Unusual clinical course, Unusual or unexpected effect of treatment
Kenji Ashida, Eriko Terada, Ayako Nagayama, Shohei Sakamoto, Nao Hasuzawa, Masatoshi Nomura
Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka City, Fukuoka, Japan
Am J Case Rep 2020; 21:e920983
Available online: 2020-02-10
Familial Mediterranean fever is an auto-inflammatory disease caused by pyrin mutations. Glucocorticoids inhibit the production and secretion of inflammatory cytokines, including IL-6 and IL-1ß, from inflammatory cells and suppress the activation of nuclear factor-kappaB in the nucleus. However, the functions of physiological glucocorticoids in the disease remain unknown.
CASE REPORT: We report the case of a Japanese man with familial Mediterranean fever complicated by isolated adrenocorticotropic hormone deficiency. Patient non-compliance with hydrocortisone replacement therapy led to a series of pericarditis and fever episodes. Subsequently, the regular administration of colchicine alone could not prevent auto-inflammation. The clinical course of treatment suggested that the absence of physiological levels of glucocorticoids is crucial for familial Mediterranean fever attacks. Because familial Mediterranean fever is a pyrin abnormality-induced auto-inflammatory disease that subsequently activates cytokines via the nucleotide-binding domain, leucine-rich repeat/pyrin domain-containing 3 inflammasomes and the absence of glucocorticoids can exacerbate the severity of the auto-inflammatory disease.
CONCLUSIONS: Physiological glucocorticoid levels appear to be essential for the regulation of inflammasome activation via IL-6-negative regulation. However, pharmacological levels of glucocorticoids are not currently used for the prevention of familial Mediterranean fever attacks. Physicians should be aware of adrenal insufficiency as a possible disorder when they encounter cases of refractory familial Mediterranean fever.
Keywords: adrenal insufficiency, Colchicine, Familial Mediterranean Fever, Glucocorticoids