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  robpleticha | Seit 26 Tage | Ursprünglich geschrieben in Englisch Teilen Sie Ihre Geschichte mit...

  Es gibt auf der Welt noch viele Menschen, die mit FMF leben, ohne ihre Diagnose zu kennen. Wir rufen Patienten auf, die die Geschichte ihrer Diagnose und des Lebens mit FMF mitteilen möchten, hervorzutreten und ihre Geschichte zu erzählen. Es kann völlig anonym sein, aber es ist weitreichend und kann anderen helfen, hervorzutreten, mit ihrem Arzt zu sprechen und vielleicht festzustellen, dass das, mit dem sie all die Jahre gelebt haben, in Wirklichkeit diagnostiziert und behandelt werden kann.

  Wenn Sie mit FMF gelebt haben und Ihre Geschichte mitteilen möchten, so wie einige andere Patienten es getan haben, dann geben Sie bitte Ihre Geschichte über den Link in Ihrem Profil ein oder schicken Sie mir eine Nachricht.

  Rob
  Online-Koordinator der Patientengesellschaft
  Eurordis

  Ankündigung : Der Inhalt dieses Textes wurde von anderer Stelle automatisch übersetzt
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  Joelle | Colchicine, Diät | Seit 6 Tage | Ursprünglich geschrieben in Englisch No Colchicine, No GLUTEN, No FMF Attacks. - This message was original posted by Jsapriel on Feb.9, 2011.

  57 years old, two known FMF Gene mutations, I have been off Colchicine for the past 10 to 12 years. Since I stopped eating GLUTEN, I have one to one and half mild to very mild FMF attacks per year. FYI: I am in better physical shape than my two twenty something years old sons.
  ----

  I was born in 1953 in Morocco. I am now 57. I grew up and lived near and around Strasbourg, in the Northeast of France until 1984 which is when I moved to the United States. Both my parents are Sephardic Jews. My mother was born in Morocco from a family with a long presence in Morocco and my father was born in Egypt. Some genealogical research I did showed that my father’s family actually originated from present day Algeria.
  I was diagnosed with FMF for the first time at the age of one. As a toddler shortly after my initial FMF flares, while still living in Morocco, I had exploratory abdominal surgery that resulted in the removal of my appendix. I was re-diagnosed 4 or 5 times after the initial diagnosis. One of the subsequent re-diagnosis occurred while I was drafted in the French military. The FMF diagnosis enabled me to be discharged for medical reasons from the French military.

  Characteristics of my FMF flares:
  From 1 to 16 years of age: about 10 FMF flares/year. Typical symptoms included: severe cramps, vomiting, high fever, diarrhea, minor articulation pains and pleurisy. The worse part of the FMF flare would last 3 days. Total recovery would occur over a week. I would typically be out of school for one to three days. My typical diet during a flare would be fasting with just tea and/or bouillon for food.
  From about 17-18 years old to the year 2001, I typically would have between 4 to 6 flares/year. Typical symptoms included: severe cramps, no vomiting, high fever, diarrhea, minor articulation pains, pleurisy.
  By the time I reached my teenage years, I had developed a constant monitoring system that would check the state of my digestive track for the slightest early signs of an FMF Flare. As soon as I would detect an early FMF symptom, I immediately radically change my behavior and my diet to get ready for the flare. From the time I reached college, I made consistent efforts to be physically active. Today, by most measurements, I am in better shape than most healthy males in my age group and often in better shape than males much younger than I am.

  In 1976, while on an internship in Germany, I met a Russian doctor who had worked at Hadassah Hospital in Jerusalem and who informed me that Dr. Micha Levy had successfully been using Colchicine to treat FMF. During the following 3 years, I took 0.5 mg of Colchicine daily. My episodes were still occurring; however their intensity and duration was much lessen. After a few years on colchicine, I decided to only take colchicine at the onset of an FMF flare (2 * 0.5 mg every 4 hours - 3 times in a day) to derail the flare which I usually managed to lessen using this form of treatment.
  About 4 years ago, I was included in Dr. Kastner’s clinical study of FMF cases @NIH near Washington DC. The genetic testing administered by Dr. Kastner found that I have 2 out of 4 of the FMF genetic mutations he has identified.

  In 2001, by pure coincidence I realized that I was Gluten sensitive. For a few months I experimented with my diet to realize that abstaining from Gluten would enable me to avoid feeling a particular kind of tiredness ("spacey") that hampered most of my afternoon hours.
  For years I had spend my afternoon in a half awake/half asleep state which hampered various aspects of my life and is not a productive mental state considering that I have a very brain intensive job (I work in IT).
  In 2001, shortly after I went on a gluten free diet, the intensity and frequency of my FMF Flares decreased to about 1 to 2 medium to mild flares in a year. FMF patients are typically very sensitive to stress. At the time that I went on a gluten free diet, I was divorcing and unemployed. It was probably the most stressful time of my life and my FMF flares decreased in intensity and frequency.
  At the time of this writing, I had not had a full blown FMF flare in the past 2 years, not even a mild one.
  However, I am not totally free of FMF symptoms: once in a while I still have very mild FMF symptoms such as mild pains in the articulations or unexplained sleeplessness.
  As soon as I absorb Gluten, even small amounts of Gluten, my digestive track slows down to a crawl, I feel tired and bloated, I feel strange skin sensations, etc...
  It is very obvious to me that, in my case, Gluten acts as a trigger inflammatory agent. However, for some reason, a full FMF flare does not occur until a certain threshold is reached. It looks like Gluten caused inflammation follows a cumulative pattern before manifesting itself as a full blown FMF episode.

  In collaboration with Dr. Janine Jeager from the University of Virginia, we have identified 9 cases of FMF patients whose health improved when going on a Gluten free diet. I am not suggesting that the health of all FMF patients who improve if they went on a Gluten Free diet.
  I am suggesting that some FMF patients could entirely free themselves of the most painful and undesirable symptoms of FMF by going on a Gluten Free diet.
  I suggest that a GF diet is a worth while experiment to try for at least one to three months to determine if it has a positive impact on the FMF flares.

  This message was original posted by Jsapriel on Feb 9, 2011
  Eine Antwort zu dem Thema — Alle Antworten ansehen

  • 
    Joelle Seit 6 Tage | Ursprünglich geschrieben in Englisch

    Thank you Jsapriel for sharing your story with others on the forum.

    While many individuals suffering from FMF may have noticed a correlation between consuming certain foods and FMF attacks, these are anecdotal observations, no empirical evidence exists on this yet; it would make an interesting topic for future research… I was unable to locate any articles related to FMF or gluten written by Dr. Janine Jager (sp?).

    Countless scientific research proves that colchicine is the treatment of choice for FMF sufferers and prevents FMF’s most serious complication, Amyloidosis, which can lead to renal failure.

    Although these changes in your diet may have helped curb your attacks, it is advisable that any FMF sufferer considering discontinuing colchicine treatment should first consult their treating physician to discuss the associated risks.

    I am unsure of your genetic diagnosis. You state ‘The genetic testing administered by Dr. Kastner found that I have 2 out of 4 of the FMF genetic mutations he has identified.’

    Perhaps the excerpt below applies in your case….

    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.

    See more excerpts below from article by Dr. Mordechai Shohat of the Molecular Genetics dept, Rabin Medical Center for more information regarding managing FMF, and preventing Amyloidosis.

    Excepts taken from GeneReviews- NCBI Bookshelf- Familial Mediterranean Fever
    www.ncbi.nlm.nih.gov/books/NBK1227/ (for the full article)

    Summary
    Disease characteristics. Familial Mediterranean fever (FMF) comprises two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to renal failure, is the most severe complication. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.
    Management. Treatment of manifestations: treatment of febrile and inflammatory episodes with nonsteroidal anti-inflammatory drugs (NSAIDs); routine treatment of end-stage renal disease (ESRD), including live related-donor renal transplantation. 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. Agents/circumstances to avoid: possible worsening of symptoms with cisplatin; possible adverse effect on renal transplant graft survival with cyclosporin A. Testing of relatives at risk: Offer molecular genetic testing to all first-degree relatives and other family members (regardless of symptoms) especially when the p.Met694Val allele is present because renal amyloidosis can be prevented with colchicine treatment.
    …
    Prevention of Primary Manifestations
    Individuals who are homozygous for the mutation p.Met694Val or compound heterozygous for p.Met694Val and another disease-causing allele should be treated with colchicine as soon as the diagnosis is confirmed, as this drug prevents both the inflammatory attacks and the deposition of amyloid. Colchicine is given orally, 1-2 mg/day in adults. Children may need 0.5-1 mg/day according to age and weight. Affected individuals should receive colchicine for life.
    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.
    Continuous treatment with colchicine appears to be less indicated for individuals who are homozygous or compound heterozygous for the mutation p.Glu148Gln. Colchicine should only be given to these individuals if they develop severe inflammatory episodes and/or proteinuria as a result of amyloidosis.
    ….
    Prevention of Secondary Complications
    Treatment with colchicine 1 mg/day prevents renal amyloidosis even if the FMF attacks do not respond to the drug.
    …..

    Good luck,
    Joelle
• 
  toyre | Diagnose, Aktuelle Forschung | Seit 16 Tage | Ursprünglich geschrieben in Französisch 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 Antworten zu dem Thema — Alle Antworten ansehen

  • 
    Abeer Seit 10 Tage | Ursprünglich geschrieben in Englisch

    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 Seit 7 Tage | Ursprünglich geschrieben in Englisch

    abeer bonjour,

    read the story : rarediseasecommunities.org/en/communit...

    jean-pierre
  • 
    Abeer Seit 6 Tage | Ursprünglich geschrieben in Englisch

    Hello Jean-Pierre,

    Thank you very much for sharing me that story. It was very beneficial.

    Have a good day,

    - Ab
• 
  Anna | Colchicine | Seit 19 Tage | Ursprünglich geschrieben in Italienisch Colchicina - Interazioni

  Nel foglietto illustrativo della Colchicina, non sono indicate interazioni con altri medicinali. Da uno studio internazionale su tale farmaco, sappiamo però che vanno somministrati sotto vigilanza medica, qualora necessari, tutti quei farmaci metabolizzati dal citocromo epatico CYP450, lo stesso che viene utilizzato dalla Colchicina. Infatti la somministrazione contemporanea con altri medicinali che impiegano il citocromo P450, potrebbero indurre una riduzione della funzionalità epatica. Anche il pompelmo ed il bergamotto, producono lo stesso effetto, quindi chi utilizza la Colchicina dovrebbe evitarli. La AIFP, per aiutare i pazienti con FMF, ha stilato un elenco dei farmaci di uso più comune che aggiorna periodicamente. L'elenco in pdf, si può scaricare qui: rarediseasecommunities.org/uploads/doc...
  Gli amici di altre nazioni, hanno da segnalarci altri principi attivi da usare con attenzione?

  Anna

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