Hereditary Pseudohemophilia

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ABNORMAL bleeding is a frequent clinical problem, and as a rule its diagnosis offers the clinician little difficulty. In the majority of patients with hemorrhagic diathesis the bleeding is associated with (1) an altered permeability of the capillary endothelium, allowing the escape of erythrocytes from the blood vessels, or (2) an abnormality of the clotting mechanism itself. Increased vascular permeability may be due to a platelet deficiency, as in thrombocytopenic purpura, or to impairment of the endothelial nutrition, as in vitamin C deficit. Various drugs, toxins, and possibly certain allergic states are also responsible for capillary injury and increased permeability capable of producing abnormal bleeding. Hemorrhagic diseases such as hemo-philia, hypothrombinemia, and afibrinogenemia are associated with a defective clotting system.

An atypical variety of hemorrhagic diathesis occurs, however, which does not conform to the entities embraced by the usual classification of bleeding problems. Known as hereditary pseudohemophilia, this disease is characterized by excessive bleeding associated with prolonged bleeding time, normal platelets, without demonstrable defect in the clotting mechanism, and normal clot retraction.

Case Reports

Case 1. A boy, aged 6, was referred because of abnormal bleeding since infancy. He had bled profusely from minor wounds, and several times slight cuts had produced bleeding which lasted for several hours. At the age of 3 he had fallen, causing severe bleeding from the throat and mouth for twenty-four hours. This had necessitated hospitalization for four days. After this episode he was apparently asymptomatic until three weeks before admission, when he developed. . .



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