[Homozygous protein C deficiency can be detected by prenatal diagnosis].
Homozygous protein C deficiency (HPCD) with purpura fulminans is a rare condition with an estimated incidence of 1-2 per 400,000 births. About 20 case reports have appeared since the first one was published in 1983. HPCD provides an excellent illustration of the fundamental importance of the protein C anticoagulant pathway. This severe coagulopathy results in serious organ damage, often already in utero, and without treatment it is incompatible with life. The treatment options include fresh frozen plasma and protein C concentrate in the acute phase, followed by oral anticoagulant therapy. Over 160 different point mutations in the protein C gene have been identified in recent years, offering new possibilities for prenatal diagnosis. The article describes the case of a family who lost two children with congenital HPCD. But where the specific point mutation was identified thus enabling prenatal diagnosis to be performed in a subsequent pregnancy.
Sektionen för hematologi/koagulation, Universitetssjukhuset MAS, Malmö.
A
A
Jerkeman
P
P
Henriksson
N O
NO
Jonsson
E
E
Berntorp
D000328:Adult; D001778:Blood Coagulation Disorders / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control; D005260:Female; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D011695:IgA Vasculitis / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011486:Protein C / Q000235:genetics; D020151:Protein C Deficiency
D011486:Protein C
Fosterdiagnostik kan avslöja homozygot protein C-brist.