Congenital platelet function defects
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.
Causes of Congenital platelet function defects
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.
Congenital platelet function defects Symptoms
Symptoms may include any of the following:
- Excessive bleeding during and after surgery
- Bleeding gums
- Easy bruising
- Heavy menstrual periods
- Prolonged bleeding with small injuries
Tests and Exams
The following tests may be used to diagnose this condition:
- Bleeding time
- Complete blood count (CBC)
- Partial thromboplastin time (PTT)
- Platelet aggregation test
- Prothrombin time (PT)
You may need other tests. Your relatives may need to be tested.
Treatment of Congenital platelet function defects
There is no specific treatment for these disorders. However, your health care provider will likely monitor your condition.
You may also need:
- To avoid taking aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen and naproxen, because they can worsen bleeding symptoms.
- Platelet transfusions, such as during surgery or dental procedures.
There is no cure for congenital platelet function disorders. Most of the time, treatment can control the bleeding.
Complications may include:
- Severe bleeding
- Iron deficiency anemia in menstruating women
When to Contact a Health Professional
Call your health care provider if:
- You have bleeding or bruising and do not know the cause.
- Bleeding does not respond to the usual method of control.
Prevention of Congenital platelet function defects
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.
Kottke-Marchant K. Platelet disorders. In: Hsi ED, ed. Hematopathology. 2nd ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 2.
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.
|Review Date: 2/13/2015
Reviewed By: 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.