No association between genetic hemochromatosis and alpha1-antitrypsin deficiency.

Genetic hemochromatosis and alpha1-antitrypsin (AAT) deficiency are frequent in white populations. Conflicting data on the association of the two conditions and on the severity of the disease in those in whom these disorders coexist have emerged from analyses of small numbers of patients. To determine if the frequency of AAT deficiency is increased in genetic hemochromatosis, we characterized this protein by isoelectric focusing and DNA analysis in 115 Italian patients with the disease and 290 controls. The frequency of AAT deficiency in patients with genetic hemochromatosis was similar to that in controls (10% and 9%, respectively). The prevalence of cirrhosis in patients with genetic hemochromatosis with MM phenotype was 53%, compared with 58% in those with non-MM phenotype; that of hepatocellular carcinoma, occurring only in cirrhotic patients, was 22% and 28%, respectively. In conclusion, the frequency of AAT deficiency was not increased in our large series of Italian patients with genetic hemochromatosis. Patients in whom the two defects coexisted did not appear to have a more severe disease, but the limited number of subjects with non-MM phenotype does not allow a conclusive evaluation of clinical differences between them and patients with genetic hemochromatosis with MM phenotype.

Lack of association between porphyria cutanea tarda and alpha 1-antitrypsin deficiency.

OBJECTIVE: To determine whether alpha 1-antitrypsin deficiency is involved in the pathogenesis of chronic liver disease in patients with porphyria cutanea tarda and in their recently described high prevalence of hepatitis C virus infection. DESIGN: Consecutive patients diagnosed as having porphyria cutanea tarda and chronic liver disease. SETTING: A northern Italian hospital. METHODS: alpha 1-antitrypsin phenotypes were characterized by isoelectric focusing and the results confirmed by DNA analysis in 63 Italian patients with porphyria cutanea tarda. RESULTS: alpha 1-antitrypsin phenotypes different from the normal one were found in 13% of the patients. This prevalence did not differ from that in control subjects (9%). Clinical characteristics of patients with porphyria cutanea tarda with normal or altered alpha 1-antitrypsin phenotype, including age of presentation of the disease, prevalence of hepatitis C virus infection, liver histology, prevalence of iron overload and hepatocellular carcinoma occurrence, did not differ significantly. CONCLUSION: alpha 1-antitrypsin does not seem to play a role in the pathogenesis of chronic liver disease and hepatitis C virus infection in patients with porphyria cutanea tarda. Patients in whom the two defects coexist do not have a more severe disease.

[Reflex pressor response in young subjects with labile hypertension (author's transl)]. / Reattivita' pressoria riflessa in giovani con ipertensione labile.

A study on the pressor response to various tests of sympathetic stimulation has been performed in 36 young subjects, 9 with labile hypertension and 27 normotensive. All have been studied with "tilt test", "cold pressor test" and "mental arithmetic stress". In the labile hypertensive subjects the "tilt test" induced increases of the systolic and diastolic pressure significantly higher than in the normotensives. The "cold pressor test" produced an increase of the arterial pressure and of the heart rate significantly lower in the labile hypertensive than in the normotensive. The pressure responses and the changes of the heart rate produced by the "mental arithmetic stress" did not show significant differences in the two groups of patients studied. The results are discussed.