Platelet storage pool deficiency

Other Names: Platelet storage pool diseases; Storage pool platelet disease Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules.Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding.

Cause

Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Some platelet storage pool deficiencies are due to reduced or absent granules or granule contents. Others occur if the platelets are unable to empty the contents of the platelet granules into the bloodstream. Platelet storage pool deficiencies can be genetic or acquired (non-genetic). The four major genetic forms include dense body deficiency, gray platelet syndrome, Factor V Quebec, and mixed alpha-granule/dense body deficiency. Platelet storage pool deficiency is also a feature of several inherited conditions such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome.

Causes of acquired platelet storage pool deficiencies include:

• Systemic lupus erythematosus
• Cardiovascular bypass
• Hairy-cell leukemia

Inheritance

Platelet storage pool deficiency refers to a group of conditions that can be acquired (non-inherited) or inherited. Hereditary forms of the condition may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

Signs and symptoms

The signs and symptoms of platelet storage pool deficiency vary but may include:

• Frequent nosebleeds
• Abnormally heavy or prolonged menstruation
• Easy bruising
• Recurrent anemia
• Abnormal bleeding after surgery, dental work or childbirth

Diagnosis

A diagnosis of platelet storage pool deficiency is often suspected based on the presence of characteristic signs and symptoms. Specialized laboratory tests can then be ordered to confirm the diagnosis. This testing may include:

• Bleeding time studies
• Platelet aggregation studies
• Peripheral blood smear
• Flow cytometry (detects a reduction in certain types of granules in affected platelets)

Treatment

Treatment for platelet storage pool deficiency is symptomatic. For example, people who have severe episodes of bleeding may require platelet transfusions or antifibrinolytic medications, particularly during periods of high risk such as during surgical procedures or after an injury. Transfusions are generally used with caution as the potential risks often outweigh the benefits when bleeding is not life-threatening. People with a platelet storage pool deficiency should avoid antiplatelet drugs such as aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDS).

NIH genetic and rare disease info

• NIH info on Platelet storage pool deficiency

Platelet storage pool deficiency is a rare disease.

Platelet storage pool deficiency Resources
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