Symptoms of Glanzmann thrombasthenia

Clinical Features

The clinical manifestations of a total of 232 patients with Glanzmann thrombasthenia have been the subject of two reviews, and Table 121–2 summarizes data from 177 of these patients.10,21 Menorrhagia occurs in nearly all patients, especially at the time of menarche. Purpura can be present immediately after birth but often is not dramatic. Petechiae of the face and subconjunctival hemorrhage associated with crying may be the first symptoms in neonates and babies. Epistaxis is a common symptom and can be life threatening.10,21,99 It usually abates in adulthood. Gingival bleeding can be a chronic source of blood (and iron) loss, especially if the teeth are not kept in good repair.100 Gastrointestinal bleeding was present in 12 percent of patients in one review,10 but was present in 49 percent of patients in another review.21 Gastrointestinal bleeding is usually intermittent, and it is often difficult to identify the bleeding site. Patients with Glanzmann thrombasthenia and vascular abnormalities of the gastrointestinal tract such as hereditary hemorrhagic telangiectasias or angiodysplasia can present severe challenges since bleeding may be recurrent and difficult to control.

Table 121–2. Bleeding in Patients with Glanzmann Thrombasthenia
No. of Affected Patients Frequency (%)
Menorrhagia 54/55 98
Easy bruising, purpura 152/177 86
Epistaxis 129/177 73
Gingival bleeding 97/177 55
Gastrointestinal hemorrhage 22/177 12
Hematuria 10/177 6
Hemarthrosis 5/177 3
Intracranial hemorrhage 3/177 2
Visceral hematoma 1/177 1
Requirement for red cell transfusions
Patients from literature* 32/48 67
Paris patients 54/64 84
*Data are from 177 patients reviewed by George et al10 of whom 113 were from the literature and 64 were studied in Paris.SOURCE: Reproduced with permission from Coller BS.809

Hemarthroses are very rare, and spontaneous ones even rarer, distinguishing Glanzmann thrombasthenia from the hemophilias. Having Glanzmann thrombasthenia undoubtedly increases the risk of excessive bleeding when there is trauma to the central nervous system, but it is remarkable that spontaneous central nervous system bleeding is so rare.10,21

Patients with Glanzmann thrombasthenia do not appear to bleed excessively during pregnancy, but immediate postpartum hemorrhage is very common unless platelet transfusions are administered.10 Delayed postpartum hemorrhage can also be severe; it may be less likely to occur in patients delivered by cesarean section.10 Hypopituitarism after delivery associated with excessive bleeding (Sheehan syndrome) has been reported in a patient with Glanzmann thrombasthenia.101 Surgical procedures, including oral surgery, are usually complicated by excessive bleeding unless prophylactic platelet transfusions are administered.10,21,102

The hemorrhagic diathesis in Glanzmann thrombasthenia is notable for its variability and the lack of correlation between the biochemical platelet abnormalities and clinical severity.10 Even within groups of patients such as the Iraqi Jews, most of whom share the same genetic abnormality and have very similar platelet function and biochemical profiles, there is a wide spectrum of clinical severity.21,27 Moreover, the severity of bleeding symptoms can vary significantly during the lifetime of individual patients. Thus, factors other than the platelet defect itself play important roles in determining the risk of bleeding.

Arterial thrombosis appears to be very rare among patients with Glanzmann thrombasthenia as judged by a lack of reported cases, but venous thrombosis and pulmonary emboli have been reported in several patients, one of whom also had factor V Leiden.102a–d Glanzmann thrombasthenia does not appear to protect against the development of atherosclerosis as judged by the carotid artery intima-to-media ratio.102e Carriers of Glanzmann thrombasthenia are usually asymptomatic and generally have normal results in platelet function tests,10,21 although a prolonged bleeding time has been reported in at least one heterozygote.103