Congenital histidine-rich glycoprotein deficiency.
The proband, a 43-year-old woman, suffered from right transverse sinus thrombosis during oral contraceptive treatment. A month after stopping the drug, her plasma activities of antithrombin III, protein C, protein S, heparin cofactor II, plasminogen and plasminogen activator inhibitor were normal, but her plasma histidine-rich glycoprotein (HRG) level was only 21% of the normal level of 109.5 +/- 51.5% (mean +/- 2 SD). The HRG concentrations in her plasma determined on four different occasions over 6 months were similar. She showed no clinical signs of liver insufficiency or sepsis. Low levels of plasma HRG (20% to 35% of normal) were also found in her aunt, uncle and two daughters. These results suggest that congenital HRG deficiency is inheritary in this family.
Shigekiyo
T
T
First Department of Internal Medicine, School of Medicine, University of Tokushima, Japan.
Ohshima
T
T
Oka
H
H
Tomonari
A
A
Azuma
H
H
Saito
S
S
D000328:Adult; D001798:Blood Proteins / Q000172:deficiency* / Q000235:genetics; D003241:Consanguinity; D003277:Contraceptives, Oral, Combined / Q000009:adverse effects; D003278:Contraceptives, Oral, Hormonal / Q000009:adverse effects; D004997:Ethinyl Estradiol / Q000009:adverse effects; D005260:Female; D006801:Humans; D009644:Norgestrel / Q000009:adverse effects; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012851:Sinus Thrombosis, Intracranial / Q000097:blood / Q000139:chemically induced / Q000209:etiology* / Q000235:genetics; D000099053:Histidine-Rich Glycoprotein
D001798:Blood Proteins; D003277:Contraceptives, Oral, Combined; D003278:Contraceptives, Oral, Hormonal; D011506:Proteins; D000099053:Histidine-Rich Glycoprotein; D009644:Norgestrel; D004997:Ethinyl Estradiol