Congenital platelet function defects are problems with one of the blood elements needed for clots to form normally. These cells are called platelets. Congenital means present from birth.
Platelet storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital
Congenital platelet function defects are bleeding disorders that cause reduced platelet function, even though there are normal platelet numbers.
Most of the time, people with these disorders have a family history of a bleeding disorder:
Bernard-Soulier syndrome occurs when platelets lack a substance that sticks to the walls of blood vessels. This disorder may cause severe bleeding.
Glanzmann thrombasthenia is a condition caused by the lack of a protein needed for platelets to clump together. This disorder may also cause severe bleeding.
Platelet storage pool disorder (also called platelet secretion disorder) occurs when substances called granules inside platelets aren't stored or released properly. Granules help platelets function properly. This disorder causes easy bruising or bleeding.
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.
Rita Nanda, MD, Assistant Professor of Medicine, Section of Hematology/Oncology, University of Chicago Medicine, Chicago, IL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.