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

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

Contact 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

Hall JE, Hall ME. Hemostasis and blood coagulation. In: Hall JE, Hall ME, eds. Guyton and Hall Textbook of Medical Physiology. 14th ed. Philadelphia, PA: Elsevier; 2021:chap 37.

Neff AT. Von Willebrand disease and hemorrhagic abnormalities of platelet and vascular function. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 164.

Zeller MP, Ning S, Arnold DM, Gabe C. Diseases of platelet number: immune thrombocytopenia, neonatal alloimmune thrombocytopenia, and posttransfusion purpura. In: Hoffman R, Benz EJ, Silberstein LE, Heslop HE, Weitz JI, Salama ME, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 129.


Review Date: 2/2/2023
Reviewed By: Mark Levin, MD, Hematologist and Oncologist, Monsey, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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