Idiopathic portal hypertension in a systemic sclerosis patient heterozygous for factor V Leiden mutation.
Here we present a rare case of systemic sclerosis (SSc) with idiopathic portal hypertension (IPH) having factor V Leiden mutation, a well-known genetic risk factor for various venous thromboses. A 53-year-old SSc patient showing huge esophageal varices and splenomegaly without liver cirrhosis was diagnosed with IPH. As heterozygous Leiden mutation was detected, some coagulation abnormality and resultant formation of microthrombi in the branches of portal vein were suggested as a cause of IPH in this case. This is the first report showing the possible association between Leiden mutation and one of the complications of SSc.
Ishii
Masaru
M
Department of Pharmacology, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan. mishii@pharma2.med.osaka-u.ac.jp
Katada
Yoshinori
Y
D018450:Disease Progression; D004932:Esophageal and Gastric Varices / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D005165:Factor V / Q000032:analysis / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D006975:Hypertension, Portal / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018570:Risk Assessment; D012595:Scleroderma, Systemic / Q000150:complications / Q000175:diagnosis*; D012720:Severity of Illness Index
D005165:Factor V