Hereditary thrombocytopenia, also called inherited thrombocytopenia, is a low platelet count caused by genetic factors, meaning parents carried genes that predisposed a child to the condition. It can range from mild to severe.
Thrombocytopenia is when your platelet count is lower than normal. Platelets are blood cells that help your blood clot together.
A normal platelet count is considered between
Researchers discovered a type of inherited thrombocytopenia called Bernard-Soulier syndrome in 1948. Since then, many different types of hereditary thrombocytopenia have been discovered.
It’s estimated that hereditary thrombocytopenia disorders affect about
Read on to learn more about hereditary thrombocytopenia, including symptoms, types, and treatment options.
Hereditary thrombocytopenia causes problems with blood clotting. The degree of symptoms can vary from mild to severe.
Severe thrombocytopenia may be recognized within a
Symptoms can include:
- frequent nosebleeds
- easy bruising
- small round spots that occur on the skin due to bleeding called petechiae (more common on the legs)
- prolonged bleeding
- excessive bleeding after cuts or surgery
- blood in urine
- menstrual bleeding that lasts more than 1 week (menorrhagia)
Hereditary thrombocytopenia is caused by gene mutations inherited from birth. At least
| Gene | Syndrome | Other associated conditions |
|---|---|---|
| ANKRD26 | ANKRD26-related thrombocytopenia | • leukemia |
| GP1BA, GP1BB, GP9 | Bernard-Soulier syndrome | |
| ETV6 | ETV6-related thrombocytopenia | • leukemia |
| FL11 | Jacobsen syndrome | • abnormal heart and facial development • intellectual disability |
| WAS | Wiskott-Aldrich syndrome | • severe immunodeficiency • eczema • cancer • autoimmune disease |
| MYH9 | MYH9-related disease | • kidney dysfunction • deafness • cataracts |
Thrombocytopenia can cause severe bleeding even from small injuries. It can cause bleeding in your brain or internal organs that can be life threatening.
People with severely low platelet counts are most likely to develop life threatening bleeding.
Some inherited disorders are linked to specific complications. For example,
- sensorineural hearing loss ranging from mild to severe
- kidney disease
- cataracts
- eczema
- recurrent infections
- autoimmune disease like hemolytic anemia
- lymphoma and leukemia
It’s a good idea to contact a doctor if you think you might have thrombocytopenia or if you’ve previously been diagnosed and you notice a change in your symptoms.
If you have not been diagnosed
It’s important to visit a doctor any time you notice potential symptoms of thrombocytopenia like excessive bleeding or easy bruising.
Thrombocytopenia can indicate a serious health condition like leukemia or hepatitis C. A doctor can help you find the underlying cause.
If you have been diagnosed with hereditary thrombocytopenia
Regular follow-ups are important if you’re receiving treatment to see how the treatment is working. It’s also important to visit your doctor if you notice a change in your symptoms.
Doctors start the diagnostic process by reviewing your medical and family medical history. They’ll also ask you about your symptoms and perform a physical exam.
The primary diagnostic tests are blood tests. Your doctor may order the following tests:
- complete blood count to see your number of platelets
- blood smear to see if your platelets look healthy under a microscope
- genetic tests to look for genes associated with thrombocytopenia
Your doctor may also order bone marrow tests to see if the cells that create blood cells are healthy.
Mild thrombocytopenia may not need treatment, but you may have to take extra precautions to avoid injuries that can cause bleeding.
Treatments for more severe bleeding might include:
- Methods to stop bleeding: Methods like nasal packing for nose bleeds and stitches for surgical or accidental wounds can help stop bleeding.
- Platelet transfusion: A platelet transfusion involves infusing platelets from a donor into your blood. It’s the
most effective treatment for stopping bleeding but comes with a risk of infection or graft-versus-host disease. - Medications:
Corticosteroids like prednisone are commonly used to increase platelet count. Medications like eltrombopag and romiplostim can help your body create more platelets. - Gene therapy: Gene therapy has been shown to be
effective in treating Wiskott-Aldrich syndrome. Research is underway looking at whether it can treat other forms of inherited thrombocytopenia.
Stem cell transplants
Bone marrow transplants are used to treat types of inherited thrombocytopenia that usually lead to death if left untreated.
Here are some frequently asked questions people have about hereditary thrombocytopenia.
Can low blood platelets be hereditary?
A low platelet count can be caused by genes inherited from your parents. More than
What is the most common cause of inherited thrombocytopenia?
The
Can inherited thrombocytopenia disorders be cured?
Almost all inherited thrombocytopenia disorders are potentially curable with a bone marrow transplant. Bone marrow transplants are used to treat severe forms of inherited thrombocytopenia.
Hereditary thrombocytopenia is a low platelet count caused by genes inherited from your parents. Hereditary thrombocytopenia disorders can cause mild symptoms that go undiagnosed into adulthood or severe symptoms that can be life threatening.
Inherited thrombocytopenia disorders that require treatment are usually treated with a platelet transfusion. Life threatening forms of the disease may be treated with a stem cell transplant.