Treating Colchicine-Resistant Familial Mediterranean Fever : Alternative Medications Can Succeed

In an article from the Orphanet Journal of Rare Diseases, a recent study provides an overview of the treatment of familial Mediterranean fever (FMF) that does not respond to the standard treatment for the disease, colchicine. The authors say that colchicine still remains the front-line treatment for this rare disease, but in cases where it is ineffective, alternative treatments must be pursued. On the whole, this search for effective treatment alternatives has been largely successful. 

About Familial Mediterranean Fever (FMF)

Familial Mediterranean fever is an inherited, inflammatory illness. While it has been given many different names, the name familial Mediterranean fever refers to the fact that the most commonly occurs in ethnic groups that are from the Mediterranean area, such as Greeks, Turks, Arabs, and Italians. It is caused by a genetic mutation. Symptoms occurs in periodic attacks that can affect varying parts of the body. Patients typically experience their first attack before adulthood. Abdominal attacks cause acute abdominal pain and inflammation of the abdominal lining; similar attacks of pain and inflammation can occur in the joints, chest, and scrotum. Rashes, muscle pain, and fever also occur. Amyloidosis with kidney failure can occur during an attack, and constitutes a medical emergency. To learn more about familial Mediterranean fever, click here.

Finding Alternative Therapies

Though generally considered uncommon, familial Mediterranean fever is considered the most common autoinflammatory illness in the world. Colchicine has been the standard treatment for the disease since 1972 and has continued in this role into the present day. While effective in many cases, colchicine use is also associated with serious side effects and can be risky for patients with kidney or liver problems. A small percentage of patients fail to respond, others cannot use the drug due to gastrointestinal intolerance, and about a third of patients only have a partial response to treatment. So what are the alternatives?

Research has shown that drugs that inhibit IL-1, IL-6, and TNF can be effective treatments for familial Mediterranean fever that does not remit with colchicine. Many patients and carriers show elevated levels of TNF, IL-1, and IL-6, making them natural therapeutic targets. An example of an IL-1 inhibitor is canakinumab, which is approved for colchicine-resistant familial Mediterranean fever in the US. Examples of TNF inhibitors that have been documented to be useful include infliximab and adalimumab. An IL-6 inhibitor that has show efficacy is tocilizumab. Patients have also been successfully treated with the Janus kinase inhibitor drug tofacitinib.

It is clear that there are a number of alternative treatments that can help patients who do not respond to colchicine as a monotherapy. The authors recommend that these drugs be tried in combination with colchicine if possible.


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