RT Journal
A1 Lane DM, McConathy WJ, Comp PC, Gilcher RO
T1 AFibrinogenemia and hypobetalipoproteinemia in a kindred
JF Archives of Internal Medicine
JO Archives of Internal Medicine
YR 1991
FD April 1
VO 151
IS 4
SP 800
OP 804
DO 10.1001/archinte.1991.00400040134032
UL http://dx.doi.org/10.1001/archinte.1991.00400040134032
AB A 3-year-old boy with minor bleeding problems had no plasma fibrinogen measured by both clottable assay and immunoprecipitation. Low normal fibrinogen levels were present in the mother and father. Markedly decreased plasma cholesterol and apolipoprotein B levels were found in the father, proband's brother, and the paternal side of the kindred. The proband and his mother had normal plasma total cholesterol and apolipoprotein B levels. These findings are compatible with autosomal dominant transmission of hypobetalipoproteinemia and autosomal recessive transmission of afibrinogenemia. Two members of the father's family had plasma cholesterol levels below the fifth percentile but elevated levels of fibrinogen (6.0 and 4.4 g/L). Both have symptomatic coronary heart disease. Finding coronary heart disease with very low cholesterol but elevated fibrinogen levels is consistent with fibrinogen levels being an independent risk factor for coronary heart disease.(Arch Intern Med. 1991;151:800-804)