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Genetic and Rare Diseases Information Center (GARD)

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Familial Mediterranean fever

Other Names for this Disease
  • Benign paroxysmal peritonitis
  • Familial paroxysmal polyserositis
  • FMF
  • Periodic disease
  • Periodic fever
More Names
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Your Question

How is amyloidosis diagnosed in those with familial Mediterranean fever? How is the effectiveness of colchicine monitored?

Our Answer

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What are the effects of amyloidosis in those with familial Mediterranean fever (FMF)?

Kidney amyloidosis (the build up of certain proteins in the kidneys) is common in untreated individuals with FMF, especially in Jews of North African origin. It can cause persistent, heavy proteinuria leading to nephrotic syndrome and eventually end-stage kidney disease. People with FMF who initially do not have symptoms can develop kidney amyloidosis as the first and only feature of FMF. With increased life expectancy in those with kidney failure due to dialysis and/or kidney transplantation, amyloid deposits are being found in other organs as well. The occurrence of amyloidosis varies by ethnicity, gender, and a person's specific gene mutations (also referred to as genotype). In untreated individuals, amyloidosis can occur in 60% of individuals of Turkish heritage and in up to 75% of North African Jews.[1]
Last updated: 1/19/2012

How might amyloidosis be diagnosed in those with familial Mediterranean fever (FMF)?

A urinalysis can be done to detect the presence of protein in the urine (proteinuria). If proteinuria is found, further evaluation is required, including a 24-hour urine collection and kidney function tests, and also, if indicated, rectal biopsy for the presence of amyloid.[1]
Last updated: 1/19/2012

How is familial Mediterranean fever (FMF) treated?

Currently, there is no known cure for FMF. Physicians can only treat the symptoms of the disease.[2]

A common therapy for FMF is daily use of the drug colchicine, a medicine that reduces inflammation. Colchicine is given orally, 1-2 mg/day in adults. Children may need 0.5-1 mg/day according to age and weight. Many people require colchicine for life.[1] This therapy has been successful in preventing attacks of fever in 75 percent of those who take the drug regularly. Over 90 percent of patients 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.[2] Complications of colchicine use can also occur and include muscle weakness (myopathy) and a toxic epidermal necrolysis-like reaction.[1]

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.[2]
Last updated: 1/19/2012

How can the effectiveness of colchicine be monitored in those with familial Mediterranean Fever (FMF)?

The effectiveness of colchicine in those with FMF usually depends on the specific alleles (or different mutations in a gene) that a person with FMF inherits from his or her parents (also referred to as a person's genotype). All individuals treated with colchicine should undergo an annual physical examination, including a urine spot test for protein, to monitor the effectiveness of this treatment.[1]

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.[1]

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.[1]

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.[1]

Some individuals appear to be unresponsive to colchicine treatment.[1]
Last updated: 1/19/2012