What Are Platelet Function Disorders?

Platelets are the smallest blood cells in the body. They help the body form clots to stop bleeding. Platelets are made in the bone marrow, the spongy center inside bones. Under the microscope, they look like tiny plates. Another name for platelets is thrombocytes.

There are different types of platelet function disorders (PFDs):

• Problems with the number of platelets
• Problems with how the platelets work
• Some platelet disorders involve both problems with the number of platelets and problems with how the platelets work.

Platelet function disorders are bleeding disorders in which the platelets do not form a strong blood clot. People with platelet function disorders tend to bleed or bruise more easily. They may have a normal number of platelets or a low platelet count. Their platelet size may be small, normal or large.

Platelet Function Disorder Causes

Platelet function disorders can develop or be inherited.

The most common reason for someone to develop a platelet function disorder is from taking medication. Medicines such as ibuprofen or aspirin can affect platelet function. People with some liver or kidney problems may develop a platelet function disorder.

A genetic change can cause congenital (inherited) platelet function disorders. Experts are identifying more and more genes that play a role in congenital PFDs.

Platelet Function Disorder

Symptoms of platelet function disorders can be mild to severe. They can include:

• Easy bruising
• Frequent nosebleeds
• Gums that bleed a lot
• Heavy menstrual periods (Menorrhagia)
• Prolonged bleeding with surgery

Complications of platelet function disorders can include severe bleeding and low iron levels in the blood.

Platelet Function Disorder Diagnosis

Doctors use blood tests and genetic tests to diagnose platelet function disorders.

Genetic tests can provide useful information for someone with a congenital platelet function disorder. The results can:

• Help doctors develop a more effective treatment plan
• Show whether the platelet function disorder is related to another condition
• Show whether other family members could have the disorder
• Show whether a person is likely to have a child with the same disorder

Platelet Function Disorder Genetic Testing

Cincinnati Children’s offers a genetic test for congenital platelet function disorders. It’s called the platelet disorders gene sequencing panel. It is the most advanced test of its kind. The panel identifies more than 60 genes. New genes are added every few months.

Pediatric hematologists at Cincinnati Children’s provide a detailed report to families and referring doctors. This report explains the test results and can help guide the treatment plan.

This testing is appropriate for children and adults with:

• A history of abnormal bleeding that doctors suspect is related to a platelet function disorder
• Laboratory test results that suggest the person has a platelet function disorder
• Unexplained thrombocytopenia (low blood platelet count) that a doctor does not think is related to a problem with bone marrow function

Treatment for Congenital Platelet Function Disorders

Treatment varies depending on the type of platelet function disorder a person has. People with a mild form may not need any treatment unless they are having surgery or are injured. If surgery is needed, the surgeon may need to take special precautions to prevent excessive bleeding.

This can include:

• Medication to help strengthen the blood’s ability to clot during and after surgery
• Medications to help stabilize clots that form during surgery
• Iron supplements
• Platelet transfusions, which may be needed for people having major surgery or those with a severe platelet function disorder

People with platelet function disorders often must avoid taking aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen. These medications can make platelet function and bleeding symptoms worse. Good oral hygiene is essential, too. This can prevent tooth decay and minimize the risk of bleeding in the mouth and gums.

Treatment for Acquired Platelet Function Disorders

Treating an acquired platelet function disorder usually focuses on fixing the underlying cause. Most of the time treating the cause of the problem corrects the disorder.

Research Efforts for Platelet Function Disorders

Current research to better understand platelet function disorders and develop treatment options is limited. Doctors and scientists at Cincinnati Children’s are identifying more genes that influence platelet function disorders. The ultimate goal is to develop new therapies for these conditions.

Long-term Outlook for Children with Congenital Platelet Function Disorder

People with a congenital platelet function disorder are regularly seen by a doctor who specializes in blood disorders (a hematologist). Some patients with very severe congenital platelet function disorders may be candidates for a bone marrow transplant, a treatment that can replace the body’s platelet-making abilities.

Patients with milder (and more common) forms of a congenital platelet disorder have less effects on their daily lives but still need to take some precautions. These vary from with each patient and might include:

• Taking special precautions with surgery
• Avoiding medications that affect platelets
• Avoiding high-risk activities that can lead to trauma and severe bleeding such as contact sports