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1/40. reflex sympathetic dystrophy arising in a patient with familial mediterranean fever.

    A 14-year-old girl with familial mediterranean fever (FMF) had had acute attacks of fever, abdominal pain, and arthritis for 4 years. Her last arthritis attack was protracted, leading to reflex sympathetic dystrophy (RSD) in her right lower extremity. Physical therapy along with sympathetic ganglion block and corticosteroid therapy was used for the treatment. To our knowledge, this is the first reported case of RSD arising in a patient with FMF. Early recognition of RSD in FMF patients is important, and physical therapy should be applied along with medical treatment.
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2/40. 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.
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3/40. Progressive bouts of acute abdomen: pet the peritoneum.

    The recent discovery of the mutated gene responsible for familial mediterranean fever (FMF) is supposed to facilitate its diagnosis which up till now is a clinical one because there are no specific laboratory tests. The sensitivity of genetic testing is limited because these tests search only for known mutations. In this case report we describe a patient with periodic abdominal pain in whom the diagnosis of FMF was wrongly discarded because of lack of a durable effect of colchicine and negative genetic testing. Diffuse peritoneal inflammation was nicely demonstrated by a FDG-PET (fluoro-deoxy-glucose positron-emission tomography) performed during a typical crisis. We discuss the possible diagnostic pitfalls and conclude that a crisis-PET might upgrade the level of diagnostic certainty in equivocal cases.
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4/40. 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.
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5/40. familial mediterranean fever in a Taiwanese patient.

    familial mediterranean fever is a rare disease characterized by cyclic attacks of fever, serositis and strong family background. Here we report a 22-year-old man who suffered from recurrent fever accompanied by chest and abdominal pain for more than 10 years. The attack frequency was about once per 2-3 weeks. Although he consulted many clinics and even received appendectomy at the age of 15, no definite diagnosis was given. During the admission, many laboratory examinations failed to show any abnormality except mild leukocytosis and elevated C-reaction protein. Image studies including chest X ray and abdominal CT scan showed negative result but, interestingly, gallium-67 scan showed a hot spot in right lower chest and right lower abdomen. After prophylaxis with colchicine 1.0 mg per day, he has enjoyed more than 2 years without the above symptoms.
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6/40. Recurrent urticaria as a rare manifestation of familial mediterranean fever.

    familial mediterranean fever (FMF) is a genetic disorder characterized by acute episodes of fever with some combination of severe abdominal pain, pleurisy, arthritis, and skin rash. The case of a patient with recurrent urticaria referred for study of drug allergy is presented. After allergy had been ruled out, the urticaria was attributed to previously undiagnosed symptoms of an underlying systemic disease: FME. urticaria is the least frequent cutaneous manifestation of this disease, and genetic analysis was required to confirm the diagnosis.
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7/40. Allogeneic bone marrow transplantation: cure for familial mediterranean fever.

    We describe data on a 7-year-old girl with congenital dyserythropoietic anemia (CDA), who also had familial mediterranean fever (FMF). Repeated transfusions required since the age of 6 months to treat her CDA led to iron overload and a persistently high ferritin level. Her relapsing FMF made effective iron chelation therapy very difficult. Consequently, at the age of 4 years, she underwent allogeneic, sibling bone marrow transplantation (BMT). During conditioning for her BMT, symptoms of FMF, including splenomegaly, arthritis, and recurrent abdominal pain, began to resolve and she was gradually weaned off colchicine. Now, 2 years after the transplantation, she remains free from FMF symptomatology and is off all immunosuppressants. This case demonstrates that symptoms of FMF can be alleviated by the therapy used during allogeneic BMT. In this patient it is likely that the missing factor in FMF is now being provided by granulocytes derived from the stem cells within transplanted bone marrow.
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8/40. 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.
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9/40. 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.
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10/40. 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.
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