PEDBASE.org - The Pediatric Database - Detailed information of HEMOPHILIA C

HEMOPHILIA C

DEFINITION:

A coagulation disorder characterized by a deficiency in Factor XI resulting in a bleeding diathesis.

EPIDEMIOLOGY:

incidence: rare (2-3% of Hemophilias)
age of onset:
- childhood
risk factors:
- familial - autosomal recessive
  - chrom.#: 4q35
  - gene: coagulation factor XI
- Ashkenazi Jews

PATHOGENESIS:

1. Background

Factor XI is a component of the Intrinsic Pathway and in its activated form (XIa) activates Factor IX

2. Genetic Defect

genetic defect -> deficiency of Factor XI -> bleeding diathesis
only homozygotes have a bleeding problem
no spontaneous bleeding

CLINICAL FEATURES:

1. Hematological Manifestations

epistaxis
hematuria
menorrhagia
postoperative and post trauma

INVESTIGATIONS:

1. Serum

prolonged PTT
decreased Factor XI
- homozygotes: 1-10% of normal
- heterozygotes: 30-65% of normal
normal PT, bleeding time, thrombin time, platelet count

MANAGEMENT:

1. Supportive

avoid trauma and anticoagulants (i.e., ASA)
pressure and cold compresses to bleeding sites

2. Replacement Therapy

Fresh Frozen Plasma
- 10-15cc/kg q24h

Pediatric Database - HEMOPHILIA C

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