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Bienvenue dans la Communauté FMF en ligne.
Mon nom est Jean-Pierre TOYRE, je suis un des modérateurs, pour l'organisation européenne des maladies rares Eurordis, de la communauté française Fièvre Méditerranéenne Familiale (FMF).
Cette organisation pour les maladies rares regroupe un large éventail de patients et d’associations de patients qui développent cette communauté pour les familles touchées par la FMF.
Je suis très fier de vous accueillir sur ce forum, un lieu pour discuter des questions liées à votre vie avec la FMF. Si je peux vous aider de quelques manières que se soit, envoyez-moi vos messages sur ce site, ou m’envoyer un email à [email protected]
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Rash Pattern and Duration Distinguish Hereditary Periodic Fever SyndromesDie Kopie ansehen
News, publiziert vor etwa 23 Stunden
Familial Mediterranean fever. The rash of FMF is usually stationary. Sometimes called erysipeloid erythema, the rash is reddish, raised, usually well demarcated, and sometimes painful. It often occurs on the dorsum of the foot, ankle, or lower leg.
The attacks typically last 1-3 days and occur on a monthly basis. These attacks are characterized by fever and rash accompanied by various kinds of inflammation, including pleural inflammation with effusion; massive joint effusions; and a nonerosive, nondeforming, monoarticular arthritis.
"Many of these patients have such severe abdominal pain during attacks that early in their disease they’re mistaken for appendicitis and undergo at least one exploratory laparotomy," according to Dr. Kastner.
Successful treatment of familial Mediterranean fever attacks with thalidomide in a colchicine resistant patient.Die Kopie ansehen
News, publiziert vor etwa 23 Stunden
Colchicine is the treatment of choice in familial Mediterranean fever (FMF) both for attacks and for prevention of secondary amyloidosis. The overall non-responder rate varies from 5-10 to 40%. Thalidomide is known to blunt the acute phase response. We report the efficacy of the addition of thalidomide to colchicine in controlling the febrile attacks and acute phase response in a patient with FMF resistant to 2 mg colchicine per day.
Evaluate the Safety and Efficacy of Canakinumab in Pediatric Patients With Colchicine Intolerant or Colchicine Resistant Familial Mediterranean Fever (FMF)Die Kopie ansehen
News, publiziert vor 3 Tage
A study designed to evaluate the role of treatment with a biological agent - Canakinumab in pediatric (age 4-20) FMF patients that are intolerant or resistant for colchicine treatment.
Status: Recruiting, Condition Summary: Colchicine Resistant/Intolerant Familial Mediterranean Fever
Familial Mediterranean fever (FMF) and multiple sclerosis: an association study in one of the world's largest FMF cohorts.Die Kopie ansehen
News, publiziert vor 7 Tage
Background and purpose: To describe and characterize the association between familial Mediterranean fever (FMF) and multiple sclerosis (MS). Methods: The patient registry of The National Center for FMF was screened for the coexistence of FMF and MS. Tel-Hashomer criteria were used for the diagnosis of FMF, and FMF severity was evaluated, using the simplified FMF severity scale. McDonald criteria were used for the diagnosis of MS, and neurologic disability was measured using the expanded disability status scale (EDSS). Results: We identified nine patients, affected with both FMF and MS. The onset of the FMF averaged 15.6 (3-37) years. Most patients suffered from abdominal and joint attacks, and 50% of the patients sustained a moderate to severe FMF. The onset of the MS was at an average age of 31.6 (17-50) years. Neurologic manifestations varied individually, without a dominant deficit, and the course was in a relapsing-remitting pattern in most. The median EDSS was in general of low score (3.0), apart from the patients who were homozygous for the M694V mutation, in whom the MS was more severe. Based on our case series, the frequency of MS in our FMF population is 0.075%, twice higher the expected rate in the general population (P = 0.0057). Conclusions: Multiple sclerosis is more common in FMF than in the general Israeli population. Homozygosity for the M694V MEFV mutation may aggravate the phenotype of MS and predispose FMF patients to develop MS.
Efficacy and Safety Study of KIACTA in Preventing Renal Function Decline in AA AmyloidosisDie Kopie ansehen
News, publiziert vor 10 Tage
From Clinicaltrials.gov :
The primary purpose of this study is to assess the efficacy and safety of treatment with Kiacta in adult patients with AA Amyloidosis.
MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever.Die Kopie ansehen
News, publiziert vor 29 Tage
Familial Mediterranean Fever (FMF, MIM 249100) is an autosomal recessive disease mainly affecting patients of the Mediterranean basin. It is an autoinflammatory periodic disorder characterised by recurrent episodes of fever and abdominal pain, synovitis and pleuritis. FMF is caused by mutations in the Mediterranean Fever (MEFV) gene located on chromosome 16p13.3. Several mutations in the MEFV gene have been characterised in different populations. However, very little is known about mutations in the MEFV gene in patients with Moroccan origin. The aim of this study is to determine the clinical components of FMF and characterise mutations in the MEFV gene in Moroccan patients. The study was carried out on 120 unrelated Moroccan patients referred to the department of medical genetics in Rabat for suspicious FMF over a period of 10 years. Patients were screened for the most common MEFV mutations by direct sequencing of exons 2 and 10. Of the 120 unrelated patients investigated, 56 patients (47%) were carriers of one or two MEFV mutations, and 64 patients (53%) had no detected mutations. Of those with mutations, 24 were homozygous (44%), 13 were compound heterozygotes (24%), and 19 patients had only 1 identifiable mutation (32%). The most frequent mutation in Moroccan patients is M694V (47%), followed by M694I (32%), A744S (6.5%), M680L (4%), M694del (2%) and E148Q (6.5%). The R761H, K695R and I692del mutations were rarely encountered (less than 1%). The V726A mutation was not found in our study. Our data represent the first report of MEFV gene mutations causing FMF in Moroccans patients. The M694V and M694I mutations are the most common mutations found in MEFV gene in Moroccan population; while the most common mutation in Arabs from the Middle-East region, the V726A, was not found in our population.
Search goes onDie Kopie ansehen
News, publiziert vor 30 Tage
In 2006, Danny was diagnosed with the hereditary Familial Mediterranean fever.
It's generally found in countries and people groups around the Mediterranean Sea, hence its name. No one in Danny's family has ever had anything to suggest it was passed on.
And yet, says Anik, it's the best explanation anyone has come up with so far.
There are several strains of the disease, but Danny seems to have symptoms of them all -though doctors haven't said if factors like his asthma and a bout of pneumonia are connected or not.
Relapsing polychondritis and familial Mediterranean fever; an associationDie Kopie ansehen
News, publiziert vor 30 Tage
Relapsing polychondritis (RP) and familial Mediterranean fever (FMF) are systemic inflammatory disorders with seemingly distinct genetic and pathophysiologic mechanisms. An association between these disorders has been described based on a single case report with few clinical details available. We recently encountered a patient with biopsy-proven RP and genetically confirmed FMF. Following identification of this individual, we conducted a retrospective review of all cases of RP in our institution from 2000-2009 and identified one additional patient with RP who is also a genetic heterozygote for FMF. These cases highlight the previously reported but sparsely documented relationship between these seemingly separate disorders.
A Japanese case of familial Mediterranean fever presenting diffuse bone marrow uptake of FDG-PET and high levels of neutrophil membrane CD64 expressionDie Kopie ansehen
News, publiziert vor etwa 1 Monat
A 46-year-old Japanese female was admitted to our hospital because of chest pain and fever of undetermined origin (FUO). She had been suffering from a periodic fever since she was 18-years old. [18F]FDG-PET was performed, revealing diffuse bone marrow uptake of [18F]FDG (Fig. 1). In the laboratory findings of haematology and biochemistry at the time of admission, there were no abnormalities except for elevated ESR and elevated levels of CRP (ESR 51 mm/h, CRP 6.54 mg/dl). Tests for ANAs, ANCAs and RF were negative. A peripheral blood smear revealed no abnormalities. Serum M-protein was not detected by immunofixation. Since we suspected FMF based on these findings, we performed the sequencing of all 10 exons of the MEFV gene and detected a heterozygous mutation (GAG to AAG) in codon 84 of exon 1 of the MEFV gene that resulted in a substitution of lysine for glutamic acid (E84K). In light of these findings, we initiated daily colchicine treatment (1.0 mg/day), and the patient’s clinical manifestation rapidly improved. FMF was diagnosed according to clinical criteria for the diagnosis in combination with a classification tree format .
An Old Gout Drug Gets New Life and a New Price, Riling PatientsDie Kopie ansehen
News, publiziert vor 10 Monate
By JONATHAN D. ROCKOFF
A centuries-old drug used to treat excruciating gout pain had cost just pennies a tablet—until last year. Now, the retail price has skyrocketed to more than $5 and some of the manufacturers have ceased production amid a battle over marketing rights.
The tale of how this common gout drug, colchicine, became the costlier branded drug Colcrys offers a window into the Byzantine world of drug pricing. The price rise is a consequence of a Food and Drug Administration effort to improve the safety of long-used but unapproved drugs, with a trade-off often made between drug affordability and safety.
- Ein EURORDIS - NORD - Gemeinschaftsprojekt
- Europäische Organisation für Seltene Krankheiten
- Nationale Organisation für Seltene Krankheiten
Finanziell unterstützt von
- AFM - AFM Téléthon
- leem - Les entreprises du médicament
- Europäische Union
- Executive Agency for Health and Consumers