Laboratory and clinical investigation of chronic liver disease in haemophilia

Haemophilia A (FVIII deficiency), haemophilia B (FIX deficiency) and von Willebrands Disease (VWD) are the commonest congenital coagulation disorders. The severity of clinical bleeding problems in haemophiliacs is directly related to the baseline factor level in an affected individual. Severely affected haemophiliacs (baseline FVIII or IX level less than 1% of normal) experience recurrent spontaneous bleeding particularly into joints leading to progressive arthropathy and are also at risk of intracranial and other types of life-threatening haemorrhage. Haemophiliacs with higher baseline factor levels usually only bleed after trauma. Prior to the development of modern treatment the average life expectancy for severely affected individuals was less than 30 years (Larsson & Wiechel, 1983).;VWD is a heterogeneous disorder due to a quantitative or qualitative deficiency of von Willebrand factor. Clinical bleeding problems range from mucosal and post traumatic bleeding in mild disease to spontaneous haemorrhage in severe VWD.;Treatment of Haemophilia - Historical Aspects.;The use of whole blood transfusion in the treatment of haemophiliac bleeding was first described in 1840 (Lane, 1840). In the early part of the 20th century it was established that separated plasma was effective in the treatment of bleeding episodes (Payne & Steen, 1929). This was presumed to be due to the replacement of deficient factors by "Anti-haemophiliac Globulin" (AHG). In the 1950s/1960s considerable advances occurred following the distinction between haemophilia A and haemophilia B (Biggs et al, 1952). The process of thawing frozen plasma was found to concentrate much of the AHG activity in the "cryoprecipitate" (Pool & Shannon, 1965). This enabled treatment to be given much more effectively to haemophiliacs.