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Meet, discuss & support other patients or families living with Familial Mediterranean Fever. Participate in group discussions. Contribute to topics, or just share what's on your mind
Conversations
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robpleticha | Genetics | published 5 months ago | Originally written in English Sequencing of the MEFV (FMF) - Isabelle TOUITOU
Is your mutation listed here?
fmf.igh.cnrs.fr/ISSAID/infevers/search.php...
Here is a list of laboratories offering clinical testing for FMF:
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/c...
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Leahmaines published 6 days ago | Originally written in English
I have five mutations but none are the typical ones found for fmf diagnosis. A doctor in turkey emailed me yesterday and told me he has had only 6 patients in his clinic with my p588p mutation and they had typical fmf symptoms and all responded well to colchicine. However, in those six patients, they searched for the possible presence of other autoinflammatory disorders, i.e. cryopyrinopathies, and synonimous amino acid substitutions of those causative genes, and they were also observed. MVK and TNFRSF1A causative genes did not possess any mutations.
FMF Here are my weird fmf hetro markers:
Exon 3 R314R (p.Arg314Arg) c.942C>T France/Jewish Non Ashkenasi
Exon 5 E474E (p.Glu474Glu) c.1422G>A France/Jewish Non Ashkenasi
Exon 5 Q476Q (p.Gln476Gln) c.1428A>G Unknown/Unknown
Exon 5 D510D (p.Asp510Asp) c.1530T>C Unknown/Unknown
Exon 9 P588P (p.Pro588Pro) c.1764G>A Unknown/UnknownI'm in the USA. My doctor has no knowledge of fmf at all. I'm hoping to get into a study.
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FMF-NL published about 12 hours ago | Originally written in English
Dear Leah,
Did you ask this doctor to get into a study? There are crossover mutations for example FMF en TRAPS, Behcet and other Autoinflammatory diseases. I can help you contacting professors doing research on mutations. You can private messag me.
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Leahmaines published about 7 hours ago | Originally written in English
I don't know how to private message on this board. I would like to get into a study. Please contact me. I'm not sure where to find a private message so I can give you my contact info?
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My husband was on Colchcine for 17 years, had 1 or2 attacks. Since starting Colcrys he had 2 attacks during 0.5 year. Did anybody experienced such a thing?
Vickie-
FMF-NL published about 11 hours ago | Originally written in German
Hello Vickie,
At this link you can see the research that has been done on different brands of colcichine.
rarediseasecommunities.org/uploads/doc...I hope this helps. Otherwise you can privat message me.
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i heard that FMF patients are in risk of multiple Sclerosis more than others,Of course i just heard i don't knoew if its true or no?Does anyone in this group hear about FMF and multiple sclerosis,..?
Thank you-
FMF-NL published about 11 hours ago | Originally written in German
Hello Sahel,
There is no direct correlation found with autoinflammatory diseases and increased likelihood of autism, aspergers, ADD or other such conditions like MS. However there are some patients that have one of these and also an FMF.
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I live in central kentucky, and my doctor has never seen fmf before. I need to find a doctor with some knowledge of fmf who is not too far away.
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toyre published 6 days ago | Originally written in English
Hello,
AFFMF contact or visit their website you will find all the answers to your questions.
good luck
jp toyre
Moderator for France community rare diseasesaffmf.jimdo.com/
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Familial Mediterranean Fever community news
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Dramatic beneficial effect of interleukin-1 inhibitor treatment in patients with familial Mediterranean fever complicated with amyloidosis and renal failure FMF complicated with amyloidosis and treated with anakinra.
show transcript
News, published 4 months ago
Abstract only -
The regulation of MEFV expression and its role in health and familial Mediterranean fever
show transcript
News, published 7 months ago
Abstract only -
Novel Protagonists in Autoinflammatory Arthritis of Familial Mediterranean Fever
show transcript
News, published 8 months ago
Case report abstract -
The familial Mediterranean fever gene as a modifier of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome.
show transcript
News, published 8 months ago
PATIENTS AND METHODS:The cohort of this ongoing prospective study consisted of 124 children with PFAPA syndrome, followed in a single referral center, who were tested for MEFV mutations. Demographic data, clinical characteristics, and disease course of 65 PFAPA patients with and 59 without MEFV mutations (M+ and M-, respectively) were compared.
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Researchers identify key to molecular signals in disease affecting Mediterranean populations
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News, published 8 months ago
National Institutes of Health researchers studying familial Mediterranean fever (FMF) — a rare genetic disorder that causes patients to experience seemingly unprovoked recurring episodes of fever — have discovered a novel pathway that triggers inflammation in these patients. -
Parsing familial Mediterranean fever, beta thalassemia and Munchausen syndrome by proxy.
show transcript
News, published 9 months ago
The show's portrayal of familial Mediterranean fever is limited, says Dr. Wayne Grody, professor of medical genetics and molecular pathology at UCLA and a world expert in FMF. -
Anti-TNF agents in familial Mediterranean fever: report of three cases and review of the literature
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News, published 9 months ago
Herein we present reports of three patients (all were positive for HLA B27) with typical spondylitis associated with FMF who were successfully managed with anti-TNF agents, along with a literature review. -
Familial Mediterranean Fever and Hypercoagulability
show transcript
News, published 9 months ago
Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease which is characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis, or erysipelas-like skin disease. As such, FMF is a prototype of autoinflammatory diseases...
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Efficacy and Safety of Canakinumab in Patients With Colchicine Resistant Familial Mediterranean Fever
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News, published 9 months ago
Establish the safety and efficacy of 3 months treatment with canakinumab in patients with colchicine resistant Familial Mediterranean Fever... -
Coexistence of vasculitides with Familial Mediterranean Fever
show transcript
News, published 9 months ago
AbstractFamilial Mediterranean fever (FMF) is the most common autoinflammatory disease characterized by recurrent self-limited attacks of fever accompanied with peritonitis, pleuritis, or arthritis. FMF may coexist with various systemic..
- A joint EURORDIS - NORD project
- European Organisation for Rare Diseases
- National Organization for Rare Disorders