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
ConversationsView: Translations (EN) Original language
[ Expand all ]
robpleticha | Genetics | published 5 months ago | Originally written in English Sequencing of the MEFV (FMF) - Isabelle TOUITOU
Is your mutation listed here?
Here is a list of laboratories offering clinical testing for FMF:
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/Unknown
I'm in the USA. My doctor has no knowledge of fmf at all. I'm hoping to get into a study.
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.
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?
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,..?
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.