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benign paroxysmal peritonitis [keywords]
- Gout exacerbation, weakness, hypotension--Dx? [JOURNAL ARTICLE]
- J Fam Pract 2014 Aug; 63(8):455-456.
Colchicine is a potent anti-inflammatory drug that has a narrow therapeutic index. Indicated for treating gout and familial Mediterranean fever, it inhibits mitosis by interfering with microtubule formation and arresting cell division.
- [Anakinra in a case of fever familial Mediterranean]. [Journal Article]
- Farm Hosp 2014 Sep-Oct; 38(5):446-7.
- Amyloid goiter due to familial mediterranean Fever in a patient with byler syndrome: a case report. [Journal Article]
- Balkan Med J 2014 Sep; 31(3):261-3.
Familial Mediterranean Fever (FMF), also inherited with autosomal recessive trait, is characterized by recurrent episodes of fever, arthritis, and serositis. Congenital Byler Syndrome (Progressive Familial Intrahepatic Cholestasis) inherited with autosomal recessive trait and characterized by defective secretion of bile acids. FMF associated Amyloid A deposition occurs in many tissues and organs, but amyloid goiter is a rare entity that leads to enlargement and dysfunction of the thyroid.We present a rare case of 24 year old male patient who had liver and kidney transplantation due to Byler Syndrome and secondary amyloidosis related to FMF, diagnosed as rapidly growing large amyloid goiter. Deposits of extracellular amyloid and dense adipose metaplasia diagnostic for amyloid goiter are determined upon histopathological examination of thyroidectomy material.When goiter was detected in cases with history of systemic amyloidosis and rapidly growing goitre, amyloid goiter should be remembered at first. This case is unique since two autosomal genetic disorders are together in the same patient and important as it emphasizes the consequences of consanguineous marriage, early diagnosis and treatment compliance of FMF and the awareness of amyloid goiter in patients followed by primary care physicians and healthcare professionals.
- Sonographic assessment of spleen size in Turkish migrants with familial mediterranean Fever in Germany. [Journal Article]
- J Ultrasound Med 2014 Nov; 33(11):1991-7.
Familial Mediterranean fever (FMF) can be associated with splenomegaly. Prospective quantitative data are lacking. We performed a sonographic assessment of spleen size in patients with FMF and healthy control participants to assess its diagnostic value.Patients with FMF according to the criteria of Livneh et al (Arthritis Rheum 1997; 40:1879-1885) who were in an asymptomatic interval and control participants were prospectively included in this study in Germany and underwent sonographic measurement of the spleen as well as a structured interview and a physical examination. Patients and controls were Turkish migrants.Thirty-six patients and 27 controls were included. Patients and controls did not differ significantly in age (mean ± SD, 34.8 ± 9.7 versus 33.3 ± 10.0 years, respectively; P = .56), sex, height, weight, or body mass index (26.7 ± 4.7 versus 26.1 ± 4.3 kg/m(2); P = .63). Spleen size was greater in patients than controls in width (4.3 ± 1.0 versus 3.7 ± 0.7 cm; P = .008) and also length (12.1 ± 1.9 versus 10.5 ± 1.4 cm; P = .001). Twenty-six of 36 patients (72.2%) had a history of appendectomy compared to 3 of 27 controls (11.1%; P < .001). The combination of an enlarged spleen (length >11 cm and/or width >4 cm) gave specificity of 100% (95% confidence interval, 87%-100%) and a positive predictive value of 100% (95% confidence interval, 78%-100%) for the diagnosis of FMF in our study.Spleen size as evaluated by sonography is larger in patients with FMF compared to healthy controls. Most patients with FMF included in this study had undergone appendectomy. Familial Mediterranean fever should be considered as a differential diagnosis in Turkish migrants in Germany if the spleen is enlarged and a history of appendectomy is reported.
- The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis. [Journal Article]
- Indian J Hematol Blood Transfus 2014 Sep; 30(Suppl 1):138-41.
Familial Mediterranean fever (FMF) is a genetic disease with autosomal inheritance characterized by recurrent fever, abdominal pain, and serositis attacks. It is relatively common in the races and ethnical groups around Mediterranean Sea (Sephardic Jews, Armenians, Turks and Arabians). Hereditary elliptocytosis (HE) is common genetic defect of the red blood cell membrane skeleton. Spectrin mutations are the predominant causes of HE. Hypereosinophilia is defined as a number of eosinophil granulocytes equal or greater than 0.5 × 10(9)/L of circulating blood. The main causes are allergies and parasitic infections. This case report describes a Turkish female HE patient who presented with FMF and hypereosinophilia. Genetic analysis revealed heterozygous mutation in exon 10 of the MEFV gene (V726A). The patient was successfully treated with colchicine and steroid treatment at 3-month follow-up. To the best of our knowledge, this is the first report of association between FMF, HE, and hypereosinophilia.
- Autoimmunity and autoinflammation as the yin and yang of idiopathic recurrent acute pericarditis. [REVIEW]
- Autoimmun Rev 2014 Oct 11.
Autoimmunity and autoinflammation are generally considered as mutually exclusive mechanisms of diseases but may concur to specific syndromes. Idiopathic recurrent acute pericarditis (IRAP) is defined as the recurrence of pericardial symptoms at any point following the prior cessation of acute pericarditis, and the latency is generally 6weeks. Manifestations of pericarditis such as pericardial friction rub, electrocardiographic changes, and pericardial effusion are less frequent in the subsequent episodes compared to the index attack, and in some cases the only clinical sign is represented by a suggestive chest pain. Several autoimmune diseases may manifest with pericarditis which is often related to viral infections, while postviral pericarditis may in turn display a nonspecific autoimmune background. Similarly, autoinflammatory syndromes such as familial Mediterranean fever and tumor necrosis factor receptor-associated periodic syndrome are characterized by self-limiting pericardial symptoms. Corticosteroids are generally effective, thus supporting the autoimmune nature of IRAP, but dramatic results are obtained with interleukin-1 blocking agents in corticosteroid-dependent cases, pointing to a pathogenic role for the inflammasome. Based on these observations, we submit that IRAP represents a paradigmatic example of the putative coexistence of autoimmunity and autoinflammation: the main aim of this review is to critically discuss the hypothesis as well as the current understanding of this enigmatic clinical condition.
- The immunological function of familial Mediterranean fever disease protein Pyrin. [JOURNAL ARTICLE]
- Sci China Life Sci 2014 Oct 11.
Pyrin, encoded by MEFV gene, is conserved in humans and mice. Mutations in the MEFV gene are associated with the human autoinflammatory disease familial Mediterranean fever (FMF). Pyrin can interact with the inflammasome adaptor ASC and induce inflammatory caspase-1 activation in monocytic cells, but the physiological function of Pyrin has been unknown for many years. Here we summarize previous studies of Pyrin function under the context of FMF and immunity, and discuss a recent study demonstrating that Pyrin forms an inflammasome complex for caspase-1 activation in innate immunity. Pyrin inflammasome detects inactivating modifications of host Rho GTPases by diverse bacterial toxins and infections, including Clostridium difficile glucosylating cytotoxin TcdB, FIC-domain adenylyltransferase effectors from Vibrio parahaemolyticus and Histophilus somni, ADP-ribosylating Clostridium botulinum C3 toxin as well as Burkholderia cenocepacia infection. The mode of Pyrin action, i.e., sensing pathogen virulence activity rather than directly recognizing a microbial molecule, represents a new paradigm in innate immunity.
- Detection of Mediterranean fever gene mutations in Egyptian children with inflammatory bowel disease. [JOURNAL ARTICLE]
- Int J Rheum Dis 2014 Oct 8.
The aim of the current study is to investigate the prevalence of familial Mediterranean fever gene (MEFV) mutations in a cohort of Egyptian children with inflammatory bowel disease (IBD), and to characterize familial Mediterranean fever (FMF)-IBD patients, helping better understanding of IBD pathogenesis.The study enrolled 17 patients with ulcerative colitis (UC), 15 with Crohn's disease(CD), 10 with indeterminate colitis (IC) and 33 healthy children as controls. All cases and controls were tested for 12 FMF gene mutations by reverse hybridization after multiplex polymerase chain reaction amplification and DNA sampling.Eighty-eight percent of the IBD patients carried the mutations, with Sequence variant V627A being the commonest versus 42.4% of controls. No associations were found between MEFV gene mutations, and phenotypic characteristics of IBD patients.IBD patients, in populations with a high background carrier rate of MEFV variants, should be screened for MEFV gene mutations, especially those diagnosed as indeterminate colitis. Testing larger numbers of healthy Egyptian children for MEFV gene mutation is important to further determine the allele frequency in Egypt.
- Increased prevalence of MEFV exon 10 variants in Japanese patients with adult onset Still's disease. [JOURNAL ARTICLE]
- Clin Exp Immunol 2014 Oct 6.
Autoinflammatory diseases include a large spectrum of monogenic diseases, e.g. familial Mediterranean fever (FMF), as well as complex genetic trait diseases e.g. adult onset Still's disease (AOSD). In populations where FMF is common, an increased MEFV mutation rate is found in patients with rheumatic diseases. The aim of this study was to examine MEFV mutations in Japanese patients with AOSD. Genomic DNA was isolated from 49 AOSD patients and 105 healthy controls, and exons 1, 2, 3, and 10 of the MEFV gene genotyped by direct sequencing. MEFV mutation frequencies in AOSD patients were compared with controls. We found no significant difference in overall allele frequencies of MEFV variants between AOSD patients and controls. However, MEFV exon 10 variants (M694I and G632S) were significantly higher in AOSD patients than controls (6.1% versus 0%). In addition, there was no significant difference between MEFV variant carriers and non-carriers with clinical manifestations, but the monocyclic clinical course of the AOSD disease phenotype was less frequently observed in patients without MEFV variants. AOSD patients had significantly higher frequencies of MEFV exon 10 mutations, suggesting that low-frequency variants of MEFV gene may be one of the susceptibility factors of AOSD.
- Serum Bone Markers Levels and Bone Mineral Density in Familial Mediterranean Fever. [JOURNAL ARTICLE]
- J Phys Ther Sci 2014 Sep; 26(9):1459-1463.
[Purpose] The aim of this study was to measure bone mineral density, serum and urinary bone turnover parameters, and to evaluate the influence of demographic and genetic factors on these parameters in FMF patients. [Subjects and Methods] Twenty-seven attack-free patients who were diagnosed with FMF (in accordance with Tel Hashomer criteria) were recruited at outpatient rheumatology clinics. We investigated whether there were any differences between the FMF patients and a control group in terms of lumbar and femur bone mineral density (BMD), standard deviation scores (Z scores and T scores) and bone markers. [Results] In terms of the median values of lumbar BMD (p = 0.21), lumbar T (p = 0.098) and Z (p = 0.109) scores, femoral neck BMD, femoral T and Z scores and total femur BMD, T (p = 0.788) and Z scores, there were no significant differences. [Conclusion] In our study, no statistically significant differences were found between FMF patients and a control group in terms of osteoporosis. The 25-OH vitamin D was found to be significantly lower in FMF patients than in the control group.