Familial Mediterranean fever is an inherited disorder characterized by recurrent bouts of fever and peritonitis, sometimes with pleuritis, skin lesions, arthritis, and, very rarely, pericarditis. Renal amyloidosis may develop, which may lead to renal failure. Descendants of inhabitants of the Mediterranean basin are most affected. Diagnosis is largely clinical, although genetic testing is available. Treatment with prophylactic colchicine prevents acute attacks as well as renal amyloidosis in most patients. Prognosis is excellent with treatment.
Symptoms and Signs
Onset is usually between the ages of 5 and 15 yr but may be much later or earlier, even during infancy. Attacks have no regular pattern of recurrence and vary in the same patient. They usually last 24 to 72 h, but some last ≥ 1 wk. Frequency ranges from 2 attacks/wk to 1 attack/yr (most commonly once every 2 to 6 wk). Severity and frequency tend to decrease during pregnancy and with amyloidosis. Spontaneous remissions may last years.
Fever as high as 40° C, usually accompanied by peritonitis, is the major manifestation. Abdominal pain (usually starting in one quadrant and spreading to the whole abdomen) occurs in about 95% of patients and can vary in severity with each attack. Decreased bowel sounds, distention, guarding, and rebound tenderness are likely to occur at the peak of an attack and cannot be differentiated from a perforated viscus on physical examination. Consequently, many patients undergo urgent laparotomy before the correct diagnosis is made. With diaphragmatic involvement, splinting of the chest and pain in one or both shoulders may occur.
Other manifestations include acute pleurisy (in 30%); arthritis (in 25%), usually involving the knee, ankle, and hip; an erysipelas-like rash of the lower leg; and scrotal swelling and pain caused by inflammation of the tunica vaginalis of the testis. Pericarditis occurs very rarely. However, the pleural, synovial, and skin manifestations of FMF vary in frequency among different populations and are less frequently encountered in the US than elsewhere.
The most significant long-term complication of FMF is chronic renal failure caused by deposition of amyloid protein in the kidneys. Amyloid deposition may also occur in the GI tract, liver, spleen, heart, testes, and thyroid.
Diagnosis
Diagnosis is mainly clinical, but genetic testing is now available and is particularly useful in the evaluation of atypical cases. Nonspecific findings include elevated WBCs with neutrophil predominance, ESR, C-reactive protein, and fibrinogen. Urinary excretion of > 0.5 g protein/24 h suggests renal amyloidosis. Differential diagnosis includes acute intermittent porphyria, hereditary angioedema with abdominal attacks, relapsing pancreatitis, and other hereditary relapsing fevers.
While there's no cure for familial Mediterranean fever, there is effective treatment. The most successful treatment for familial Mediterranean fever is a drug called colchicine.
Colchicine is a drug, usually taken as a pill, which reduces inflammation in your body. Some people might need to take just one dose a day, while others might require multiple doses to prevent attacks. People who are able to "predict" an impending attack are often able to stop those attacks before they start by taking colchicine. Taking colchicine after your symptoms appear, however, isn't effective.
Reducing the frequency and intensity
When you stick to your colchicine schedule, the drug will likely reduce the frequency and intensity of your symptoms. It also lowers your risk of complications, especially amyloidosis. Colchicine can cause side effects, such as pain, tingling or numbness in your hands or feet, or muscle weakness, especially in older men who are heavy drinkers or whose kidneys aren't functioning properly. However, colchicine therapy is generally considered safe, even when taken over the course of decades. If your symptoms are not controlled by colchicine, then interferon alpha, thalidomide, etanercept, infliximab or anakinra may be recommended.
In addition to colchicine therapy, you may find that the frequency and the severity of your symptoms lessen as you age or if you become pregnant. It's not certain why symptoms may improve at either of these times, but it may be related to changes in your immune system.
Lifestyle and home remedies
These tips can help you manage familial Mediterranean fever:
- Take your medication on schedule. Sticking to your colchicine regimen is crucial for relieving your symptoms and preventing complications. Taking colchicine on a regular schedule may also reduce side effects of the medication. Tricks to help you remember to take your medicine — such as taking it right after you brush your teeth or tacking a note to the refrigerator door — may prove helpful.
- Discuss pregnancy with your doctor. If you'd like to start a family, talk to your doctor about how you can increase the chances that your baby will be healthy. Fortunately, colchicine therapy isn't associated with an increased risk of infertility or of abnormalities in a developing baby.
- Fine-tune your diet. Some people with FMF notice that their attacks are lessened by following a low-fat diet. One side effect of colchicine therapy is lactose intolerance, so if you experience abdominal discomfort, such as bloating, a lactose-free diet may improve your symptoms.
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