Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever.

Objective: Familial Mediterranean fever (FMF) is an autosomal recessive disease with diverse clinical presentation. The FMF gene (MEFV) has recently been cloned and 30 point mutations causing the disease have been identified. We appraised the value of mutation analysis as a diagnostic test for FMF in symptomatic pediatric patients, and explored the possible correlations between MEFV genotypes and the diverse phenotypic expression of the disease.

Detrimental effects of cyclosporin A on long-term graft survival in familial Mediterranean fever renal allograft recipients: experience of two transplantation centers.

Background: Cyclosporin A has been associated with severe toxic side effects in patients with familial Mediterranean fever who underwent renal transplantation. Nevertheless, the impact on graft function and survival is not well documented.

Objective: To compare long-term graft function and survival, between CsA-based vs.

Abdominal CT findings in nephropathic amyloidosis of familial Mediterranean fever.

To evaluate the abdominal CT features of reactive amyloidosis, abdominal CT scans of 20 patients with amyloidosis of familial Mediterranean fever (FMF) were reviewed and compared with abdominal CT scans of 2 control groups: 22 patients with chronic renal failure (CRF) due to non-amyloidotic kidney diseases and 40 patients with normal kidney function. The kidney size of patients with amyloidosis of FMF were found to vary during the course of the disease from normal or slightly larger than normal at the proteinuric phase, to smaller than normal and comparable to kidney size in CRF, at the uremic stage. Compared to kidney disease of other causes, more patients with FMF-amyloidosis had dense kidneys with coarse parenchymal calcification and calcification in other abdominal organs.

Behçet's disease in Familial Mediterranean fever: characterization of the association between the two diseases.

Objectives: Familial Mediterranean fever (FMF) is a genetic disease, characterized by attacks of fever and painful manifestations. Several vasculitides are more common in FMF than in the general population. The aim of the study was to define and characterize the association between FMF and Behcet's disease (BD), a form of vasculitis not previously related to FMF.

Late-onset familial Mediterranean fever (FMF): a subset with distinct clinical, demographic, and molecular genetic characteristics.

To determine the prevalence and characterize demographic, clinical, and genetic features of familial Mediterranean fever (FMF) of late onset, all patients experiencing their first FMF attack at age 40 years or more were identified using the computerized registry of our FMF clinic, and then thoroughly interviewed and examined. The control group consisted of 40 consecutive FMF patients, who arrived at the FMF clinic for their regular follow-up visit and were 40 years of age or older at the time of the examination. The severity of the disease in patients and controls was determined using a modified score, developed previously.

Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome.

We report 28 patients (20 male) with a syndrome characterized by abrupt onset of fever, malaise, aphthous stomatitis, tonsillitis, pharyngitis, and cervical adenopathy (PFAPA syndrome). Episodes of fever occurred at intervals of 5.1 +/- 1.

Activation of the cytokine network in familial Mediterranean fever.

Objective: To elucidate the role of cytokines in the pathogenesis of familial Mediterranean fever (FMF), an inherited disease characterized by attacks of serosal membrane inflammation.

Methods: Blood samples were obtained from patients with FMF during attacks and remission. The cytokine concentrations in plasma and in supernatants from whole blood stimulated by bacterial lipopolysaccharide (LPS) were determined.

Attacks of pericarditis as a manifestation of familial Mediterranean fever (FMF).

Familial Mediterranean fever (FMF) is characterized by recurrent attacks of febrile serositis. While arthritis, pleuritis and peritonitis are common in FMF, no association of pericarditis with FMF has been described in detail. We retrospectively studied about 4000 FMF patients, using a computer chart review.

Seronegative spondyloarthropathy in familial Mediterranean fever.

To define a possible association between familial Mediterranean fever (FMF) and seronegative spondyloarthropathy (SNSA) and to study features of SNSA in FMF patients, we screened for the presence and manifestations of SNSA in 3,000 FMF patients attending the National Center for FMF in our institution. This population included 160 patients with chronic arthritis, most who suffered from SNSA. Patients were considered to suffer from SNSA if they had chronic arthritis, inflammatory back/neck pain, and sacroiliitis.

Criteria for the diagnosis of familial Mediterranean fever.

Objective: To establish a new set of criteria for the diagnosis of familial Mediterranean fever (FMF).

Methods: Twenty-seven features and manifestations typical of FMF were studied to determine their prevalence in 105 patients with FMF and 106 controls. Diagnosis of FMF in the study group was based on clinical judgment.

Chronic colchicine treatment does not impair glucose tolerance in familial Mediterranean fever patients.

Objective: To investigate a long-term colchicine treatment in inhibiting normal release of insulin, in response to a glucose load.

Setting: The Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer.

Patients: Thirty-one familial Mediterranean fever (FMF) patients, treated continuously with colchicine (1.

The changing face of familial Mediterranean fever.

Familial Mediterranean fever (FMF) is a genetic disease characterized by painful febrile "attacks" of serositis and the development of amyloidosis. Although FMF has been extensively studied and described, new data have accumulated during the last decade. This report gives an update, focusing specifically on (1) newly characterized manifestations, such as acute scrotal "attacks," protracted febrile myalgia, and spondyloarthropathy; (2) progress made in the diagnosis and treatment of FMF-amyloidosis; (3) experience acquired with colchicine, establishing its safety in common practice, childhood, conception, and pregnancy; (4) colchicine's role in the prevention and treatment of FMF-amyloidosis; (5) new laboratory findings; and (6) new considerations in the differential diagnosis.

Induced TNF production in vitro as a test for familial Mediterranean fever.

We have previously demonstrated an altered pattern of tumor necrosis factor (TNF) secretion in patients with familial Mediterranean fever (FMF). To examine whether TNF determination could assist in diagnosing FMF, we stimulated heparinized blood of 51 asymptomatic FMF patients with lipopolysaccharide (LPS) and then measured TNF production in response to inducers, compared to unstimulated blood cells and to cells from a control group of 12 matched healthy subjects. Following LPS pretreatment, which induced TNF release, FMF patients produced significantly less TNF than controls, whether production was 'spontaneous' or induced by either LPS or phytohaemagglutinin (p < or = 0.

Colchicine enhances intestinal permeability in patients with familial Mediterranean fever.

Objective: Colchicine therapy is complicated by frequent gastrointestinal adverse effects.

Methods: We compared intestinal permeability in 21 patients with familial Mediterranean fever on long-standing colchicine therapy (mean 5.8 years) and significant gastrointestinal complaints and 12 untreated patients and 14 healthy volunteers.

Colchicine-induced lactose malabsorption in patients with familial Mediterranean fever.

Abdominal pain and diarrhea are frequent side effects of chronic colchicine therapy. Drug-induced lactose deficiency has been demonstrated in the experimental animal. Lactose malabsorption was assessed by the lactose breath test in 23 patients with familial Mediterranean fever (FMF) receiving colchicine for 0.

Dominant inheritance in two families with familial Mediterranean fever (FMF).

Familial Mediterranean fever (FMF) is an autosomal-recessive disease which affects almost exclusively people of Mediterranean and Middle Eastern origin. We examined the possibility of a dominant inheritance of FMF among our 3,000 patients in Israel. Two hundred forty FMF patients were members of 77 families in which the disease affected more than one generation.

Colchicine induces enhanced intestinal permeability in the rat.

Intestinal permeability was determined in rats receiving colchicine 0.5 +/- 0.15 mg day-1 in drinking water (30 mg L-1) for periods up to 23 days.

Colchicine treatment of AA amyloidosis of familial Mediterranean fever. An analysis of factors affecting outcome.

Objective: To elucidate factors possibly influencing the outcome of colchicine therapy in patients with amyloidosis of familial Mediterranean fever (FMF).

Methods: Retrospective analysis of data abstracted from the charts of all 68 FMF patients with amyloidosis who presented during the study period (1974-1992) with proteinuria (> or = 0.5 gm/24 hours) and creatinine values < or = 2.

Protracted febrile myalgia in patients with familial Mediterranean fever.

Objective: We describe a newly defined syndrome of protracted febrile myalgia in patients with familial Mediterranean fever (FMF).

Methods: Fourteen patients with FMF were admitted with an attack of severe disabling myalgia accompanied by fever, high erythrocyte sedimentation rate, and hyperglobulinemia, lasting up to 6 weeks.

Results: Unlike in the classical manifestations of FMF response to corticosteroids therapy was prompt.

Acute scrotal pain complicating familial Mediterranean fever in children.

Twenty-nine children with familial Mediterranean fever presented with 39 attacks of acute scrotal pain. Of these, 25 patients had an acute scrotum complicating familial Mediterranean fever and only four had testicular torsion. Scrotal pain was the only manifestation of a familial Mediterranean fever crisis in 36 episodes and in 15 boys scrotal involvement was the first manifestation of the condition.

Recurrent episodes of acute scrotum with ischemic testicular necrosis in a patient with familial Mediterranean fever.

The tunica vaginalis is 1 of the sites involved in the recurrent febrile attacks of serositis, which are the hallmark of familial Mediterranean fever. The attacks present clinically as "orchitis." We report on a patient with familial Mediterranean fever in whom recurrent episodes of scrotal attacks were complicated by testicular necrosis requiring orchiectomy.