Familial Mediterranean Fever (FMF)

Familial Mediterranean Fever (FMF) is the most common hereditary autoinflammatory disorder, caused by variants in the MEFV gene, which encodes the protein pyrin. Pyrin dysfunction leads to recurrent, self-limited episodes of inflammation affecting the serosal membranes lining the abdomen, chest, and joints.

FMF is most prevalent among people of Mediterranean, Middle Eastern, North African, and Armenian ancestry, though it can occur in any population. Attacks typically begin in childhood or adolescence and recur every few weeks, each lasting one to three days before resolving completely.

With consistent colchicine therapy, the vast majority of patients achieve excellent control of attacks and, critically, prevention of amyloidosis — a serious long-term complication that was historically the leading cause of FMF-related morbidity before colchicine became standard care.

FMF is generally classified by the relationship between clinical attacks and amyloidosis risk, which has practical implications for monitoring.

FMF attacks are characteristically short, self-limited, and recurrent, with symptoms reflecting which serosal surface is inflamed during a given episode.

FMF is caused by inherited variants in the MEFV gene affecting the pyrin inflammasome regulatory pathway, with disease severity influenced by which specific variants are present.

Diagnosis combines a characteristic clinical attack pattern, often supported by ancestry and family history, with genetic confirmation of MEFV variants.

FMF is not staged like a cancer; instead, clinicians classify disease by attack frequency, colchicine responsiveness, and amyloidosis risk.

Treatment is anchored by daily colchicine, which both controls attacks and prevents amyloidosis; additional therapy is reserved for patients with inadequate response.

For colchicine-resistant or intolerant FMF, targeted biologic therapy addressing the same inflammasome pathway implicated in CAPS has become an important option.

Genetic and inflammatory markers support diagnosis, risk stratification, and treatment monitoring in FMF.

Most FMF is well managed by a treating rheumatologist, but certain situations benefit from specialist autoinflammatory disease re-evaluation.

With consistent colchicine therapy, the great majority of people with FMF live full, active lives with well-controlled attacks and a substantially reduced risk of amyloidosis compared to the pre-colchicine era.

Living well with FMF centers on consistent medication adherence alongside attack management and long-term monitoring.