What are inherited platelet disorders?

Platelets are blood cells that are produced in the bone marrow and have several important functions, including helping the blood to clot when an injury or surgery occurs. Inherited platelet disorder is a term that covers a diverse set of very rare abnormalities of the platelets. Specific conditions include:

  • ADP receptor deficiency
  • Bernard-Soulier syndrome
  • Collagen receptor deficiency
  • Disorders of platelet coagulant function
  • Glanzmann’s disease
  • Hereditary macrothrombocytopenia (this can be further subdivided into the four most common defects associated with this condition, which are the May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome)
  • Platelet storage pool disease (also called platelet granule disorder)
  • Platelet signaling disorders

What are symptoms of an inherited platelet disorder?

Symptoms vary depending on the type of platelet disorder but all platelet disorders involve problems with blood clotting. Patients may have bruising, petechiae, nosebleeds, mouth bleeding and bleeding with injury or surgery. In some cases this bleeding can be life threatening. Some hereditary macrothrombocytopenias may involve problems with the kidneys, hearing loss, and/or cataracts.

How is an inherited platelet disorder diagnosed?

The diagnosis of an inherited platelet disorder is usually made based on the patient’s history together with a family history of similar problems. A complete blood count is performed to look at the number of platelets and platelets are examined for any structural abnormalities. A platelet function assay will help screen for inherited platelet disorders but, many times, more specific platelet aggregation studies, including electron microcopy, are required to confirm the diagnosis.

How are inherited platelet disorders treated?

Treatments vary depending on the type of platelet disorder. Some possible treatments include:

  • DDAVP. This medication, also known as desmopressin or Stimate®, is a man-made hormone, given by injection or nasal spray. Unfortunately, it does not work for all patients.
  • Fibrinolytic inhibitors. Amicar is a medication that is administered to help stop the breakdown of a clot following its formation. This medication is particularly helpful in the treatment of mucous membrane bleeding such as nosebleeds and mouth bleeding.
  • Platelet transfusions. In some cases with more serious bleeding, an infusion of platelets is needed. This can be administered through Children’s infusion center.
  • Bone marrow/stem cell transplants. This involves the infusion of healthy bone marrow or stem cells into your child’s body. Other procedures and treatments, such as chemotherapy and/or radiation, may be necessary before the transplant occurs. A transplant rarely is needed for inherited platelet disorders and is performed only when other methods of therapy have failed and bleeding is life threatening.

About treatment for inherited platelet disorders at Children’s

Children’s cancer and blood disorders program achieves outcomes that rank among the top national programs and cares for more than two-thirds of Minnesota children and adolescents with blood disorders. Care for inherited platelet disorders is provided through a division of the cancer and blood disorders program called the Center for Bleeding and Clotting Disorders. Through the center, families have access to the newest and most promising treatments and receive care spearheaded and coordinated by a board-certified hematologist/oncologist.

Contact us

If you are a family member looking for a Children’s hematologist or oncologist or wanting to schedule an appointment, please call our clinic at Children’s – Minneapolis at 612-813-5940.

If you are a health professional looking for consultation or referral information, please call Children’s Physician Access at 1-866-755-2121 (toll-free) and ask for the on-call hematologist/oncologist.