Glanzmann's Disease: The Rare Genetic Disorder You've Never Heard Of!

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Chapters

0:00 Introduction
0:24 Causes of Glanzmann’s Disease
1:03 Symptom of Glanzmann’s Disease
1:23 Diagnosis of Glanzmann’s Disease
1:48 Treatment of Glanzmann’s Disease
2:30 Complications of Glanzmann’s Disease
is an abnormality of the platelets.[2] It is an extremely rare coagulopathy (bleeding disorder due to a blood abnormality), in which the platelets contain defective or low levels of glycoprotein IIb/IIIa (GpIIb/IIIa), which is a receptor for fibrinogen. As a result, no fibrinogen bridging of platelets to other platelets can occur, and the bleeding time is significantly prolonged.
Signs and symptoms

Characteristically, there is increased mucosal bleeding:[3]

heavy menstrual bleeding
easy bruising
nosebleeds
Bleeding from the gums
gastrointestinal bleeding
postpartum bleeding
increased postoperative bleeding.

The bleeding tendency is variable but may be severe. Bleeding into the joints, particularly spontaneous bleeds, are very rare, in contrast to the hemophilias. Platelet numbers and morphology are normal. Platelet aggregation is normal with ristocetin, but impaired with other agonists such as ADP, thrombin, collagen, or epinephrine.[citation needed]
Cause

Glanzmann's thrombasthenia can be inherited in an autosomal recessive manner[3][4] or acquired as an autoimmune disorder.[3][5]

The bleeding tendency in Glanzmann's thrombasthenia is variable,[3] some individuals having minimal bruising, while others have frequent, severe, potentially fatal hemorrhages. Moreover, platelet αIIbβ3 levels correlate poorly with hemorrhagic severity, as virtually undetectable αIIbβ3 levels can correlate with negligible bleeding symptoms, and 10%–15% levels can correlate with severe bleeding.[6] Unidentified factors other than the platelet defect itself may have important roles.[3]
Pathophysiology

Glanzmann's thrombasthenia is associated with abnormal integrin αIIbβ3, formerly known as glycoprotein IIb/IIIa (GpIIb/IIIa),[7] which is an integrin aggregation receptor on platelets. This receptor is activated when the platelet is stimulated by ADP, epinephrine, collagen, or thrombin. GpIIb/IIIa is essential to blood coagulation since the activated receptor has the ability to bind fibrinogen (as well as von Willebrand factor, fibronectin, and vitronectin), which is required for fibrinogen-dependent platelet-platelet interaction (aggregation).[citation needed] Understanding of the role of GpIIb/IIIa in Glanzmann's thrombasthenia led to the development of GpIIb/IIIa inhibitors, a class of powerful antiplatelet agents.[4][8]
Diagnosis
Light transmission aggregometry is widely accepted as the gold standard diagnostic tool for assessing platelet function, and a result of absent aggregation with any agonist except ristocetin is highly specific for Glanzmann's thrombasthenia.[9] Following is a table comparing its result with other platelet aggregation disorders:

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