Israel Medical Association Journal

Tumor necrosis factor-associated fever syndrome is an autosomal dominant disorder caused by mutations of the TNFRSF 1A gene encoding the 55 kD TNF receptor (p55 TNF-RI).

Background: In developed countries, the incidence of Sydenham’s chorea, a major sign of rheumatic fever has declined, but outbreaks are still encountered worldwide.

Objectives: To report the characteristics of a cohort of SC[1] patients in the Jerusalem area.

Methods: We conducted a prospective assessment of rheumatic fever and SC between 1985 and 2002. The diagnosis of rheumatic fever was based on the revised Jones criteria. Other etiologies of chorea were excluded. Recurrence was defined as the development of new signs, lasting more than 24 hours and separated by a minimum of 2 months from the previous episode. Patients were followed for 1 to 14 years following the initial SC episode, and at least one year after recurrence.

Results: Among 180 children with rheumatic fever, 24 had SC. Most of them came from large families of Ashkenazi origin. In 19 patients (79%) the chorea was associated with other rheumatic fever signs, while 5 had pure chorea. Due to the systematic use of two-dimensional color Doppler echocardiography, cardiac involvement was detected in 75% of the patients. Ten patients (42%, 7 females) developed 11 recurrent episodes of chorea 3 months to 10 years after the initial episode. At recurrence, chorea was the sole rheumatic sign in all nine patients who recurred once. None of the patients had persistent chorea.

Conclusions: SC is still prevalent in the pediatric population of Jerusalem, and may recur years later. Recognition of the disease and adequate treatment is necessary.

Background: Gallium scintigraphy is frequently used in the evaluation of fever of unknown origin, although its utility has been addressed in only a few studies.

Objectives: To evaluate the utility of gallium scintigraphy in the evaluation of patients with FUO[1] in our department.

Methods: We reviewed the charts of all patients from our department who had undergone gallium scintigraphy during the years 1995–2002 for the evaluation of FUO and who met the criteria for the definition of FUO. Demographic, clinical and laboratory data in addition to the results of gallium scintigraphy were documented. The patients were divided into two groups: those with a normal gallium study (group 1) and those with an abnormal gallium study (group 2). The second group was further divided into two groups: those whose gallium study results contributed to the diagnosis of the cause of FUO (group 2A) and those whose gallium study results did not (group 2B).

Results: A total of 102 patients met the study criteria. The male: female ratio was 54:48 and the mean age ± SD was 62.4 ± 20 years. A final diagnosis had been reached in 63 patients (62%), among whom the etiology was infectious in 54%, neoplastic in 19% and immunologic/rheumatic in 16%. Forty-one patients (40% of all the patients) (Group 2) had an abnormal gallium scintigraphy, and in only 21 patients (21% of all the patients) (Group 2A) did the gallium study results contribute to the diagnosis of the cause of FUO. However, in only two patients from Group 2A (2% of all the patients in our study) was the contribution of gallium study considered significant or crucial to the diagnosis of the cause of FUO.

Conclusions: The utility of gallium scintigraphy in the evaluation of FUO is very limited.

Background: Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent attacks of fever and serositis. The disease is caused by mutations in the MEFV gene, presumed to act as a down-regulator of inflammation within the polymorphonuclear cells.

Objectives: To present the results of 412 FMF patients genotyped for three MEFV mutations, M694V, V726A and E148Q.

Results: The most frequent mutation, M694V, was detected in 47% of the carrier chromosomes. This mutation, especially common among North African Jewish FMF[1] patients, was not found in any of the Ashkenazi (East European origin) patients. Overall, one of the three mutations was detected in 70% of the carrier chromosomes. M694V/M694V was the most common genotype (27%), followed by M694V/V726A (16%). The full genotype could be assessed in 57% of the patients, and one disease-causing mutation in an additional 26%. Only one patient with the E148Q/E148Q genotype was detected despite a high carrier rate for this mutation in the Jewish population, a finding consistent with a low penetrance of this genotype. The M694V/M694V genotype was observed in 15 patients with amyloidosis compared to 4 amyloidosis patients with other genotypes (P < 0.0001).

Conclusions: Because of low penetrance and as yet other undetermined reasons, mutation analysis of the most common MEFV mutations supports a clinical diagnosis in only about 60% of patients with definite FMF.

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