Homocysteine and "Buerger's disease".

42 year old woman presented with ischaemic left leg pain. There had been a right above knee amputation two years previously when Buerger's disease was diagnosed. However, on review of the arteriogram there was proximal disease in the superficial femo-ral artery suggesting atherosclerotic disease , and typical arteriographic features of Buerger's disease were absent. She had been a smoker of 30 cigarettes per day since age 16 years. At presentation two years after the right above knee amputation, the posterior tibial and dor-salis pedis pulses were absent in the left foot but there were no ischaemic ulcers in the toes. The following investigations were normal or negative: fasting blood sugar, lipid profile, C reactive protein, antinuclear antibody, rheumatoid factor, complement, anticentromere antibody, anti-Scl-70, anticardiolipin antibody, and thrombophilia screen. An echocardio-gram was also normal. Serum homocysteine was 117.9 µmol/l (5.5–13.6), serum methionine was 16 µmol/l (22–32), serum folic acid was 3.5 ng/ml (3.2–12.4), serum vitamin B12 was 225 pg/ml (158–1050), and serum vitamin B6 was 45 nmol/l (15–73). Genetic testing revealed the patient was homozygous (TT) for the C677T polymorphism of methylenetetrahydro-folate (MTHFR). QUESTIONS (1) Which conditions should be excluded before making a diagnosis of Buerger's disease? (2) What are the causes of a raised serum homocysteine? (3) What is the appropriate treatment for this patient? A 26 year old woman presented with history of recurrent colicky abdominal pain since childhood. There was a history suggestive of steator-rhoea, polyuria, and polydipsia of eight years' duration. On general examination she had pulse rate of 80 beats/min, blood pressure 124/80 mm Hg, and there was no postural hypotension. Her height was 130 cm, weight 28 kg, body mass index 17 kg/m 2 , waist circumference (W) 25 cm, hip circumference (H) 27 cm, and her W/H ratio was 0.9. There was pitting pedal oedema and loss of skinfold thickness. Systemic examinations including ophthalmoscopic examination were normal. Investigations revealed normal complete blood count, fasting blood glucose 11.1 mmol/l, postprandial blood glucose 14.2 mmol/l, and glycated haemoglobin was 10%. Her serum protein was 50 g/l and corrected serum calcium as well as lipid profile was normal. There was no evidence of ketonuria or microalbuminuria. A plain radiograph of the abdomen showed radio-opaque shadow at the level of right side of first lumbar vertebra. Contrast enhanced computed tomography of the abdomen was done and was abnormal (fig 1). QUESTIONS (1) What is the diagnosis? (2) What …