BACKGROUND: Mild hyperhomocysteinemia due to genetic causes and nutrition factors is well known as an independent strong risk factor for premature arterial occlusive disease.CASE REPORT: A 27-year-old female with a history of two episodes of small bowel ileus due to vascular causes presented with subacute pain in the left lower extremity. Angiography revealed a short segmental occlusion in the P III segment of the popliteal artery with small vessel collateralization and proximal occlusion of the superior mesenteric artery und the coeliac trunk. Vascular risk factors in this patient included smoking over a duration of 10 years, use of oral contraceptives (estrogen and gestagen combination) and elevated levels of homocysteine in the fasting state and after methionin loading. The patient was treated conservatively with intravenous application of prostaglandins, additionally she underwent training to improve her walking capability. After 4 weeks of the fasting state as well as after methionin loading were normalized by an oral substitution with folate and B vitamins. So far it was not possible to prove a genetic defect of the enzymes participating in the metabolism of homocysteine.CONCLUSION: This clinical conference of a young female patient with occlusion of several arteries illustrates the differential diagnosis of premature occlusive vascular disease with special regard to mild hyperhomocysteinemia as an independent risk factor.
Adult Amino Acid Metabolism, Inborn Errors