Autosomal dominant macrothrombocytopenia is a rare inherited disorder characterized by abnormally large platelets in the blood. It is caused by a mutation in the MYH9 gene, which is responsible for the production of a protein involved in the formation of platelets. Symptoms of this disorder include easy bruising, nosebleeds, and bleeding gums. Treatment typically involves medications to reduce the risk of bleeding.

The symptoms of Autosomal dominant macrothrombocytopenia include:

-Easy bruising
-Frequent nosebleeds
-Excessive bleeding from cuts
-Heavy menstrual bleeding
-Blood in the urine or stool
-Fatigue
-Pale skin
-Joint pain
-Headaches
-Abdominal pain
-Nausea
-Vomiting
-Fever
-Rash

The exact cause of autosomal dominant macrothrombocytopenia is unknown. However, it is believed to be caused by a mutation in the MYH9 gene, which is responsible for the production of a protein called non-muscle myosin heavy chain IIA. This protein is involved in the formation of platelets, which are essential for normal blood clotting. Mutations in this gene can lead to a decrease in the production of platelets, resulting in macrothrombocytopenia.

1. Platelet transfusions: Platelet transfusions can be used to temporarily increase the number of platelets in the blood.

2. Splenectomy: Splenectomy is a surgical procedure to remove the spleen, which can help reduce the destruction of platelets.

3. Medications: Certain medications, such as corticosteroids, can help reduce the destruction of platelets.

4. Bone marrow transplant: A bone marrow transplant can be used to replace the bone marrow with healthy cells that can produce platelets.

5. Gene therapy: Gene therapy is a new and experimental treatment that involves introducing a healthy gene into the body to replace the mutated gene that is causing the disorder.

1. Family history of autosomal dominant macrothrombocytopenia
2. Genetic mutation in the MYH9 gene
3. Exposure to certain medications or toxins
4. Certain infections
5. Advanced age
6. Alcohol consumption
7. Smoking

At this time, there is no cure for autosomal dominant macrothrombocytopenia. However, medications such as corticosteroids, immunosuppressants, and anticoagulants may be used to help manage the symptoms. Additionally, platelet transfusions may be used to help increase platelet counts.