title: [Congenital deficiency of coagulation factor VII in an Icelandic family.].
abstract: Congenital deficiency of coagulation factor VII is a rare autosomal and usually recessive genetic bleeding disorder which has been discovered in an Icelandic family. The propositus is a male who experienced intermittent painful inflammation of his ankle joints at the age of 9-10 and later also in his knees, elbow, shoulder, and wrist. Smaller joints were spared, serologies for rheumatoid disease were negative. He was treated for rheumatoid arthritis with limited results and became practically invalid due to his arthritis at the age of 40. At the age of 57, a surgical synovectomy of his knee joint was complicated by postoperative bleeding, and signs of chronic haemorrhagic arthritis were noted in the synovia. Subsequently, a marked prolongation of his prothrombin time and a near total deficiency of coagulation factor VII were discovered. All of his nine siblings were deficient in coagulation factor VII, three of them markedly deficient like the proband and six moderetely deficient. The pattern of inheritance suggests that one of their parents was heterozygous and the other homozygous or doubly heterozygous of genetic deficiency of coagulation factor VII. The parents were second cousins. Of the siblings, only the propositus had a bleeding tendency or arthritis. No evidence of such symptoms in their parents or grandparents was found. This family is the only Icelandic family with congenital deficiency of coagulation factor VII known to the authors.
authors.affiliation: FSA University Hospital, 600 Akureyri, Iceland. vigfus@fsa.is.
authors.forename: Vigfús
authors.initials: V
authors.lastname: Thornorsteinsson
authors.forename: Sigmundur
authors.initials: S
authors.lastname: Magnússon
authors.forename: Soili
authors.initials: S
authors.lastname: Hellman-Erlingsson
authors.forename: Brynja R
authors.initials: BR
authors.lastname: Guðmundsdóttir
authors.forename: Alfreð
authors.initials: A
authors.lastname: Arnason