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Congenital factor XIII deficiency.
R H Merchant1, B R Agarwal, Z Currimbhoy
1Division of Neonatology, B.J. Wadia Hospital for Children, Parel, Bombay.
Indian Pediatrics
|July 1, 1992
Summary
Factor XIII deficiency, a rare bleeding disorder, presents with severe bleeding symptoms, including CNS bleeds. Early diagnosis and treatment are crucial for managing this inherited coagulation disorder.
Area of Science:
- Hematology
- Pediatric Hematology
- Coagulation Disorders
Background:
- Factor XIII deficiency is a rare inherited bleeding disorder.
- Clinical presentation varies, often with severe bleeding complications.
Observation:
- This study highlights clinical and hematological data from 9 cases of factor XIII deficiency.
- Bleeding manifestations included umbilical bleeding, hematomas, and central nervous system (CNS) bleeds.
- Routine coagulation tests were normal, but clot solubility in 5 molar urea was abnormal in all cases.
Findings:
- Seven out of nine patients experienced umbilical bleeding.
- Four patients had CNS bleeds, with three fatalities.
- A high incidence of CNS bleeds (33%) is noted in cumulative Indian data for this disorder.
Implications:
- Highlights the diagnostic challenge of factor XIII deficiency due to normal routine coagulograms.
- Emphasizes the critical risk of CNS bleeds and associated mortality.
- Suggests the need for specific factor XIII assays and potentially prophylactic strategies.