Inherited Platelet Disorders

What is an inherited platelet disorder?

An inherited platelet disorder is a condition where the platelets in the blood do not function properly. Platelets are essential for blood clotting and help stop bleeding by forming clots at the site of an injury. Inherited platelet disorders can cause easy bruising, prolonged bleeding after injury or surgery, and spontaneous bleeding, such as nosebleeds or bleeding in the gums.

Inherited platelet disorders include conditions like Bernard-Soulier Syndrome, Glanzmann Thrombasthenia, Storage Pool Disorders and several other rare platelet function disorders. The severity of the disorder varies from mild to severe, depending on how much platelet function is affected.

What are the symptoms of inherited platelet disorders?

Symptoms can vary depending on the specific platelet disorder and how severe it is. Common symptoms in children may include:

• Easy bruising, especially after minor bumps or falls
• Prolonged bleeding after cuts, scratches, or surgery
• Frequent nosebleeds, or nosebleeds that last a long time
• Bleeding in the gums or mouth, or bleeding for a long time after losing a tooth
• Heavy or prolonged menstrual bleeding (in girls)
• Blood in the urine or stool
• Unexplained or spontaneous bruising or petechiae (small red or purple spots under the skin)
• Difficulty stopping bleeding after injury, including cuts or dental work

What causes inherited platelet disorders?

Inherited platelet disorders are caused by genetic mutations passed down from parents and some can be new mutations. These mutations affect how platelets are formed or function in the blood.

How are inherited platelet disorders treated?

Treatment for inherited platelet disorders depends on the specific disorder, its severity, and the symptoms your child is experiencing. While there is no "cure" for inherited platelet disorders, many children can lead active lives with appropriate management. The goal of treatment is to prevent excessive bleeding and manage symptoms.

Treatment options may include:

• Platelet transfusions. In some cases, platelet transfusions may be used to increase platelet numbers or function during severe bleeding episodes or before surgery.
• Desmopressin (DDAVP). This medication can be used in certain platelet disorders to help stimulate the body’s platelets to work more effectively, especially in conditions like Storage Pool Disorders.
• Antifibrinolytics. Medications such as tranexamic acid or aminocaproic acid can help prevent bleeding by stabilizing blood clots and preventing them from breaking down too quickly.
• Lifestyle adjustments. Your care team may recommend avoiding certain activities or situations where your child may be at higher risk for injury or bleeding. You may also receive advice about how to handle everyday injuries, dental care, and other aspects of care.

Because inherited platelet disorders are rare and often complex, the team at the Arkansas Center for Bleeding and Clotting Disorders is here to provide you and your child with the support, education, and specialized care needed to manage the condition.