Platelet storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital
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.
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 may include any of the following:
The following tests may be used to diagnose this condition:
You may need other tests. Your relatives may need to be tested.
There is no specific treatment for these disorders. However, your health care provider will likely monitor your condition.
You may also need:
There is no cure for congenital platelet function disorders. Most of the time, treatment can control the bleeding.
Complications may include:
Call your provider if:
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.
Arnold DM, Zeller MP, Smith JW, Nazy I. Diseases of platelet number: immune thrombocytopenia, neonatal alloimmune thrombocytopenia, and posttransfusion purpura. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 131.
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.BACK TO TOP
Review Date: 1/19/2021
Reviewed By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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