About Familial thrombocytosis

What is Familial thrombocytosis?

Familial thrombocytosis is a rare inherited disorder characterized by an abnormally high number of platelets in the blood. Platelets are small cells in the blood that help to form clots and stop bleeding. People with familial thrombocytosis may have an increased risk of developing blood clots, which can lead to serious health problems such as stroke or heart attack. Treatment typically involves medications to reduce the platelet count and prevent clotting.

What are the symptoms of Familial thrombocytosis?

The most common symptom of familial thrombocytosis is an elevated platelet count. Other symptoms may include:

- Easy bruising

- Excessive bleeding

- Nosebleeds
- Blood in the urine or stool
- Fatigue
- Weakness
- Shortness of breath
- Headaches
- Dizziness
- Abdominal pain
- Joint pain
- Weight loss

What are the causes of Familial thrombocytosis?

The exact cause of familial thrombocytosis is unknown. However, it is believed to be caused by a genetic mutation that affects the production of platelets in the bone marrow. This mutation is thought to be inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for a person to be affected by the condition.

What are the treatments for Familial thrombocytosis?

1. Medication: Medications such as hydroxyurea, anagrelide, and interferon-alpha can be used to reduce platelet counts and reduce the risk of clotting.

2. Surgery: Splenectomy (removal of the spleen) is sometimes recommended to reduce platelet counts.

3. Platelet Transfusions: Platelet transfusions may be used to reduce the risk of clotting in people with severe thrombocytosis.

4. Lifestyle Changes: Making lifestyle changes such as quitting smoking, eating a healthy diet, and exercising regularly can help reduce the risk of clotting.

What are the risk factors for Familial thrombocytosis?

1. Family history of thrombocytosis
2. Inherited genetic mutations
3. Certain medications, such as anabolic steroids
4. Certain chronic illnesses, such as iron deficiency anemia, chronic kidney disease, and inflammatory bowel disease
5. Certain types of cancer, such as leukemia and lymphoma
6. Certain infections, such as HIV/AIDS and hepatitis C
7. Certain autoimmune disorders, such as rheumatoid arthritis and systemic lupus erythematosus (SLE)
8. Pregnancy

Is there a cure/medications for Familial thrombocytosis?

Yes, there are medications available to treat familial thrombocytosis. These medications include hydroxyurea, anagrelide, and interferon-alpha. Additionally, some people may benefit from plateletpheresis, a procedure in which platelets are removed from the blood.