A high incidence of peptic ulcer was found in a retrospective study of 199 Bulgarians with porphyria cutanea tarda. Ulcers were found in 35 patients (17.59%), while its incidence in Bulgaria varies between 2.52 and 3.7%. The site of the ulcer was duodenal in 29 porphyriacs, gastric in three, both duodenal and gastric in two and pyloric in one. The pattern of localization was similar to that seen in the general population. Peptic ulcers became symptomatic before the appearance of porphyria in 30 cases. Six (17.1%) of the patients had perforations, while the frequency of this complication in the general population was 1.7-8.5%. Two porphyriacs with perforations died of peritonitis. Ulcers were found in 21 (24.4%) of 86 patients with normal activity of erythrocyte uroporphyrinogen decarboxylase, i.e. they had sporadic (acquired) porphyria cutanea tarda. Two (10%) of 20 patients suffering from the familial form of the disease (with low erythrocyte uroporphyrinogen decarboxylase activity) had ulcers. The examination of 105 unselected porphyriacs showed a significantly higher incidence of blood group B in comparison with the general population (23.8% vs. 16.6%). The association between the porphyriacs with ulcers and blood group B (8 of 21 examined persons) and the rare occurrence of group O (only 4 of 21) was unexpected. An association between porphyria and some of the haptoglobin types could not be established in 98 unselected patients (including those with and without ulcer). More studies are needed to substantiate the validity of blood groups and uroporphyrinogen decarboxylase as genetic markers for porphyria cutanea tarda combined with peptic ulcer.(ABSTRACT TRUNCATED AT 250 WORDS)
Introduction: Elevated total homocysteine (tHCY) is a known risk factor for atherosclerotic vascular disease, but the mechanism is not well understood. The study was designed to estimate tHCY concentration and other risk factors in coronary heart disease (CHD) males, evaluating two different methods for tHCY measurement: gas chromatography-mass spectrometry (GC-MS) method and competitive immunoassay method. Materials and Methods: Fifty men, mean age 53.9 years with CHD and a body mass index (BMI) >25.0, were examined for tHCY concentrations, lipids, blood glucose, uric acid, complete blood picture and erythrocyte sedimentation rate and high-sensitive C-reactive protein (hsCRP). Biochemical and hematological indices were determined by routine methods, hsCRP – by immunometric chemiluminescence method, and tHCY – by two different methods: a gas chromatographic method, using GC-MS and a competitive immunoassay method on an Immulite device. Results: The mean values of the lipids showed moderate dyslipidemia while the other parameters were within reference range. Mean BMI was 28.5 ± 0.42. Values of tHCY determined by the immunoassay method were 13.2 ± 0.95 µmol/l, and determined by GC-MS – 14.6 ± 1.09 µmol/l. We found a linear agreement between the DPC and GC-MS sets of measurements (r = 0.87, p ≤ 0.001). The median tHCY concentrations measured by immunoassay werelower than those measured with GC-MS, but differences were insignificant. An agreement between the competitive immunoassay and the GC-MS method evaluated by the Bland and Altman method was found. tHCY was >15 µmol/l in 12 patients as determined by the competitive immunoassay, and in 15 patients by the GC-MS method. tHCY levels were between 10 and 15 µmol/l in 24 patients by the immunoassay and in 29 patients by the GC-MS method. Twenty-four percent of the patients with CHD have an ‘increased risk’ with tHCY >15 µmol/l, and 48% are in the ‘gray zone’ with tHCY levels between 10 and 15 µmol/l. Conclusions: 40.8% of the studied patients had increased tHCY levels, not associated with the other lipid and nonlipid risk factors. The closest conformity between GC-MS and immunoassay methods was observed for serum tHCY concentrations. The between-method comparison revealsthat the above-mentioned methods can be used interchangeably.
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