Combined Ala601-Thr-type dysplasminogenaemia and antiphospholipid antibody syndrome in a patient with recurrent thrombosis.
A 44-year-old man was admitted to our hospital because of recurrent thrombosis. Laboratory findings showed that he had antiphospholipid antibody syndrome (APS) associated with systemic lupus erythematosus. Plasminogen activity was reduced (21%), but its antigenic level was rather elevated (16.4 mg/dl). The discrepancy of plasminogen activity and antigen levels was also found in his three daughters. Gene analysis revealed a homozygous missense mutation (Ala601-->Thr) at exon 15 of the plasminogen gene in the patient and a heterozygous mutation in his three daughters, suggesting that the patient has dysplasminogenaemia, which was reported as "plasminogen Tochigi." Although it still remains controversial whether both dysplasminogenaemia and plasminogen deficiency are relevant independent thrombotic risk factors, the combination of this deficiency and APS should be considered as a strong predisposition to thrombosis in this patient.
Iguchi
Seitaro
S
Second Department of Internal Medicine, Niigata University School of Medicine, Niigata, Japan.
Kazama
J James
JJ
Ito
Satoshi
S
Shimada
Hisaki
H
Nishi
Shinichi
S
Gejyo
Fumitake
F
Higuchi
Wataru
W
Fuse
Ichiro
I
D000328:Adult; D016736:Antiphospholipid Syndrome / Q000150:complications* / Q000175:diagnosis; D015415:Biomarkers / Q000097:blood; D001777:Blood Coagulation; D004252:DNA Mutational Analysis; D005192:Family Health; D006720:Homozygote; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000150:complications; D008297:Male; D020125:Mutation, Missense; D010958:Plasminogen / Q000172:deficiency* / Q000235:genetics; D012008:Recurrence; D012307:Risk Factors; D013927:Thrombosis / Q000209:etiology*
D015415:Biomarkers; D010958:Plasminogen