Congenital platelet function defects


Definition

Congenital platelet function defects are conditions that prevent clotting elements in the blood, called platelets, from working as they should. Platelets help the blood clot. Congenital means present from birth.

Alternative Names

Platelet storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital

Causes

This EM Should be displayed at the top of the article section "Causes"

Congenital platelet function defects are bleeding disorders that cause reduced platelet function.

Most of the time, people with these disorders have a family history of a bleeding disorder, such as:

Symptoms

Symptoms may include any of the following:

Exams and Tests

The following tests may be used to diagnose this condition:

You may need other tests. Your relatives may need to be tested.

Treatment

There is no specific treatment for these disorders. However, your health care provider will likely monitor your condition.

You may also need:

Outlook (Prognosis)

There is no cure for congenital platelet function disorders. Most of the time, treatment can control the bleeding.

Possible Complications

Complications may include:

When to Contact a Medical Professional

Call your provider if:

Prevention

A blood test can detect the gene responsible for the platelet defect. You may wish to seek genetic counseling if you have a family history of this problem and are considering having children.

References

Arnold DM, Patriquin C, Toltl LJ, Nazi I, Smith J, Kelton J. Diseases of platelet number: immune thrombocytopenia, neonatal alloimmune thrombocytopenia, and posttransfusion purpura. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, Anastasi J, eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap 133.

Hall JE. Hemostasis and blood coagulation. In: Hall JE, ed. Guyton and Hall Textbook of Medical Physiology. 13th ed. Philadelphia, PA: Elsevier; 2016:chap 37.

Nichols WL. Von Willebrand disease and hemorrhagic abnormalities of platelet and vascular function. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 173.

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