Osler-Weber-Rendu disease is characterized by epistaxis, cutaneous telangiectasia, and visceral arteriovenous malformations (AVMs). A 65-year-old male with recurrent epistaxis, old infarction and recent multiple rib fractures caused by a bicycle accident had middle cerebral thromboembolic infarctions when he stopped taking clopidogrel due to massive epistaxis and hemopneumothorax. On examinations, there was no focal cerebral stenosis, but there were telangiectasia, pulmonary and hepatic AVMs. A suspicious Osler-Weber-Rendu disease patient should be evaluated by proper screening and regular follow-up to minimize serious sequelae such as thromboembolic stroke.
Aged ; Arteriovenous Malformations ; Cerebral Infarction ; Constriction, Pathologic ; Epistaxis ; Follow-Up Studies ; Hemopneumothorax ; Humans ; Infarction ; Infarction, Middle Cerebral Artery* ; Male ; Mass Screening ; Middle Cerebral Artery* ; Rib Fractures ; Stroke ; Telangiectasis

Alterations in sulfur amino acid metabolism are associated with an increased risk of a number of common late-life diseases, which raises the possibility that metabolism of sulfur amino acids may change with age. The present study was conducted to understand the age-related changes in hepatic metabolism of sulfur amino acids in 2-, 6-, 18- and 30-month-old male C57BL/6 mice. For this purpose, metabolite profiling of sulfur amino acids from methionine to taurine or glutathione (GSH) was performed. The levels of sulfur amino acids and their metabolites were not significantly different among 2-, 6- and 18-month-old mice, except for plasma GSH and hepatic homocysteine. Plasma total GSH and hepatic total homocysteine levels were significantly higher in 2-month-old mice than those in the other age groups. In contrast, 30-month-old mice exhibited increased hepatic methionine and cysteine, compared with all other groups, but decreased hepatic S-adenosylmethionine (SAM), S-adenosylhomocysteine and homocysteine, relative to 2-month-old mice. No differences in hepatic reduced GSH, GSH disulfide, or taurine were observed. The hepatic changes in homocysteine and cysteine may be attributed to upregulation of cystathionine β-synthase and down-regulation of γ-glutamylcysteine ligase in the aged mice. The elevation of hepatic cysteine levels may be involved in the maintenance of hepatic GSH levels. The opposite changes of methionine and SAM suggest that the regulatory role of SAM in hepatic sulfur amino acid metabolism may be impaired in 30-month-old mice.
Aging ; Amino Acids, Sulfur ; Animals ; Child, Preschool ; Cystathionine ; Cysteine ; Down-Regulation ; Glutathione ; Homocysteine ; Humans ; Infant ; Male* ; Metabolism* ; Metabolomics ; Methionine ; Mice* ; Plasma ; S-Adenosylhomocysteine ; S-Adenosylmethionine ; Sulfur* ; Taurine ; Up-Regulation