and bone density checks catch silent damage early.
Prompt treatment of infections and dehydration – reduces nutritional setbacks and hospitalization.
Avoidance of unnecessarily high-fat feeds or formulas – especially in hospitals where staff may not know the diagnosis.
Genetic counseling before future pregnancies – informs parents about recurrence risk and options.
Educating schools and caregivers about the condition – prevents accidental diet breaks and supports a safe, inclusive environment.
When to see doctors (or seek urgent care)
Families should maintain regular follow-up with a pediatric gastroenterologist, nutritionist and, when needed, neurologist and ophthalmologist. You should seek urgent medical attention if there is severe or sudden worsening of diarrhea, vomiting, poor feeding, signs of dehydration (very little urine, dry mouth, sunken eyes), high fever, unexplained bruising or bleeding, severe bone pain or fracture after minor trauma, or sudden change in vision, balance or muscle strength. Any interruption in access to prescribed vitamins or MCT feeds, or planning for surgery or anesthesia, should also prompt early contact with the specialist team so treatment can be safely adjusted.
What to eat and what to avoid
Eat: low-fat, high-calorie foods such as lean protein (skinless chicken, fish if tolerated, pulses), along with carbohydrates like rice, bread, potatoes and pasta to provide energy without high fat load.
Eat: foods enriched with MCT oil as advised (for example, adding measured MCT oil to purees or formula) to increase calories safely.
Eat: fruits and vegetables for fiber, vitamins and antioxidants, choosing cooking methods like boiling and steaming without added fat.
Eat: fortified low-fat dairy or suitable alternatives to provide protein and calcium, while keeping total fat within the plan.
Avoid: deep-fried foods, fast food, crisps, chips and other obviously greasy snacks that are rich in long-chain fats and quickly worsen steatorrhea.
Avoid: cream, butter, full-fat cheese and high-fat desserts unless specifically adapted with MCT and approved by the dietitian.
Avoid: unplanned use of high-fat nutritional supplements or shakes not approved by the specialist team.
Avoid: skipping prescribed vitamin doses, even when the child seems well, because complications can build silently over years.
Be cautious with: herbal or over-the-counter supplements that may contain hidden fats, vitamin megadoses or interactions; always check with the medical team first.
Be consistent with: plenty of fluids, especially during hot weather or illness, using oral rehydration solutions when diarrhea increases to prevent dehydration.
Frequently asked questions
Is Anderson disease the same as chylomicron retention disease?
Yes. “Anderson disease” is another name for chylomicron retention disease, describing the same inherited problem with releasing chylomicrons from intestinal cells.Can Anderson disease be cured?
There is no cure yet that fixes the genetic cause. However, strict diet plus vitamin therapy can control symptoms, allow near-normal growth and greatly reduce long-term complications for many patients.Will my child need treatment for life?
Yes. Because the underlying gene change does not go away, low-fat diet and vitamin supplementation are usually lifelong, although exact doses and diet details may change with age and lab results.Can children with Anderson disease live a normal life?
Many children, when diagnosed early and treated well, can attend school, play, and grow into adulthood, though they need ongoing medical and dietary follow-up and may face challenges if treatment is interrupted or delayed.Is it my fault as a parent?
No. Anderson disease is a genetic, autosomal recessive condition. Parents typically carry one silent gene change each and are healthy themselves; they did nothing to cause it. Genetic counseling can explain this in detail.Can diet alone treat the disease without vitamins?
Diet alone is not enough. Because chylomicron problems block absorption of fat-soluble vitamins, long-term high-dose supplements of vitamins A, D, E and K are essential to protect eyes, nerves and bones.Are there side effects from taking high-dose vitamins?
Yes, very high doses can cause problems such as liver issues (vitamin A), high calcium (vitamin D) or bleeding/clotting changes (vitamins E and K). This is why doses and blood levels must be managed by experienced doctors.Can my other children also have Anderson disease?
If both parents are carriers, each pregnancy has a 25% chance of an affected child, 50% chance of a healthy carrier, and 25% chance of a child without the gene change. Testing siblings can help identify who needs monitoring.Will my child always be small?
Some children show catch-up growth once proper diet and vitamins start, especially if treatment begins early. Others may remain slightly smaller than peers but can still be healthy and active.Can pregnancy be safe for women with Anderson disease?
There is limited information because the disease is rare, but with careful specialist care, adjusted diet and vitamins, pregnancy may be possible. Close monitoring of weight, vitamins and the baby’s growth is essential.Does Anderson disease affect the brain?
It can affect nerves and coordination, especially if vitamin E deficiency is long-standing. Good vitamin control from early life reduces the risk of severe neurologic problems.Is Anderson disease contagious?
No. It is not an infection. It is a genetic disorder and cannot spread from one person to another through contact, food or air.Can traditional or herbal medicines replace medical treatment?
No. Herbal products cannot correct the genetic problem or reliably replace missing vitamins. Some may even contain hidden fats or harmful doses of vitamins, so they should only be used after discussion with the specialist team.What happens if we stop the vitamins for a while?
Stopping vitamins and diet suddenly may not cause symptoms immediately, but over months or years can lead to irreversible nerve damage, severe visual loss, bone deformities and growth failure. Consistency is critical.Where can we find reliable information and support?
Reliable sources include rare disease databases, medical genetics sites and peer-reviewed articles. Rare-disease support groups and national metabolic centers may also offer educational materials and connect families. Always check that websites are medical or academic, not commercial advertising.
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.
