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Brynja R. Guðmundsdóttir
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Other TitlesCongenital deficiency of coagulation factor VII in an Icelandic family
CitationLæknablaðið 2004, 90(5):385-388
AbstractCongenital 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.
Lýst er sjaldgæfum blæðingasjúkdómi, ættgengum skorti á storkuþætti VII, í íslenskri fjölskyldu. Sjúkdómurinn erfist ókynbundið og yfirleitt víkjandi þannig að einkenni koma sjaldan fram nema þegar báðir erfðastofnarnir sem tjá storkuþátt VII eru gallaðir og mikill skortur er á storkuþætti VII. Tíu systkini reyndust öll hafa skort á storkuþætti VII. Fjögur höfðu skort á háu stigi og voru þess vegna sennilega með galla í báðum erfðastofnunum. Sex höfðu miðlungsskort og voru því sennilega með annan erfðastofninn eðlilegan en hinn gallaðan. Þetta bendir til þess að annað foreldri þeirra hafi haft galla í báðum erfðastofnum sínum en hitt aðeins í öðrum. Foreldrar þeirra voru þremenningar að skyldleika. Aðeins eitt af systkinunum hafði staðfesta blæðingahneigð. Það var karlmaður sem fékk endurteknar liðblæðingar frá barnsaldri og varð að lokum óvinnufær vegna liðskemmda. Ekkert af hinum systkinunum hafði greinileg merki um blæðingahneigð og engar sagnir voru um blæðingahneigð hjá forfeðrum eða formæðrum þeirra. Höfundum er ekki kunnugt um að þessi sjúkdómur hafi fundist hjá öðrum Íslendingum.
DescriptionNeðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Open
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