Familial Hibernian Fever

Familial Hibernian fever, also known as Familial Mediterranean fever (FMF), TRAPS (TNF receptor-associated periodic syndrome), is a rare genetic disorder caused by mutations in the TNFRSF1A gene. This gene provides instructions for making a protein called tumor necrosis factor recepto is a rare hereditary autoimmune disease characterized by recurrent episodes of fever, pain and swelling in the abdomen, chest or joints. It is an inherited disorder that is most commonly found in people of Mediterranean, Middle Eastern and Armenian descent. The exact cause of FMF is not known, but it is believed to be related to a genetic mutation in the MEFV gene, which regulates inflammation in the body. The symptoms typically begin in childhood or early adulthood and may worsen over time. Treatment typically involves the use of anti-inflammatory medications, such as colchicine, to reduce the frequency and severity of symptoms.

Causes

The MVK gene provides instructions for making an enzyme called mevalonate kinase, which is involved in the production of cholesterol and other important substances in the body.

When the MVK gene is mutated, it leads to a deficiency of mevalonate kinase and results in increased inflammation and damage to various tissues in the body. This leads to the development of Familial Hibernian fever.

The specific causes of Familial Hibernian fever are still unknown, but it is thought to be related to a combination of genetic and environmental factors. Some common symptoms of the disease include:

Symptoms

Familial Hibernian fever, also known as TRAPS (TNF receptor-associated periodic syndrome), is a rare genetic autoimmune disease that affects multiple systems in the body. The main symptoms of TRAPS are:

1. Fever: Recurrent fevers that can last for several days and can be accompanied by chills, fatigue, and body aches.
2. Inflammation: Inflammation in various parts of the body, including the abdomen, chest, skin, and joints.
3. Abdominal pain: Severe abdominal pain that is usually accompanied by nausea, vomiting, and diarrhea.
4. Joint pain: Pain and stiffness in the joints, which can lead to joint swelling and redness.
5. Rash: A skin rash that is often accompanied by itching and burning.
6. Eye inflammation: Inflammation in the eyes that can cause redness, pain, and blurred vision.
7. Mouth ulcers: Recurrent mouth ulcers that can be painful and cause difficulty eating and speaking.

These symptoms can occur unpredictably and can be severe, leading to hospitalization and disability in some cases. A proper diagnosis is important for effective treatment and management of TRAPS.

Diagnosis

Diagnosis of Familial Hibernian fever typically involves a combination of the following tests:

1. Medical history and physical examination: The doctor will ask about the patient’s symptoms and any family history of similar conditions.
2. Blood tests: Blood tests may be done to check for elevated levels of certain markers, such as C-reactive protein (CRP) or white blood cells (WBCs), that suggest inflammation.
3. Genetic testing: A genetic test can confirm the presence of mutations in the TNFRSF1A gene, which is associated with TRAPS.
4. Imaging studies: Imaging studies, such as X-rays or MRI, may be done to look for signs of joint damage or other abnormalities.
5. Biopsy: In some cases, a biopsy of affected tissue may be done to confirm the diagnosis and help rule out other conditions.

A definitive diagnosis of Familial Hibernian fever requires a combination of clinical, laboratory, and genetic findings.

Treatment

The main treatment for FHf is non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen or naproxen, which can help reduce the symptoms of inflammation and fever.

In severe cases, corticosteroids may be used to reduce inflammation and suppress the immune system. Other medications that may be used include immunosuppressants such as azathioprine or methotrexate, which can help reduce the severity of symptoms and prevent flare-ups.

In some cases, antibiotics may be prescribed to treat any secondary infections that may occur as a result of the weakened immune system.

It is important for individuals with FHf to be closely monitored by a healthcare provider and to receive regular check-ups to monitor the progression of the condition and adjust treatment as needed.

It is also important for individuals with FHf to maintain a healthy diet, exercise regularly, and manage stress levels to help prevent flare-ups and manage symptoms.

References