About platelet dysfunction in children

Platelets are one of the components in your blood that help stop bleeding. If you have a platelet dysfunction, it means forming a blood clot to stop the bleeding is more difficult than normal.

Platelet dysfunction can be grouped by inherited (passed down from your parents) and non-inherited disorders.

Inherited platelet disorders

The inherited disorders include a large and varied number of very rare conditions. Most of these have certain genetic markers that can help let doctors know they should test your child.

Types of inherited platelet disorders

• Giant platelet disorders — Inherited platelet disorders with giant platelets are quite rare. These include Bernard-Soulier syndrome,  gray platelet syndrome, May-Hegglin anomaly and Medich syndrome.
• Wiskott-Aldrich syndrome — This X-linked recessive disorder is characterized by immunodeficiency, severely dysfunctional platelets and thrombocytopenia with small platelets rather than giant platelets.
• Storage pool disorders — In addition to the gray platelet syndrome with deficiency of alpha granules, there are dense granule deficiencies that are often part of other congenital disorders. Wiskott-Aldrich syndrome is one such example. Chediak-Higashi syndrome, Hermansky-Pudlak syndrome and thrombocytopenia-absent radius syndrome are others. 
• Glanzmann thrombasthenia — Glanzmann thrombasthenia is an autosomal recessive bleeding disorder characterized by a defect in the platelet surface glycoprotein.
• Platelet release disorders — Platelet signal transduction disorders are a heterogeneous group that can present with clinical bleeding. They have in common either abnormal primary or secondary platelet aggregation and decreased platelet granule release without actual deficiency of platelet granules. These are difficult to diagnose and characterization of the specific defect in a patient requires specialized testing often available only in the research setting.

In addition, there are multiple case reports of additional inherited platelet defects that have not yet been fully characterized.

Non-inherited platelet disorders

Non-inherited or acquired platelet dysfunction is much more common and is often caused by drugs such as aspirin and other medicines that are therapeutically used as “blood thinners.”

Additionally, acquired dysfunction can be caused by diseases that affect platelet function, including cirrhosis, multiple myeloma, kidney disease and systemic lupus erythematosus (lupus).

What are the symptoms of platelet dysfunction?

The main symptoms associated with platelet dysfunction include:

• Easy bruising
• Petechiae (tiny red, flat spots that appear on your skin)
• Nosebleeds
• Bleeding gums
• Heavy menstrual bleeding

A few of the rare inherited disorders may also have additional non-hematologic symptoms such as albinism in Hermansky-Pudlak syndrome, immunodeficiencies with Wiskott-Aldrich and Chediak-Higashi syndromes, deafness and renal disease with some giant platelet disorders. If you are concerned with any persistent bleeding, please contact your provider.

How is platelet dysfunction diagnosed?

Our hematologists diagnose this disorder through extensive testing such as:

• A complete blood count. Although the platelet number may be normal, platelet morphology (the size and granule density) can be checked.
• Studies of platelet function are difficult and very time sensitive. Many clinical labs do not offer platelet function testing. The study most frequently used is platelet aggregation, but in mild disorders, this may be normal.
• Platelet electron microscopy is helpful in diagnosing storage pool disorders.
• Platelet immunoflow is helpful in looking at surface protein receptors.
• Genetic/molecular panels are also available to help diagnose potential inherited disorders.

How is platelet dysfunction treated?

Each child is unique, which means each treatment plan is tailored to meet every individual child’s needs. Your child’s provider will discuss the treatment options available and work with you to make a care plan.

Depending on the diagnosis, a treatment plan can include:

• Desmopressin — Treatment with DDAVP can be effective in preventing bleeding after dental extraction and minor surgery in patients with milder platelet defects, such as storage pool disease.
• Estrogens — Conjugated estrogens are commonly used for uterine bleeding.
• Platelet transfusion — Transfusion of platelets may be required in patients with platelet function disorders. Platelet transfusions are used in cases of severe, uncontrolled bleeding, when prior treatments (e.g., DDAVP, estrogen) have been unsuccessful, and/or in the presence of, or anticipation of, excessive traumatic or surgical bleeding.
• Antifibrinolytic agents — The use of antifibrinolytic agents (e.g., tranexamic acid, epsilon aminocaproic acid) may be helpful in reducing bleeding in patients with disordered platelet function following dental extraction.
• Recombinant factor VIIa — Recombinant factor VIIa (rFVIIa) has had some success for the treatment of bleeding in patients with congenital platelet disorders.
• Bone marrow or stem cell transplant – A few disorders such as Wiskott-Aldrich and Chediak-Higashi syndromes and severe Glanzmann thrombasthenia may be cured with stem cell transplant.

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