Presentation Of Familial Mediterranean Fever Research Articles

Arthritis as presentation of familial Mediterranean fever

Arthritis as presentation of familial Mediterranean fever

84-Year-Old Man With Night Sweats, Weight Loss, and Diarrhea

An 84-year-old man with a history of coronary artery disease, hypertension, hyperlipidemia, ischemic stroke, and gastroesophageal reflux disease presented to the outpatient gastroenterology clinic with a 3-month history of night sweats, generalized weakness, nausea, vomiting, nonbloody postprandial diarrhea, and an 18-kg weight loss. He also reported a recent rash and daily morning stiffness in his fingers and knees lasting up to about 30 minutes. He denied alcohol or intravenous drug abuse. Previously, he had been taking several medications, but all had been recently discontinued because of the persistent diarrhea. On examination, the patient had normal vital signs. He appeared cachectic, with a distended abdomen with flank dullness but no pain on palpation. The joints of his fingers and knees were tender to palpation, and soft tissue swelling was evident. No other abnormalities were found on examination of the head, ears, eyes, nose and throat, skin, and lymphatic, cardiac, respiratory, and thyroid systems. A computed tomographic (CT) scan of the abdomen and pelvis obtained 1 month previously at another institution revealed abdominal and pelvic ascites and mildly prominent aortocaval and periportal lymph nodes. A positron emission tomographic/CT scan also obtained at another facility did not suggest malignancy.

Idiopathic Uveitis and Familial Mediterranean Fever: Is There Any Relationship?

Introduction. Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by attacks of fever and polyserositis. FMF is often associated with other autoimmune diseases such as rheumatoid arthritis, polyarteritis nodosa (PAN), and Behcet. Uveitis is an inflammatory process caused by underlying infectious and inflammatory disorders. This study investigates the probable relationship between idiopathic uveitis and FMF. Methods. Patients with idiopathic uveitis were analyzed for the 12 most common MEFV mutations (P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) by a reverse hybridization assay (FMF StripAssay,Vienna lab,Vienna, Austria). Results. 12 patients with idiopathic uveitis were enrolled in this study. 10 of them were female. The youngest patient was a 7-year-old child and the oldest was 57. The most common complaints of patients were blurred vision and then eye redness. One patient was heterozygous for R761H. Genetic analysis of the 12 most common MEFV mutations in the patients with idiopathic uveitis didnot have any positive results. Conclusion. According to the analysis of the 12 most common MEFV gene mutations, FMF is not an underlying cause of idiopathic uveitis. On the other hand, uveitis merely could not be the first presentation of FMF.

PReS-FINAL-2222: FMF presenting with the features of malignancy

Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by periodic attacks of fever and serositis caused by mutations in FMF gene (MEFV). Splenomegaly and lymphadenopathy has been reported in FMF. The abdominal lymphadenopathy was reported in the mesentery during laparotomies for acute abdominal attacks of FMF.

Familial Mediterranean Fever Presenting with Perimenstrual Attacks and Infertility

Familial Mediterranean Fever Presenting with Perimenstrual Attacks and Infertility

Familial Mediterranean Fever Presenting with Ascites and Myalgia: A Case Report

Familial Mediterranean Fever Presenting with Ascites and Myalgia: A Case Report

Late presentation of familial Mediterranean fever associated with P369S/R408Q variant in the MEFV gene

Late presentation of familial Mediterranean fever associated with P369S/R408Q variant in the <i>MEFV</i> gene

Familial Mediterranean Fever with Onset at 66 Years of Age

The patient was a 68-year-old woman who had experienced recurrent febrile episodes since 66 years of age. Despite various examinations and treatments, the etiology remained unclear. Further examinations following another referral failed to uncover the cause. Therefore, despite her age, it was presumed that she had familial Mediterranean fever. An analysis of the familial Mediterranean fever (MEFV) gene detected heterozygous L110P, E148Q, and R202Q mutations. No further febrile episodes occurred after colchicine treatment was initiated. Familial Mediterranean fever presenting in patients in their sixties is extremely rare.

Familial Mediterranean Fever Presenting as an Acute Abdomen: The Role of a Careful History in Making the Diagnosis

Purpose: Background: Familial Mediterranean fever (FMF) is a genetic disorder characterized by sporadic, paroxysmal attacks of fever and serositis. Typical manifestations include recurrent attacks of peritonitis (95% of patients), pleuritis, synovitis and fever. The pain, which can closely resemble an acute surgical abdomen, lasts one to three days and resolves spontaneously. Recognition of FMF is vital because the condition can lead to renal failure from secondary amyloidosis which is preventable with colchicine treatment. Case Report A 47-year-old Sephardic Jewish female originating from Turkey presented to the UCLA FMF Clinic with a more than 30 year history of recurrent fever and severe abdominal pain localized to the left upper quadrant. Her pain lasted approximately three days and was associated with fevers for one day. Menstruation could trigger the episodes. She experienced no episodes during pregnancy. She described occasional monoarticular joint pain during the episodes of abdominal pain. These attacks occurred initially once a month but increased to weekly over the two years prior to her first clinic visit. She was completely well in between attacks. During childhood, she noted frequent erysipeloid skin eruptions on her lower extremities which were associated with fever. She underwent appendectomy at the age of 12 which revealed a normal appendix. She underwent cholecystectomy at age 45 for gallstones, but experienced the same symptoms after the surgery. No other family members had the same symptoms. Physical examination was unremarkable. Urine dipstick was negative for protein. This constellation of recurrent symptoms raised concern for FMF. The patient was treated with colchicine 1 mg daily. Since starting treatment, she has experienced no episodes of fever or abdominal pain for 25 years. Conclusion: Our case demonstrates the classic presentation of FMF which remained undiagnosed for 30 years. Given the rarity of the disease, most FMF patients do not receive their diagnosis from general physicians, even though the diagnosis of FMF usually requires only a careful detailed history. Our case highlights the need for physician awareness of this treatable disorder. It also represents the importance of a careful history to diagnose a patient who presented with recurrent severe abdominal pain and fever. Had the correct diagnosis been made 30 years before, this patient would have had a better quality of life, avoided unnecessary surgery, and above all, would not have been placed at risk for developing amyloidosis with possible end-stage renal disease.

Isolated myositis as a sole presentation of familial Mediterranean fever

Isolated myositis as a sole presentation of familial Mediterranean fever

Pitfalls in Familial Mediterranean Fever: Acute intestinal strangulation/obstruction due to primary adhesions

Familial Mediterranean Fever (FMF) presents in 90% of patients with painful attacks of peritoneal inflammation, which may mimic an acute surgical abdomen. These episodes characteristically resolve spontaneously within 72 hours. However, recurrent episodes of primary peritonitis may lead to the development of primary intraperitoneal adhesions, even in the absence of previous abdominal surgery. When an atypical bout of pain fails to resolve spontaneously and rapidly, the surgeon must consider the diagnosis of intestinal obstruction due to an adhesive band with the associated risk of strangulation with bowel necrosis. In this case report, we describe this rare but classical presentation of FMF for which any delay in diagnosis or treatment may result in severe morbidity.

Unilateral Anterior Uveitis and Amaurosis Fugax in a Patient with Familial Mediterranean Fever

Purpose: To increase awareness and emphasize clinically relevant management issues for patients with familial Mediterranean fever (FMF) presenting with ocular inflammation and other ocular symptoms. Method: A case of unilateral anterior uveitis and amaurosis fugax in a patient with FMF is described. The features of FMF including clinical signs and objective verification of a recurrence of an FMF attack are explained. Management of the described patient and patients with FMF presenting with ocular inflammation in general are discussed. Conclusion: Ophthalmologists are encouraged to report more cases of eye symptoms in FMF patients to elucidate the panorama of ocular pathologies associated with FMF. Objective verification of a recurrence of FMF attacks at first visit is recommended and appropriate samples should be taken. It is also worth noting that eye manifestations in FMF patients may occur during systemic prophylactic treatment.

Familial Mediterranean Fever Presenting as Anti-Cyclic Citrullinated Peptide Antibody Negative Palindromic Rheumatism

A 64-year-old Egyptian man who resides in the United States presented to the rheumatology clinic with 6 months history of episodic recurrent pauci--arthritis along with constitutional symptoms. His Mediterranean ancestry, anti-cyclic citrullinated peptide negativity, and cyclical palindromic rheumatism prompted an investigation for familial Mediterranean fever gene mutation. He was found to have heterozygous 694I gene mutation during MEFV analysis. He also met Liveneh 1 major and 1 minor criteria for the diagnosis of familial Mediterranean fever.

Presentation of familial Mediterranean fever in a heterozygous MEFV mutation triggered by immunosuppressive therapy for myelodysplastic syndrome

Familial Mediterranean fever (FMF) is a recessively inherited disease characterized by recurrent episodes of systemic inflammation. The cause of this disease is the mutations affecting both the alleles of MEFV gene. We describe here a case in a heterozygous MEFV mutation complicated with myelodysplastic syndrome (MDS). Clinical symptoms and the effectiveness of colchicines in this patient are typical for FMF. The first attack of FMF in this patient was observed during immunosuppressive therapy for MDS. This case suggests the possibility that certain immunosuppressants may trigger FMF attack in asymptomatic cases carrying MEFV heterozygous mutation.

Attacks of severe dysmenorrhea as the sole manifestation of Familial Mediterranean Fever (FMF)

Familial Mediterranean Fever (FMF) is an autosomal recessive disease (MEFV gene) characterized by recurrent fever and inflammatory serositis. Although majority of patients have random pattern of attacks, some reports described precipitating factors. A literature review indicated that FMF attacks occurring only during menstruation are rarely seen. We report the cases of three patients with severe dysmenorrhoic pain as unusual clinical presentation of FMF. They were 3 females with a mean age at onset of 12 years. They never had typical attacks of fever and abdominal or chest pain, but they suffered from regular and severe dysmenorrhoic pain. Leukocytosis and C-reactive protein (CRP) elevation were noted during these attacks in all patients. Unlike dysmenorrhoea, none of these patients' attacks responded to non-steroidal anti-inflammatory drugs. The diagnosis of FMF was based on typical clinical and laboratory features. On investigation of MEFV, M694V was the most frequent mutation All patients responded well to colchicine, and amyloidosis was not documented in any patients. In conclusion, we suggest that gynecologists must be aware of FMF in the differential diagnosis of dysmenorrhoea or endometriosis especially in the people of Mediterranean origin.[1]

Familial Mediterranean fever and IgA nephropathy: case report and review of the literature

Familial Mediterranean fever (FMF) is the most common form of autoinflammatory syndromes and is characterized by recurrent inflammatory attacks of fever and serositis. Amyloidosis is the most common renal complication of FMF. In addition to amyloidosis, many renal lesions have been anecdotally reported in patients with FMF and other hereditary periodic fevers. We report a Turkish child with FMF 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.

Autoinflammatory Diseases: Mimics of Autoimmunity or Part of its Spectrum? Case Presentation

Autoinflammatory diseases are very rare diseases presenting within a wide clinical spectrum. Recognition of the main clinical features are challenging due to overlapping or mimicking with autoimmune diseases. A case series is reviewed to illustrate typical and atypical features and the difficulties of these diagnoses in the low prevalence areas--a typical unrecognized case of familial Mediterranean fever (FMF) in a youngster, an atypical adult case with overlapping of FMF with Behçet disease, and an early presentation of FMF in infant presenting with inflammatory colitis, as well as the overlapping features within the cryopirin diseases spectrum in an 8-year-old boy who presented with systemic onset arthritis. These cases may represent examples of a very puzzling relationship among disorders of innate and adaptive immune systems and inflammation.

Sustained, progressive, nonresolving abdominal pain: a previously undescribed clinical presentation of familial Mediterranean fever

Familial Mediterranean fever (FMF) is a genetic disorder characterized by sporadic, acute attacks of fever and serosal inflammation. Typical manifestations are recurrent febrile episodes of acute instauration for brief duration (1 to 4 days) that is associated with severe pain due to serositis at one or more sites. Abdominal crisis occurs in 95% of the patients. Treatment with colchicine is highly effective as preventive treatment, but it is considered to be ineffective for the treatment of established acute attacks. As mentioned, untreated crisis resolves spontaneously in 1 to 4 days. Prolonged, nonresolving crisis of abdominal pain refractory to nonsteroidal anti-inflammatory drugs (NSAIDs) and opioids, with fever and elevation of acute phase reactants that resolves after the administration of colchicine, is a clinical presentation undescribed hitherto. The aim of this paper is to report a patient with this distinctively unusual clinical presentation of FMF.

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.

Familial Mediterranean Fever (FMF) in Turkey

Familial Mediterranean fever (FMF) is an autosomal recessive disease that is prevalent among eastern Mediterranean populations, mainly non-Ashkenazi Jews, Armenians, Turks, and Arabs. Since a large proportion of all the FMF patients in the world live in Turkey, the Turkish FMF Study Group (FMF-TR) was founded to develop a patient registry database and analyze demographic, clinical, and genetic features. The cohort was composed of 2838 patients (mean age, 23.0 +/- 13.33 yr; range, 2-87 yr), with a male:female ratio of 1.2:1. There was a mean period of 6.9 +/- 7.65 years from disease onset to diagnosis; the period was about 2 years shorter for each decade since 1981. Ninety-four percent of patients were living in the central-western parts of the country; however, their familial origins (70% from the central-eastern and Black Sea regions) reflected not only the ongoing east to west migration, but also the historical roots of FMF in Turkey. Patients' clinical features included peritonitis (93.7%), fever (92.5%), arthritis (47.4%), pleuritis (31.2%), myalgia (39.6%), and erysipelas-like erythema (20.9%). Arthritis, arthralgia, myalgia, and erysipelas-like erythema were significantly more frequent (p < 0.001) among patients with disease onset before the age of 18 years. Genetic analysis of 1090 patients revealed that M694V was the most frequent mutation (51.4%), followed by M680I (14.4%) and V726A (8.6%). Patients with the M694V/M694V genotype were found to have an earlier age of onset and higher frequencies of arthritis and arthralgia compared with the other groups (both p < 0.001). In contrast to other reported studies, there was no correlation between amyloidosis and M694V homozygosity in this cohort. However, amyloidosis was still remarkably frequent in our patients (12.9%), and it was prevalent (27.8%) even among the 18 patients with a disease onset after age 40 years. Twenty-two patients (0.8%) had nonamyloid glomerular diseases. The high prevalence of vasculitides (0.9% for polyarteritis nodosa and 2.7% for Henoch-Schonlein purpura) and high frequency of pericarditis (1.4%) were striking findings in the cohort. Phenotype II cases (those patients with amyloidosis as the presenting or only manifestation of disease) were rare (0.3% or less). There was a high rate of a past diagnosis of acute rheumatic fever, which suggested a possible misdiagnosis in children with FMF presenting with recurrent arthritis. To our knowledge, this is the largest series of patients with FMF reported from 1 country. We describe the features of the disease in the Turkish population and show that amyloidosis is still a substantial problem.