High Incidence of Von Willebrand’s Disease in a Little Area of South Italy

In a little region of South Italy(Puglia),we have evidenced 20 families (f.) with von Willebrand’s disease(vWd). The following tests were performed: BT, PR, RIPA, FVIII: C, FVIIIR: AG, FVIIIR:RCo and electrophoretic mobility (EM) of FVIII-related protein. 4 f. showed an autosomic recessive inheritance and severe bleeding tendency, every laboratory value was definitely abnormal. 16 f. showed an autosomic dominant inheritance and moderate bleeding tendency. Of these: 4 f. had classical vWd with all parameters reduced and normal EM; 3 f. showed a vWd vari ant (FVIII:C and FVIIIR:RCo reduced, FVIIIR:AG normal), the EM being abnormal in one and the RIPA increased in an other; 6 f. presented a decreased FVIIlR:RCo with normal FVIII:C and FVIIIR:AG (the EM was always normal); 3 f. showed an isolated deficiency of FVIIIR:RCo respectively combined with 1) FV deficiency (Bari variant), 2) FXII deficiency (San Diego variant), 3) hereditary hemorrhagic telangectasia.

 

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