Familial Mediterranean Fever

Overview

Familial Mediterranean fever is an inherited condition, not an infection, caused by mutations in the MEFV gene that lead to repeated episodes of fever along with pain in the abdomen, joints, or chest. It's most common in people with Mediterranean or Middle Eastern ancestry, and it usually shows up early in life — most cases start before age 20, and many before age 10. A child can inherit the condition from one or both parents carrying the mutated gene.

Questions to Ask Your Doctor

• Does the genetic test confirm one mutated copy of the MEFV gene or two, and does that change what we should expect?
• How long and how often will these fever episodes typically last once the diagnosis is confirmed?
• Why is colchicine taken every day even between attacks, and what happens if a dose is missed?
• If colchicine doesn't fully control the episodes, what other treatment options are available?
• What symptoms during an abdominal attack would mean we need to rule out appendicitis or another emergency?

Getting Care

A rheumatologist familiar with periodic fever syndromes should confirm the diagnosis and manage long-term treatment, and for children a pediatric rheumatologist is best suited to the condition. Seek care sooner if abdominal pain is severe or doesn't follow the usual pattern, since it can be difficult to tell apart from a surgical emergency like appendicitis.

Source: https://rheumatology.org/patients/familial-mediterranean-fever