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Rare inherited coagulation disorders in India
R Kashyap1, R Saxena, V P Choudhry
1Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.
Haematologia
|January 1, 1996
Summary
This study diagnosed 24 rare coagulation disorder cases, including factor X, XIII, fibrinogen, VII, and V deficiencies, all presenting with bleeding. Two factor X deficiency patients exhibited unusual thrombosis and pseudotumor presentations.
Area of Science:
- Hematology
- Rare Diseases
- Coagulation Disorders
Background:
- Rare coagulation disorders are infrequently diagnosed.
- Bleeding manifestations are common in these conditions.
Purpose of the Study:
- To report the diagnosis of 24 rare coagulation disorder cases over four years.
- To highlight the diverse clinical presentations, including unusual ones.
Main Methods:
- Retrospective analysis of diagnosed cases.
- Review of patient records for clinical presentation and diagnosis.
Main Results:
- Twenty-four cases of rare coagulation disorders were diagnosed.
- Included deficiencies in factor X (8), factor XIII (7), fibrinogen (4), factor VII (4), and factor V (1).
- Two factor X deficiency patients presented with deep vein thrombosis and a pseudotumor.
Conclusions:
- Rare coagulation disorders require timely diagnosis.
- Factor X deficiency can present with atypical clinical features beyond bleeding.