Gray platelet syndrome is an inherited disease that can cause mild to moderate bleeding. People with this condition tend to bruise easily, experience nosebleeds, and may have increased surgical bleeding.
Gray platelet syndrome gets its name from how the platelets in people with this condition appear under a microscope. Platelets are specialized blood cells that allow your blood to clot and stop bleeding.
Many conditions can cause blood clotting problems that range from mild to life threatening. Gray platelet syndrome tends to cause mild to moderate bleeding. It usually doesn’t affect life span but can lead to serious complications for some people, such as spleen rupture.
Read on to learn more about this rare condition, including its causes, symptoms, and treatment options.
Gray platelet syndrome was first described in medical literature in 1971. It’s an inherited condition, meaning it develops when you receive associated genes from your parents. It’s been linked to mutations in the NBEAL2 gene.
NBEAL2 seems to code for the formation of special sacs inside platelets called alpha-granules. Proteins in these sacs help platelets stick together and help seal off damaged blood vessels.
Gray platelet syndrome seems to be inherited in a recessive pattern, meaning you only develop the condition if you receive an abnormal copy of an associated gene from both parents.
According to researchers in a 2022 case study, only 60 cases of gray platelet syndrome have been reported in medical literature.
People with gray platelet syndrome tend to have large and abnormal platelets that make them prone to abnormal bleeding. Some of the characteristic symptoms of gray platelet syndrome include:
- frequent nosebleeds
- abnormally heavy bleeding from minor injuries
- excessive bleeding during surgery
- irregular and heavy menstruation
Abnormal bleeding in people with gray platelet syndrome is typically mild to moderate, but it may cause life threatening bleeding in some cases. It usually becomes apparent in early childhood.
Autoimmune disease seems to be common in people with gray platelet syndrome. In a 2020 study, researchers detected autoantibodies in over half of 47 people with gray platelet syndrome.
Autoimmune diseases that have been reported in people with gray platelet syndrome include:
Gray platelet syndrome may lead to serious bleeding for some people, especially during surgery or from severe injuries.
People with gray platelet syndrome often develop a condition called myelofibrosis, in which scar tissue forms in the bone marrow that produces blood cells. To compensate, your spleen may start producing more blood cells, which may lead to an enlarged spleen.
One rare case of spleen rupture was reported in a 15-year-old as the presenting sign of gray platelet syndrome.
It’s important to seek medical attention if you believe you may have a bleeding disorder. There are many reasons you may bleed excessively. Genetic testing is often needed to find the underlying cause.
Your doctor may suspect that you have a bleeding disorder based on your symptoms and history of bleeding. To start the diagnostic process, they will likely:
- review your personal medical history
- review your family medical history
- perform a physical exam to look for characteristic signs, like an enlarged spleen
If your doctor suspects a bleeding disorder after this initial review, they’ll likely recommend blood tests. You might receive tests
- complete blood count (CBC)
- partial thromboplastin time test
- prothrombin time test
- mixing test to look for autoantibodies
- clotting factor tests
- genetic testing
- tests for other medical conditions
Most people with gray platelet syndrome are treated for their symptoms depending on the degree of bleeding. You may receive:
- anti-fibrinolytic drugs to improve blood clotting
- medications to prevent surgical bleeding
- platelet transfusions
- eltrombopag to increase platelet count
Your doctor may also recommend avoiding nonsteroidal anti-inflammatory drugs (NSAIDs), like ibuprofen (Advil).
An allogeneic stem cell transplant remains the only way to cure gray platelet syndrome. It’s usually only considered for younger people with severe symptoms.
The procedure involves receiving a high amount of chemotherapy to destroy abnormal bone marrow cells and then receiving a transfusion of bone marrow cells from a donor who’s a close genetic match. These cells can help your body produce normal platelets.
Many people with gray platelet syndrome live normal or near-normal life spans. Taking extra precautions to avoid injuries that can cause bleeding may help you avoid life threatening complications. Some steps you can take include:
- wearing proper safety equipment during high risk activities
- wearing proper sports equipment
- avoiding smoking and alcohol
- wearing a seat belt when in a motor vehicle
Gene mutations inherited from your parents cause gray platelet syndrome. There’s no known way to prevent it.
Gray platelet syndrome is a rare genetic condition that causes excessive bleeding. Most people develop mild to moderate bleeding, but it has been associated with life threatening complications in some cases.
Speak with a doctor if you believe you may have a bleeding disorder. Many bleeding disorders can cause similar symptoms and require genetic testing to tell them apart.