Unusual manifestations of hereditary angioedema.

Hereditary angioedema is a hereditary disorder transmitted as an autosomal dominant trait, characterized by reduced plasma concentration of C1 esterase inhibitor (type 1) or the presence of non functional C1 esterase inhibitor (type 2). We describe and discuss the case of a 35-year-old man who presented two unusual clinical manifestations of type 2 hereditary angioedema causing diverse emergency situations: acute abdomen and parasellar oedema.

Evaluation of cardiovascular parameters by continuous 24 hour monitoring in diabetic hypertensive patients with autonomic neuropathies.

Correlations between scores of autonomic neuropathy severity in diabetic hypertensive subjects and behaviour of cardiovascular parameters detected by continuous 24 hour monitoring were investigated in order to reveal any alterations hat indicated onset and progression of disautonomy. R-R and Q-T patterns, circadian pressure rhythm and ECG Holter over 24 hours were analysed in 30 patients divided into various groups (age, duration of disease, treatment) and 10 controls. Three autonomic tests (deep breathing, postural hypotension, lying to standing) were performed and the relative Ewing scores recorded. Data obtained were analysed using Pearson's correlation test and simple linear regression. The results not only confirm circadian rhythm demodulation of arterial pressure, but also show progressive correlation between the scores obtained and modified cardiovascular parameters. According to the authors, detection of these intermediate alterations may be useful in forecasting possible onset or evolution of dysautonomic pathologies.

[Deficit of anticoagulant factors, endothelial stress and thrombophilia]. / Deficit di fattori anticoagulanti, stress endoteliale e trombofilia.

Thrombophilia is characterised by elevated thrombotic and embolic risk and may be caused by congenital or acquired coagulating inhibitor deficit. A young man was repeatedly admitted to Emergency Medicine Units because of pain, oedema and slight functional impairment of the left leg, and recurrent thrombophlebitis was diagnosed. During the most recent hospitalization, vena cava thrombosis was diagnosed and therapeutic management consisted of application of a caval filter and administration of dicoumarin anticoagulants. This case can be classified as a hereditary protein S deficiency with APC-resistance. However, non-strenuous, protracted and repeated physical trauma may have acted synergically with the congenital coagulation inhibitor deficiency, determining the thrombotic episodes, which are probably provoked by transient and functional alterations of the non-thrombogenic properties of the endothelium.

[Evaluation of genetic predisposition and acquired risk factors in development of essential hypertension and its acute complications]. / Valutazione della predisposizione genetica e di fattori di rischio acquisiti nello sviluppo della ipertensione essenziale e di sue complicanze acute.

The authors studied a population of 4.023 subjects from several rural and urban communities selected on the basis of age, work tasks and social class. Genetic predisposition to essential hypertension was evaluated by determining intraerythrocyte sodium levels in all subjects with essential hypertension and their families. The authors also verified the behaviour of some biohumoral factors (PRA, aldosterone, ANP, intraerythrocyte, Na) as possible markers of essential hypertension and the role of some acquired risk factors in the development of the disease and its cerebrocardiovascular complications. The hypertense subjects were divided into groups and treated with diet alone or diet associated with drugs depending on the prevalence of pathogenetic factors. The results were evaluated after 1, 3, 6 and 12 months.

[Plasma lipids, insulin, C-peptide, and glucagon levels in cirrhosis: personal observations]. / Frazioni lipidiche plasmatiche, insulina, C-peptide e glucagone in gruppi di cirrotici: considerazioni su osservazioni personali.

The authors report preliminary data on the behavior of some lipid fractions in cirrhosis of the liver and correlate them with the changes in the insulin, glucagon and C-peptide levels. Elevated FFA (Free Fatty Acids) and normal cholesterol, triglyceride and total lipid values indicate a prevalent insulin induced effect and a reduction of liver metabolism of these fractions. This hypothesis is supported by the fact that L-carnitine, which reestablishes the carnitine-dependent intracellular transport system, reduces the levels of all the lipid fractions studied. The normal C-peptide values in these patients with liver cirrhosis show that hyperinsulinemia is caused by impaired metabolism of this hormone and not by hyperincretion. This hyperinsulinemia seems to react positively to the improvement of the intracellular transport systems. A fall in the hyperglucagonemia follows the decreased hyperinsulinemia leading to a hormone balance with lower values and a consequent reduction of the hormonal stimuli on the lipid metabolism. The possibility of administering drugs, which can act on the metabolic pathways responsible for the high FFA plasma levels, which seem to play a role in the physiopathology of encephalopathies and hepatic coma is clinically interesting.

A study of cupremia in a group of elderly diabetics.

In diabetics, even in those without complications and/or alterations of lipid metabolism, higher levels of cupremia were found than in the controls; these increased levels were not correlated with the duration of the disease and the cupremia was more evident in the older patients and in those with complications. However, the increases were not dissimilar from those found in non-diabetic arteriosclerosis. Our findings favor the hypothesis that after some years and by affecting fatty acid metabolism, higher levels of cupremia enhance the appearance of diabetic vasculopathy.