Researchers Report Rare Case of Sarcoidosis Patient with Familial Mediterranean Fever

A woman in Turkey with a 10-year history of sarcoidosis was given the additional diagnosis of familial Mediterranean fever (FMF), a heritable disease that rarely occurs simultaneously with sarcoidosis.

The case report, “Coexistence of sarcoidosis and Familial Mediterranean Fever,” was published in the journal Reumatología Clínica.

Sarcoidosis is a chronic inflammatory disease and its cause is still unknown. In contrast, FMF is caused by specific gene mutations. The condition involves recurrent fever and polyserositis attacks (inflammation of the membranes that line the chest, abdomen, and joints, with accumulation of fluid in the cavities).

FMF is caused by a mutation in the Mediterranean fever gene (MEFV) from which the protein pyrin, also called marenostrin, is produced. It is a naturally occurring protein found in some white blood cells.

The patient was a 50-year old woman who was admitted to a rheumatology clinic with signs of fatigue, recurrent fever, dry cough, and arthralgia (joint pain). During her examination, she described recurrent abdominal pain and fever attacks she has had since childhood.

She knew of no family history of FMF, and she could not identify family members with the condition.

Her medical file showed that the patient had been diagnosed with sarcoidosis 10 years earlier. Upon the diagnosis, the patient was treated for her sarcoidosis for two years with corticosteroids, but she had not returned for follow-up appointments after this period.

A medical work-up was done and the results showed stage 1 sarcoidosis. In addition, gene testing was performed for FMF and the result was positive.

The patient was prescribed nonsteroidal anti-inflammatory drugs (NSAIDs) and Colchicine 0.5 mg tablets three times daily (Colchichine is a FMF therapy). Her clinical symptoms subsided after three months, and the patient no longer had abdominal pain or fever attacks. Acute phase reactant levels (a test for ongoing inflammation) were normal.

Authors of the study believe that, based on the fact that both sarcoidosis and FMF are chronic inflammatory diseases, there may be a common pathway contributing to both conditions.

“In conclusion, the coexistence of sarcoidosis and FMF have been reported in few cases in the literature. The fact that both diseases are chronic and inflammatory suggesting the possibility of common etiopathogenesis and/or coincidence. New studies are necessary for investigation of this subject,” the researchers concluded.