Rare inherited coagulation disorders: a study of 70 cases in the Egyptian population

ABSTRACT

Few Rare Bleeding Disorders [RBD] registries exist, none in Africa. Rare coagulation defects transmitted as autosomal recessive traits are more prevalent in Muslim countries where consanguineous marriages are frequent. To compare the clinical spectrum of some RBD in Egypt with other published data. This is a single centre study with a large number of patients where data were collected over 4 years and a local registry was started. This included, detailed bleeding history; diagnostic events, clinical manifestations and treatment regimens. We report the full clinical data of 70 patients, 61.4% males and 38.6% females with the vast majority the offspring of consanguineous marriage. Afibrinogenemia is the most prevalent constituting 28.6% of the rare coagulation disorders in our hospital registry. Among our group of rare coagulation deficiencies, the most common sites of bleeding were skin and mucous membranes. Most patients received on demand therapy usually on initial presentation and 5 are on prophylactic therapy. The prevalence of these rare coagulation deficiencies is different in the Egyptian population than elsewhere and so further studies including larger number of patients could serve as an important resource for clinicians in different parts of the world in view of rarity of these conditions