Glanzmann's thrombasthenia overview: Difference between revisions
| Line 5: | Line 5: | ||
==Overview== | ==Overview== | ||
'''Glanzmann's thrombasthenia''' is an extremely rare [[ | '''Glanzmann's thrombasthenia''' is an extremely rare [[autosomal recessive]] bleeding syndrome affecting the megakaryocyte lineage, in which the [[platelet]]s lack [[glycoprotein IIb/IIIa]] ([[ITG αIIbβ3]]), <ref name="pmid26185478" /> either qualitative or quantitative. Hence, no [[fibrinogen]] bridging can occur, which results in faulty platelet aggregation and diminished clot retraction. Spontaneous mucocutaneous bleeding is common and can lead to fatal bleeding episodes. | ||
GT is associated with clinical variability: some patients have only minimal bruising while others have frequent, severe and potentially fatal hemorrhages. The site of bleeding in GT is clearly defined: purpura, epistaxis, gingival hemorrhage, and menorrhagia are nearly constant features; gastrointestinal bleeding and hematuria are less common. In most cases, bleeding symptoms manifest rapidly after birth, even if GT is occasionally only diagnosed in later life. Diagnosis should be suspected in patients with mucocutaneous bleeding with absent platelet aggregation in response to all physiologic stimuli, and a normal platelet count and morphology. <ref name="pmid16722529" /> Bleeding time is also significantly prolonged in this disease. | |||
==Historical Perspective== | ==Historical Perspective== | ||
Revision as of 06:35, 2 July 2018
|
Glanzmann's thrombasthenia |
|
Differentiating Glanzmann's thrombasthenia from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Glanzmann's thrombasthenia overview On the Web |
|
American Roentgen Ray Society Images of Glanzmann's thrombasthenia overview |
|
Risk calculators and risk factors for Glanzmann's thrombasthenia overview |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Niyousha Danesh, M.D., MPH.
Overview
Glanzmann's thrombasthenia is an extremely rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage, in which the platelets lack glycoprotein IIb/IIIa (ITG αIIbβ3), [1] either qualitative or quantitative. Hence, no fibrinogen bridging can occur, which results in faulty platelet aggregation and diminished clot retraction. Spontaneous mucocutaneous bleeding is common and can lead to fatal bleeding episodes.
GT is associated with clinical variability: some patients have only minimal bruising while others have frequent, severe and potentially fatal hemorrhages. The site of bleeding in GT is clearly defined: purpura, epistaxis, gingival hemorrhage, and menorrhagia are nearly constant features; gastrointestinal bleeding and hematuria are less common. In most cases, bleeding symptoms manifest rapidly after birth, even if GT is occasionally only diagnosed in later life. Diagnosis should be suspected in patients with mucocutaneous bleeding with absent platelet aggregation in response to all physiologic stimuli, and a normal platelet count and morphology. [2] Bleeding time is also significantly prolonged in this disease.
Historical Perspective
In 1918, Eduard Glanzmann, a Swiss pediatrician, first described this disease.[1]
In 1956, Braunsteiner and Pakesch reviewed disorders of platelet function and described thrombasthenia as an inherited disease characterized by platelets of normal size that failed to spread onto the surface and did not support clot retraction.
In 1964 the diagnostic features of GT, including the absence of platelet aggregation as the primary feature were clearly established by the classic report on 15 French patients by Caen et al.
Those patients with absent platelet aggregation and absent clot retraction were subsequently termed as having type I disease; those with absent aggregation but residual clot retraction, type II disease; while variant disease was first established in 1987.[2]
Classification
Pathophysiology
Causes
Differentiating Glanzmann's thrombasthenia overview from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Natural History
Complications
Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
References
- ↑ 1.0 1.1 Solh T, Botsford A, Solh M (2015). "Glanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options". J Blood Med. 6: 219–27. doi:10.2147/JBM.S71319. PMC 4501245. PMID 26185478.
- ↑ 2.0 2.1 Nurden AT (2006). "Glanzmann thrombasthenia". Orphanet J Rare Dis. 1: 10. doi:10.1186/1750-1172-1-10. PMC 1475837. PMID 16722529.