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Case History

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Image not available. A ten-year-old boy presents with a haemarthrosis. A diagnosis of haemophilia A is suspected.

How common are the inherited disorders of coagulation and how does the clinical phenotype vary?

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Background

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Image not available. Inherited deficiencies may occur in any of the coagulation factors. However, the commonest inherited bleeding disorder is von Willebrand’s disease, which is reported to affect as many as 1% of the general population. This is usually due to a quantitative deficiency in von Willebrand factor but may be due to a qualitative defect. This is usually a clinically mild bleeding disorder producing mucosal bleeding. Menorrhagia may be problematic and a significant number (17%) of women with menorrhagia and no primary gynaecological pathology have an undiagnosed bleeding disorder, with von Willebrand’s disease being the most frequent.1 The next most common disorder is haemophilia A, the deficiency of factor VIII (FVIII), followed by haemophilia B (deficiency of factor IX). The remaining inherited coagulation deficiencies are rare, although many exhibit autosomal recessive inheritance and thus are more prominent in communities where consanguinity occurs. The features of these rare inherited coagulation factor deficiencies are summarized in Table 5.1.2

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Table Graphic Jump Location
Table 5.1Rare inherited coagulation factor deficiencies (adapted from 1)

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