Thrombosis and Haemostasis · 1961 · 310 citations · 0 references
MedicineGeneticsHematologyGenodermatosesHemostasisHuman GeneticsBleeding DisordersCoagulation AbnormalitiesCoagulation DisordersCoagulation Factor DeficienciesHemostatic DisordersThrombotic DisordersAutosomal Recessive InheritanceBleedingBleeding DiathesisCongenital Bleeding DisordersDisorders Of FibrinolysisFibrin StabilizationHereditary Bleeding DisordersInherited Coagulation Factor Deficiencies
A novel congenital haemorrhagic diathesis has been identified, likely involving the fibrin stabilizing factor of Laki and Lorand, though its precise identity remains unproven. The disorder results from a deficiency of a factor that renders fibrin clots insoluble in urea. Patients show poor wound healing, prolonged bleeding, and lack of spontaneous or joint bleeding, and the condition appears autosomal recessive in both sexes.
Summary A new congenital haemorrhagic diathesis is described. It is characterized by the poor and slaw wound healing, profuse and long bleeding and by probable absence of spontaneous and joint bleeding. It is due to the deficiency of a factor which makes the fibrin clots insoluble in urea. This factor is probably the fibrin stabilizing factor of Laki and Lorand, although no proof of their identity can yet be given. The deficiency appears in both sexes and is probably an autosomal recessive disease.