1/36. familial mediterranean fever.familial mediterranean fever (FMF) is an inherited multisystem disease manifested by painful, febrile attacks affecting the chest, abdomen, joints, and skin. No simple studies confirm the presence of FMF, contributing to the difficulty in diagnosis. A 10-year-old boy initially presented with a diffuse rash and complaints of bilateral joint pain of the hips, knees, and ankles and pain of the right shoulder. The child responded to daily naproxen. One year later, he continued to complain of hip, knee, ankle, and bilateral wrist pain. He also reported mild to moderate recurrent abdominal discomfort. omeprazole provided intermittent relief. The patient continued to experience episodes of joint and abdominal pain. Two and a half years after he first presented, FMF was considered. In the second case, a 51-year-old man presented to the emergency department with complaints of fever, cough, and abdominal and joint pain. Fever, joint pain, and swelling decreased during the next few days. The patient was maintained on colchicine, with complete resolution of joint pain complaints during the next few days. colchicine, 1 to 2 mg per day taken continuously during flare and quiescent periods, is the treatment of choice for FMF. colchicine reduced the severity and frequency of attacks and may also delay or prevent secondary amyloidosis.- - - - - - - - - - ranking = 1keywords = multisystem (Clic here for more details about this article) |
2/36. Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid communication.BACKGROUND: The recent identification of genes responsible for syndromes of periodic fever with amyloidosis has opened the way to a molecular diagnosis of hereditary AA amyloidosis. methods: A Belgian woman presented for genetic counseling. Three first-degree relatives had a diagnosis of renal amyloidosis with a history of recurrent fever and inflammatory episodes. medical records and pathological specimens were obtained from all physicians who had been in charge of her three relatives. Immunohistochemical staining was performed on paraffin-embedded material. A mutation search was performed in the MEFV (Mediterranean fever) and tumor necrosis factor receptor 1 (TNFR1 or TNFRSF1A) genes causing familial mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively. RESULTS: The family history was consistent with autosomal-dominant transmission of periodic fever with arthralgias, abdominal pain, and eventual AA amyloidosis involving the kidneys, digestive tract, and thyroid. Recurrent amyloidosis in kidney graft was demonstrated in one patient and was suspected in the other. A novel heterozygous mutation (C55S) in TNFRSF1A was identified in the affected patient available for genetic testing but not in the asymptomatic woman requiring counseling. No mutation was detected in MEFV. CONCLUSIONS: We report a novel mutation (C55S) in TNFRSF1A, resulting in autosomal-dominant periodic fever and AA amyloidosis. This condition, known as TRAPS, should be added to the differential diagnosis of hereditary renal amyloidosis, with obvious implications for management and genetic counseling.- - - - - - - - - - ranking = 3057.4730787357keywords = periodic syndrome (Clic here for more details about this article) |
3/36. Genetic analysis as a valuable key to diagnosis and treatment of periodic Fever.We describe 2 Dutch patients with recurrent fever attacks undiagnosed for more than 40 years. The diagnosis of periodic fever was made when molecular analysis revealed novel mutations in the tumor necrosis factor (TNF) receptor gene (TNFRSF1A), establishing the diagnosis of TNF receptor-associated periodic syndrome. This syndrome is an autosomal dominant disorder characterized by recurring episodes of fever, arthralgia, and skin lesions that is caused by mutations in the 55-kd TNFRSF1A gene. This finding has facilitated treatment for TNF receptor-associated periodic syndrome because blocking of TNF signaling seems to alleviate the symptoms. Use of a short course of recombinant p75TNFR:Fc fusion protein (etanercept) induced prolonged remission in one patient.- - - - - - - - - - ranking = 6114.9461574714keywords = periodic syndrome (Clic here for more details about this article) |
4/36. Periodic fever (TRAPS) caused by mutations in the TNFalpha receptor 1 (TNFRSF1A) gene of three German patients.TNF-receptor-associated periodic syndrome (TRAPS) is a recently recognized disorder characterized by prolonged attacks of high fever and severe localized inflammation. TRAPS is caused by dominant mutations in the 55 kDa TNF receptor gene (TNFRSF1A). We here describe three German TRAPS patients of two families with Cys30-->Arg and Thr50-->Met mutations, respectively. Both mutations have already been observed before in other nonrelated families. The Thr50-->Met amino acid exchange, caused by an ACG-->ATG transition, has been reported in two other families of different ethnic background. The possibility that the ACG-->ATG sequence alteration is a mutational hot spot causing TRAPS is discussed. Furthermore, we describe and discuss the symptoms of our patients, possible inducers of febrile attacks, and treatments which the patients had received when their diagnoses were still unknown.- - - - - - - - - - ranking = 3057.4730787357keywords = periodic syndrome (Clic here for more details about this article) |
5/36. An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome.OBJECTIVE: To investigate genetic susceptibility to recurrent fevers, generalized severe myalgia, and migratory erythema in an Israeli Arab child with no family history of similar disease. methods: dna sequencing of exons 1-6 of the TNFRSF1A gene (formerly TNFR1) was performed in the patient and his parents to determine the presence of the autosomal-dominant tumor necrosis factor receptor-associated periodic syndrome (TRAPS); informative markers spanning the TNFRSF1A locus were used to genotype all available members of the patient's family. The TNFRSF1A gene was subsequently screened in 69 healthy Arab controls and 96 Caucasian controls. Formal forensic paternity testing was performed on the child. RESULTS: We found a de novo missense mutation in exon 3 of the TNFRSF1A gene, involving a novel C-->T transition encoding a Cys70Arg (C70R) variant, in the Israeli Arab patient. Eight of the common familial mediterranean fever (FMF) gene MEFV mutations were excluded. This mutation was not present in the parents or siblings, or among the 69 healthy Arab controls. However, another TNFRSF1A variant, Pro46Lys (P46L), was present in 1 of the Arab controls. CONCLUSION: We have identified a TNFRSF1A mutation associated with periodic fever in an Arab patient, and a TNFRSF1A variant, which is variably pathogenic in Caucasians, in an Arab control. This is the first report of a de novo mutation in periodic fevers in general, and also of TRAPS in the Arab population. These findings demonstrate the need to include TRAPS in the differential diagnosis of recurrent fevers in this population.- - - - - - - - - - ranking = 15287.365393679keywords = periodic syndrome (Clic here for more details about this article) |
6/36. Monocytic fasciitis: a newly recognized clinical feature of tumor necrosis factor receptor dysfunction.Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory syndrome that results from mutations in TNFRSF1A, the gene that encodes the 55-kd tumor necrosis factor receptor. Clinically, patients present with recurrent episodes of fever in conjunction with localized inflammation at various sites. myalgia is one of the most characteristic features of this syndrome and is frequently associated with an overlying erythematous, macular rash that, together with the myalgia, displays centrifugal migration. This has previously been believed to occur as a result of myositis. We describe herein the case of a 60-year-old man with TRAPS, in whom magnetic resonance imaging of the left thigh demonstrated edematous changes in the muscle compartments and surrounding soft tissues. A full-thickness wedge biopsy was performed, and hematoxylin and eosin staining and immunohistochemistry analysis of the specimen demonstrated normal myofibrils but a severely destructive monocytic fasciitis. These results suggest that the myalgia experienced by individuals with TRAPS is due to a monocytic fasciitis and not to myositis.- - - - - - - - - - ranking = 3829.2253766959keywords = periodic syndrome, autoinflammatory, autoinflammatory syndrome (Clic here for more details about this article) |
7/36. crohn disease in patients with familial mediterranean fever.crohn disease and familial mediterranean fever (FMF) are inflammatory diseases characterized by abdominal pain and fever. The concurrence of the 2 diseases (FMF-CD) may pose a challenge to diagnosis and treatment. We undertook the present study to determine the prevalence of crohn disease in FMF and to characterize FMF-CD patients clinically and genetically. Using a computerized search, the patients of our FMF clinic were screened for a concomitant diagnosis of crohn disease. patients and their medical records were thoroughly examined, and their dna was genotyped for mutations in the MEFV gene. control groups of ethnically and sex-matched patients suffering from each of the diseases alone, either crohn disease or FMF, were used for comparison. We identified 7 patients with concomitant crohn disease and FMF, which is more than the expected prevalence in the general population (p = 0.03). crohn disease presented at a significantly later age in the FMF-CD group (40.6 /- 10.0 yr versus 26.2 /- 11.4 yr; p < 0.004). Disease severity and other characteristics of crohn disease were comparable to the crohn disease control group. Contrary to the FMF control group patients, FMF in FMF-CD patients was characterized by a higher attack frequency (p < 0.05) and increased prevalence of amyloidosis (p < 0.02). The overall severity score was similar in both groups. In conclusion, crohn disease appears to be more prevalent in FMF and presents later than in patients without FMF. FMF in this group of patients shows a higher attack frequency and is more often complicated by amyloidosis.- - - - - - - - - - ranking = 14.81220020259keywords = inflammatory disease (Clic here for more details about this article) |
8/36. A new mutation causing autosomal dominant periodic fever syndrome in a Danish family.We describe four members in a family of 8 individuals over 3 generations with the autosomal dominant inherited periodic fever syndrome tumor necrosis factor receptor-associated periodic syndrome (TRAPS). The patients had recurrent episodes of fever, abdominal pain, arthritis, and rash. We examined the gene coding for the tumor necrosis factor receptor TNFRSF1A in all first-degree family members. In all 4 symptomatic members of the family, a hitherto undescribed mutation C98Y (380G-->A) in the TNFRSF1A gene was identified. In contrast, this mutation was not found in the 4 family members reported to be healthy nor in 50 normal control patients. The youngest member of the family, a 2-year-old boy, was treated successfully with etanercept.- - - - - - - - - - ranking = 3057.4730787357keywords = periodic syndrome (Clic here for more details about this article) |
9/36. Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients.OBJECTIVE: To assess the effects prospectively of tumour necrosis factor (TNF) receptor superfamily (TNFRSF) fusion proteins TNFRSF1B (etanercept) and TNFRSF1A (p55TNFr-Ig) in patients with TNF receptor associated periodic syndrome (TRAPS). methods: Seven patients with a clinical and genetic diagnosis of TRAPS received subcutaneous etanercept for 24 weeks. One of these patients had previously received an intravenous infusion of p55TNFr-Ig. Therapeutic response was assessed by comparing corticosteroid requirement, acute-phase response and an established scoring system over 20 weeks, both on and off etanercept. RESULTS: Etanercept was well tolerated. The five corticosteroid-responsive patients required significantly less corticosteroids and demonstrated reductions in acute-phase reactants on etanercept. The two patients not requiring corticosteroids had small reductions in disease activity scores. The effect of p55TNFr-Ig in a single patient with TRAPS remains unclear. CONCLUSIONS: Etanercept does not abolish inflammatory attacks but improves disease activity allowing corticosteroid reduction. Etanercept may be clinically useful in replacing or reducing steroid requirements in the treatment of TRAPS. A formal trial of etanercept to establish its role in clinical management is indicated.- - - - - - - - - - ranking = 15287.365393679keywords = periodic syndrome (Clic here for more details about this article) |
10/36. familial mediterranean fever presenting as recurrent acute pelvic inflammatory disease.BACKGROUND: Recurrent acute episodes of pelvic inflammatory disease (PID) often present a diagnostic dilemma. The differential diagnosis should include reinfection, appendicitis, endometriosis, irritable bowel syndrome, colitis, persistent ovarian cyst, and antibiotic-resistant bacterial strains. CASE: NA young Palestinian woman presented with recurrent episodes of pelvic pain with rebound tenderness, fever, and elevated white blood cell count, erythrocyte sedimentation rate, and c-reactive protein. The patient underwent extensive workup, multiple courses of intravenous and oral antibiotics, and diagnostic laparoscopies, with continued recurrent episodes. Treatment with colchicine for suspected familial mediterranean fever resulted in resolution of symptoms. CONCLUSION: In patients of Mediterranean ancestry who have symptoms of recurrent PID that are refractory to conventional treatment, familial mediterranean fever should be included in the differential diagnosis.- - - - - - - - - - ranking = 74.061001012952keywords = inflammatory disease (Clic here for more details about this article) |
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