Familial Mediterranean Fever is one of the most frequent recessive disease in non-Ashkenazi Jews. The gene responsible for the disease (MEFV) has very recently been identified. The M694V ('MED') mutation was found in about 80% of the FMF Jewish (Iraqi and North African) chromosomes. To see if the presence of this mutation could be correlated with particular traits of the disease, we examined a number of clinical features in a panel of 109 Jewish FMF patients with 0, 1 or 2 MED mutations. We showed that homozygosity for this mutation was significantly associated with a more severe form of the disease. In homozygous patients, the disease started earlier (mean age 6.4 + /-5 vs 13.6 + /-8.9) and both arthritis and pleuritis were twice as frequent as in patients with one or no M694V mutation. Moreover, 3/3 patients with amyloidosis displayed two MED mutations. No association was found with fever, peritonitis, response to colchicine and erysipeloid eruption. The present result strongly suggests the potential prognostic value of the presence of this mutation.
According to the 1996 consensus definition, orthostatic hypotension (OH) is diagnosed when a fall in systolic blood pressure of at least 20 mm Hg and/or diastolic blood pressure of at least 10 mm Hg within 3 min of standing is recorded. The elements of orthostatic blood pressure drop that are relevant to the definition of OH include magnitude of the drop, time to reach the blood pressure difference defined as OH, and reproducibility of the orthostatic blood pressure drop. In each of these elements, there exist issues that argue for modification of the presently accepted criteria of OH. Additional questions need to be addressed. Should one standard orthostatic test be applied to different patient populations or should tests be tailored to the patients' clinical circumstances? Are different OH thresholds relevant to various clinical settings, aetiologies of OH and comorbidity? Which test has the best predictive power of morbidity and mortality?
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