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Reflections on the genetic evolution of FMF.

toyre | Diagnosis, Research | 4 months ago | Originally written in French Réflexions sur l’évolution génétique de la FMF.

Je suis étonné en lisant dans les divers forums les témoignages de certains patients atteint de la FMF qu’ils ne fassent pas référence à une origine méditerranéenne de leur famille pour être diagnostiqués atteint de la FMF.
Mais c’est un fait, ils réagissent positivement à la prise de colchicine tout en sachant que les tests génétiques sont négatifs.

Est-ce que la recherche actuelle peut apporter une réponse à cette question ?

Ce qui permettrait de corriger nos idées reçues et surtout d’apporter de l’espoir aux malades qui sont encore dans l’errance médicale.
jean-pierre
8 replies to the topic — see all replies
- Anna 4 months ago | Originally written in Italian
  
  Sulla base della mia esperienza, so che qui in Italia si dà molta importanza alle origini del paziente, facendo proprio una distinzione se vi è almeno un genitore del paziente, che sia originario delle regioni del sud della nazione, dove la concentrazione di portatori della mutazione genetica del MEFV è maggiore.
  
  Anna
- Abeer 3 months ago | Originally written in English
  
  Hello to all,
  
  Sorry but I do not speak French so am going to share my story in English. To make it short, in 2007, my genetic tests showed two mutations in the FMF gene and one of them is the most reported mutation that connected to developing Amyloidosis but I do not suffer from recurrent attacks. My symptoms are very mild that I can manage them or even ignore sometimes.
  
  For that, I have been lost whether I have to take Colchicine for life as some doctors recommended or I just monitor my Urine Analysis for Protein. I'm 31 year old female from the Mediterranean Region (Palestinian/Syrian).
  
  Peace,
  
  - Ab
- Anna 3 months ago | Originally written in Italian
  
  Hi Abeer, you should edit your story from your profile. So enter in your profile and at the top-right of the page, you'll find "Write a story". Thanks.
  
  Anna
- Abeer 3 months ago | Originally written in English
  
  Hi Anna, yes I know that I could write my story from there but here was my reply to the FMF Genetics topic .. just to share that part of my case.
  
  - Ab
- Joelle 3 months ago | Originally written in English
  
  Abeer,
  In response to your question: "I have been lost whether I have to take Colchicine for life as some doctors recommended or I just monitor my Urine Analysis for Protein."
  
  If I understand correctly, you have one copy of the M694V mutation and one copy of another disease-causing mutation. That would make you 'heterozygous for M694V and the other mutated allele'; lifelong colchicine is generally recommended with this type of FMF genetic diagnosis. Speak with your doctor about your concerns in taking colchicine.
  
  See below the current recommendations in the field of FMF research for your scenario:
  
  Prevention of primary manifestations: lifelong treatment of homozygotes for the p.Met694Val mutation or compound heterozygotes for p.Met694Val and another disease-causing allele with colchicine (1-2 mg/day orally in adults and 0.5-1 mg/day in children according to age and weight). Colchicine prevents the inflammatory attacks and the deposition of amyloid.
  
  Individuals who do not have the p.Met694Val mutation and who are only mildly affected (those with infrequent inflammatory attacks) should either be treated with colchicine or monitored every six months for the presence of proteinuria. Surveillance: annual physical examination and urine spot test for protein for those treated with colchicine.
  
  Excepts taken from GeneReviews- NCBI Bookshelf- Familial Mediterranean Fever
  www.ncbi.nlm.nih.gov/books/NBK1227/ (for the full article)
  
  Good luck.
- Abeer 3 months ago | Originally written in English
  
  Dear Joelle,
  
  Thank you very much for the valuable information. Yes am compound heterozygous for M694V and M694I. Yes honestly most of the doctors I have seen recommended lifelong Colchicine to prevent the deposition of amyloid and also my mild symptoms which I do not complain much about but yes doctors were concerned more about developing amyloidosis in the future as I have the M694V mutation.
  
  It just said another doctor I went to recently told me that she would pay more attention to the clinical symptoms and not a genetics test. She said we deal with humans bodies not just tests but honestly what she said was not convincing to me.
  
  Most doctors recommended 1.5 - 2 mg daily besides blood tests (ESR, CRP .. etc) and urine analysis every 6 months.
  
  Again, Thank you.
  
  Best Wishes,
  
  - Ab
- toyre 3 months ago | Originally written in English
  
  abeer bonjour,
  
  read the story : rarediseasecommunities.org/en/communit...
  
  jean-pierre
- Abeer 3 months ago | Originally written in English
  
  Hello Jean-Pierre,
  
  Thank you very much for sharing me that story. It was very beneficial.
  
  Have a good day,
  
  - Ab