The diagnosis of platelet function disorders requires a careful medical history and a series of laboratory tests that should be performed by a specialist at a haemophilia treatment centre.
Diagnosis
Bernard-Soulier syndrome
Symptoms of Bernard-Soulier syndrome vary from one individual to the next. Signs of the disorder are usually first noticed during childhood.
People with Bernard-Soulier syndrome may experience:
- Easy bruising
- Nose bleeds
- Bleeding from gums
- Heavy or prolonged menstrual bleeding (menorrhagia) or bleeding after childbirth
- Abnormal bleeding after surgery, circumcision, or dental work
- Rarely, vomiting blood or passing blood in stool due to bleeding from the gut (gastrointestinal haemorrhage)
Bernard-Soulier syndrome often causes more problems for women than men because of menstruation and childbirth.
Diagnosis
The diagnosis of platelet function disorders requires a careful medical history and a series of laboratory tests that should be performed by a specialist at a haemophilia treatment centre.
In people with Bernard-Soulier syndrome:
- The closure time (a test that measures the time it takes for a platelet plug to form a sample of blood) is longer than normal (PFA)
- Platelets appear larger than normal under a microscope
- There are usually fewer platelets than normal
- Platelets do not clump together normally in the presence of ristocetin (a substance that normally promotes platelet aggregation)
- GPIb/IX/V is not detectable in blood samples (using a test called flow cytometry)
Note: Some tests are not available in all centres.
In children, Bernard-Soulier syndrome is sometimes misdiagnosed as immune thrombocytopenic purpura, another type of bleeding problem in which there are also fewer platelets than normal.
Glanzmann thrombasthenia
Symptoms
Symptoms of Glanzmann thrombasthenia vary quite a bit from one individual to the next, from very mild to potentially life-threatening bleeding. Signs of the disorder are usually first noticed during childhood.
People with Glanzmann thrombasthenia may experience:
- Easy bruising
- Nose bleeds
- Bleeding from gums
- Heavy or prolonged menstrual bleeding (menorrhagia) or bleeding after childbirth
- Abnormal bleeding after surgery, circumcision, or dental work
- Rarely, vomiting blood or passing blood in urine or stool due to bleeding in the gut (gastrointestinal haemorrhage) or genito-urinary tract (kidneys, ureters, bladder, and urethra)
Glanzmann thrombasthenia often causes more problems for women than men because of menstruation and childbirth.
Diagnosis
The diagnosis of platelet function disorders requires a careful medical history and a series of tests that should be performed by a specialist at a haemophilia treatment centre.
In people with Glanzmann thrombasthenia:
- The closure time (a test that measures the time it takes for a platelet plug to form in a sample of blood) is longer than normal (PFA)
- Platelets do not clump together the way they should with several different chemicals in a laboratory test (platelet aggregation).
- GP IIb/IIIa is not detectable in blood samples (using a test called flow cytometry)
Storage pool deficiencies
Symptoms
Symptoms of storage pool deficiencies vary from one individual to the next, but they are usually mild to moderate.
People with storage pool deficiencies may experience:
- Easy bruising
- Nose bleeds
- Bleeding from gums
- Heavy or prolonged menstrual bleeding (menorrhagia) or bleeding after childbirth
- Abnormal bleeding after surgery, circumcision, or dental work
Diagnosis
The diagnosis of storage pool deficiencies requires a careful medical history and a series of tests that should be performed by a specialist at a haemophilia treatment centre. In people with storage pool deficiencies:
- Platelets do not clump together the way they should in special laboratory tests (platelet aggregation)
- Granules may not be visible when platelets are looked at with an electron microscope
Content reproduced with permission from www.wfh.org
