Familial Mediterranean fever
- Periodic peritonitis
- Recurrent polyserositis
- Benign paroxysmal peritonitis
- Periodic disease
- Familial paroxysmal polyserositis
Your QuestionHow is amyloidosis diagnosed in those with familial Mediterranean fever? How is the effectiveness of colchicine monitored?
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Questions on this page
- What are the effects of amyloidosis in those with familial Mediterranean fever (FMF)?
- How might amyloidosis be diagnosed in those with familial Mediterranean fever (FMF)?
- How might familial Mediterranean fever (FMF) be treated?
- How can the effectiveness of colchicine be monitored in those with familial Mediterranean Fever (FMF)?
A common therapy for FMF is daily use of the drug colchicine, a medicine that reduces inflammation. Many people require colchicine for life. This therapy has been successful in preventing attacks of fever in 75 percent of those who take the drug regularly. Over 90 percent of people with FMF demonstrate a marked improvement. Even if colchicine does not prevent the fever attacks, it does prevent the amyloidosis. However, compliance in taking colchicine every day is very important. If a person stops taking the drug, an attack can occur within a few days. Complications of colchicine use can also occur and include muscle weakness (myopathy) and a toxic epidermal necrolysis-like reaction.
Since the gene that causes FMF codes for the protein pyrin, researchers hope that by studying how this protein works they will ultimately develop improved treatments for FMF, and possibly for other conditions involving excess inflammation.
The effectivess colchicine depends a person's genotype. For example, people who inherit one (heterozygous) or two (homozygous) copies of the p.Met694Val 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. These individuals need to be on colchicine for life.
People who do not have the p.Met694Val allele 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 have one or two copies of the p.Glu148Gln allele. Colchicine should only be given to these individuals if they develop severe inflammatory episodes and/or proteinuria as a result of amyloidosis.