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Results for “Familial Mediterranean Fever”

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At least 19 recordsLinked to original sources
PubMed2006

Febrile myalgia syndrome in familial Mediterranean fever.

Familial Mediterranean fever is characterized by recurrent polyserositis episodes associated with fever. However, the clinical spectrum of this disease has been expanded recently and myalgia is now a frequently recognized component. Protracted febrile myalgia syndrome was first described in patients with familial Mediterranean fever in 1994. This syndrome is characterized by severe paralyzing myalgia, high fever, abdominal pain, diarrhea, arthritis/arthralgia, and transient vasculitic rashes mimicking Henoch-Schonlein purpura. Recently, we evaluated 6 patients with the clinical picture of protracted febrile myalgia syndrome in our clinic. One of them was a patient with known familial Mediterranean fever, but the others were subsequently diagnosed to have familial Mediterranean fever by mutational analyses. Thus, introduction of genetic analysis would possibly change the diagnostic criteria for familial Mediterranean fever. In addition, all 6 patients presented in the spring months when streptococcal infections are at their peak rate and 3 of them had elevated ASO levels indicating that streptococci could be one of the agents triggering protracted febrile myalgia syndrome.

Child↗
PubMed1994

Serum concentration and urinary excretion of beta 2-microglobulin and microalbuminuria in familial Mediterranean fever.

Familial Mediterranean fever is characterised by recurrent and self limited attacks of fever and polyserositis and its devastating complication is the development of renal amyloidosis. In order to detect the presence of early glomerular and tubular damage in patients with familial Mediterranean fever and to assess the possible role of beta 2-microglobulin in the inflammatory attacks of this disease, serum and urine beta 2-microglobulin concentrations and microalbuminuria were evaluated in these patients. A total of 20 patients with familial Mediterranean fever were studied on and off colchicine treatment; seven of these patients developed a familial Mediterranean fever attack when they were off treatment. During the familial Mediterranean fever attacks serum beta 2-microglobulin concentrations decreased, whereas fractional excretion of beta 2-microglobulin, urine beta 2-microglobulin creatinine, and urine albumin/creatinine ratios increased. We conclude that glomerular and tubular functions deteriorate during the attacks. Further studies are needed to discover the effector(s) causing these transient glomerular and tubular disorders.

Adolescent↗
PubMed2005

IgA nephropathy in an Italian child with familial Mediterranean fever.

Familial Mediterranean fever is an autosomal recessive disorder characterized by transient attacks of fever and polyserositis with substantial risk of developing amyloidotic nephropathy over time. We report an Italian child with familial Mediterranean fever presenting with hematuria during attacks in whom kidney biopsy documented the presence of mesangial IgA deposits and the absence of amyloidosis. Kidney biopsy should be performed in patients showing microscopic or gross hematuria during attacks of familial Mediterranean fever in order to gain additional epidemiological data about specific features of renal involvement and to allow adequate treatment.

Child, Preschool↗
PubMed1988

Enhanced neutrophil chemiluminescence in familial Mediterranean fever.

Familial Mediterranean Fever is a disorder of unknown cause characterized by recurrent, self-limited paroxysms of serosal inflammation. Although the neutrophil is the predominant cell involved, no cellular abnormalities are known. Chemiluminescence was studied in neutrophils from 20 asymptomatic patients with this disease and 21 healthy controls to evaluate the oxidative response to formyl-methionyl-leucyl-phenylalanine (f-met-leu-phe). In a subset of patients with familial Mediterranean fever, neutrophils but not monocytes were shown to have significantly enhanced chemiluminescence compared to controls. The enhanced responsiveness of neutrophils to f-met-leu-phe in this disease was found to occur at a postreceptor level. Receptor binding assays demonstrated no differences in binding affinity and receptor number between patients and controls. In addition, a similar enhancement in chemiluminescence was observed with an alternative stimulus (zymosan). In contrast to chemiluminescence, chemotaxis induced by f-met-leu-phe was not enhanced in patients with familial Mediterranean fever. The enhanced neutrophil chemiluminescence may identify a subclinical inflammatory state in attack-free patients with familial Mediterranean fever, as enhanced chemiluminescence is also observed in chronic inflammatory diseases with active inflammation.

Chemotaxis, Leukocyte↗
PubMed1986

[Amyloidosis and familial Mediterranean fever].

Familial Mediterranean Fever (F. M. F.) is an autosomal recessive disorder occurring most commonly in Sepharadi Jews and Armenians. Two phenotypic features characterize the disease: brief episodic febrile attacks of peritonitis, pleuritis or synovitis recurring from childhood or adolescence and the development of systemic amyloidosis. Attacks are accompanied by striking elevations of acute phase proteins, including serum amyloid A protein. The amyloidosis of Familial Mediterranean Fever is of the AA type, and manifest clinically as a nephropathy that passes through proteinuria, nephrotic and uremic stages to renal death. Although there is ethnic variation in the incidence of amyloidosis of F. M. F. in our patient population--predominantly Sepharadi Jews of North African extraction--an amyloidotic death at an early age is their genetic destiny. Since the introduction in 1972 of colchicine to prevent the febrile attacks, the drug has been proven and become the main stay of therapy. Today, colchicine has been shown to be effective in preventing amyloidosis as well as the febrile attacks in Familial Mediterranean Fever. End stage renal disease is not the end of the road for patients with F.M.F. because of improving outlook for dialysis and renal transplantation in these patients.

Amyloidosis↗
PubMed1999

[Familial Mediterranean fever].

Familial Mediterranean fever is a hereditary disease prevalent among populations in the Mediterranean area, characterized by sporadic episodes of acute inflammation primarily of the pleural, peritoneal and joint spaces. There is no diagnostic test for routine use. The disease is still uncommon in Norway, but we expect an increased incidence because of immigration. Due to the lack of pathognomonic features many patients undergo unnecessary explorative laparotomy before the diagnosis is established. In this report we present a patient with a typical history of familial Mediterranean fever. To our knowledge this is the first case ever published in Norway. It is important to keep the disease in mind as a differential diagnosis in patients with recurrent fever and pain, as colchicine represent an efficient treatment in order to prevent both further attacks and secondary amyloidosis.

Adult↗
PubMed2001

Familial Mediterranean Fever.

Familial Mediterranean Fever is a genetic disorder frequently diagnosed among the Arabs. It is also prevalent among Jews, Armenians and Turks. The clinical picture consists of febrile and painful attacks that differ in quality across patients and even within the same patient. There may be accompanying joint pain, chest pain, skin manifestations and other findings, and amyloidosis may occur in some patients as a complication. The primary treatment is Colchicine, which decreases the frequency of the attacks and prevents the occurrence of amyloidosis. The gene responsible for Familial Mediterranean Fever, MEFV, has been mapped and cloned and mutations were identified within its coding sequence. It encodes a protein that is expected to be a down regulator of inflammation. The spectrum of mutations in the Arabic population is partially studied. There are still several issues to be solved before we fully understand the disorder, and to enable us to confront it and decrease the morbidity and mortality inflicted by it.

Cytoskeletal Proteins↗
PubMed1992

Twin studies in familial Mediterranean fever.

Familial Mediterranean fever (FMF) is a genetic disease characterized by recurrent short episodes of fever, accompanied by peritonitis, pleuritis, or arthritis. The disease is almost completely ethnically restricted to patients of Mediterranean descent--Sephardic Jews, Armenians, Anatolian Turks, and Arabs. Although many family studies have been performed, no twin study has been reported as yet. We studied 21 di- and monozygotic twin sets, identified among the 1,943 FMF patients in our registry. Full concordance was observed in all the 10 monozygotic twin sets. In the 11 dizygotic twins, concordance for FMF disease was found in only 3 pairs. Variability in the clinical manifestations and degree of severity have been noted within twins. These findings provide definitive evidence for the genetic cause of FMF. They also support the single gene autosomal recessive model, and provide support for the contention that the lower observed than expected incidence found in FMF is due to genetically affected but clinically undiagnosed patients.

Adolescent↗
PubMed2003

Seronegative spondyloarthropathy of familial Mediterranean fever.

Familial Mediterranean fever (FMF) is characterized by an autosomal inheritance pattern, Mediterranean ancestry, and history of recurrent fever. We present a 30-year-old Turkish man with FMF and accompanying seronegative spondyloarthropathy. His diagnose depended on the clinical course of his disease: recurrent fever accompanied by abdominal pain attacks together with a positive family history and his ethnic origin and sacroiliitis. We review the common manifestations of FMF and remind physicians that sacroiliac joint involvement must be kept in mind in presence of articular symptoms in a FMF patient.

Adult↗
PubMedDate not supplied

New interest in an old disease: familial Mediterranean fever.

Familial Mediterranean fever (FMF) is characterized by recurrent attacks of fever and serositis. Identifying the mutated gene has shed light on the pathogenesis of the disease. Typical attacks of FMF last 3 to 5 days. Arthritis is present in almost half of all patients and is localized to the ankle, knee or hip. Recently vasculitic features have been increasingly reported in FMF patients, and it may be speculated that vasculitis constitutes a feature of this disease. Genetic analysis is very important to confirm the diagnosis in patients with a European ancestry. However, at present the yield of genetic testing is not satisfactory; new sequencing techniques permitting more rapid screening and definition of all mutations are necessary. Colchicine is the drug of choice. A trial of colchicine may also help in the differential diagnosis with other periodic fever syndromes.

Colchicine↗
PubMed2004

Variable expression of vasculitis in siblings with familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent and self-limited attacks of serosal inflammation with abdominal pain, chest pain, and arthritis usually accompanied by fever. Different vasculitides such as polyarteritis nodosa (PAN) and Henoch-Schönlein syndrome (HSS) may be associated with FMF. We report two sisters of a Turkish family with FMF who developed distinct vasculitides. The younger sister developed severe PAN with perirenal hematoma at the age of 13 years, the older sister presented with severe HSS and acute renal failure at the age of 19 years. Neither sister developed amyloidosis until the age of 30 years. This observation suggests that early events in the pathogenesis of PAN and HSS are generally quite similar.

Adolescent↗
PubMed1993

Optic neuritis associated with familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an inherited disorder characterized by recurrent attacks of fever and polyserositis of unknown origin. Neuro-ophthalmologic involvement is rare. We describe a previously unreported association of FMF with optic neuritis in two patients.

Adult↗
PubMed2000

Severe and prolonged febrile myalgia in familial Mediterranean fever.

Familial Mediterranean fever (FMF) is characterized by recurrent attacks of fever and serositis. Typical attacks of FMF last 3 to 5 days. Fever and myalgia are not always improved by colchicine therapy and sometimes require steroid therapy. We present two cases of severe prolonged febrile myalgia where steroid therapy was needed.

Adolescent↗
PubMed2002

[Familial Mediterranean fever].

Familial mediterranean fever is a hereditary inflammatory disease, with autosomal recessive transmission, due to mutations in the MEFV gene. The MEFV gene, located on the short arm of chromosome 16, codes an anti-inflammatory protein, marenostrine or pyrin. The disease is characterised by paroxysmal bouts of fever with acute and painful serositis. Appearance of renal amyloidosis indicates severe prognosis. The disease appeared several thousands of years ago in an ancestor common to Sephardic Jews, Turks, Armenians and Arabs. The full clinical description, including renal complications and familial forms, was made by two French investigators and dates from the 1950s. That this description is relatively recent is due to the scarcity of medical treatment and the poor living conditions in the regions concerned, which also explains the occurrence of endemic diseases (in particular tuberculosis), the frequency of acute rheumatic fever, malaria and pyogenic infections. Prophylactic treatment by colchicine, suggested by Turkish authors and one American author, has been demonstrated to avoid not only inflammatory episodes but also the development of amyloidosis.

Amyloidosis↗
PubMed2000

The genetic basis of autosomal dominant familial Mediterranean fever.

Familial Mediterranean fever (FMF) is classically an autosomal recessive periodic inflammatory disease occurring in Mediterranean and Middle Eastern populations. It is caused by mutations affecting both alleles of MEFV, a gene that encodes pyrin (marenostrin), an uncharacterized neutrophil protein. Occasional reports of autosomal dominant FMF have often been discounted, on the basis that asymptomatic FMF carriers are common in certain populations, and give rise to pseudo-dominant inheritance. We performed comprehensive MEFV genotyping in five families in whom FMF appeared to be inherited dominantly. Transmission proved to be pseudo-dominant in two cases, but true dominant inheritance of FMF with variable penetrance was supported by the genotyping results in the other three families. The disease in these cases was associated with heterozygosity for either pyrin DeltaM694 alone or the compound pyrin variant E148Q/M694I, the latter occurring in two unrelated families. Complete MEFV sequencing failed to identify any coding region abnormality in the other allele in any of these cases, and, in the largest kindred, single-allele disease transmission was further supported by analysis of silent single nucleotide polymorphisms, which proved that affected individuals had at least three different complementary alleles. Studies of two further unrelated British patients with FMF associated with simple heterozygosity for pyrin DeltaM694 were also consistent with autosomal dominant inheritance. The clinical features of dominantly inherited FMF were absolutely typical, including AA amyloidosis in a patient with pyrin DeltaM694. These findings extend the spectrum of FMF, and suggest that the methionine residue at position 694 makes a crucial contribution to pyrin's function, and that a 50% complement of normal pyrin activity does not prevent susceptibility to FMF.

Amyloidosis↗
PubMed2006

Spinal cord stimulation for relief of abdominal pain in two patients with familial Mediterranean fever.

Familial Mediterranean fever is a hereditary disease characterized by recurrent attacks of fever and serosal inflammation that commonly presents as severe abdominal pain. Though colchicine remains the mainstay of treatment, a significant proportion of patients are partially responsive, unresponsive or intolerant to it. We present two such cases where spinal cord stimulation (SCS) was used to manage the paroxysmal abdominal pain associated with this disease. Abdominal visceral pain pathways and the application of SCS techniques in its management are discussed.

Abdominal Pain↗