Hydrocortisone Ameliorated the Pericarditis of Familial Mediterranean Fever with Isolated ACTH Deficiency: A Case Report

Presentation Number: LB SUN 52
Date of Presentation: April 2nd, 2017

Eriko Terada*1, Kenji Ashida1, Seiichi Yano1, Hiroshi Tadakuma1, Hiromi Nagata1, Shingo Shimada2, Shohei Sakamoto1 and Masatoshi Nomura1
1Kyushu University Hospital, 2Department of Endocrine and Metabolic Diseases, Kyushu University Hospital


Background: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in the inflammasome adaptor Pyrin, and is often described with recurrent serositis including pericarditis. Colchicine, microtubule-depolymerizing drug, is known to ameliorate the inflammation in FMF, while the effect of glucocorticoid (GC) is less understood. Here we report a case of FMF with isolated ACTH deficiency whose pericarditis was ameliorated by hydrocortisone (HC) replacement. 

Clinical case: A 35-year-old man was referred to our hospital with subacute onset of chest pain and fever. He had been treated with HC (15 mg/day) as a hormone replacement therapy since he was diagnosed as isolated ACTH deficiency at 24 years old. It is noted that he had failed to take his daily HC properly for a few months before hospitalization. Ultrasonography and CT scan revealed pericardial effusion, thickened pleura and pericardium. He was diagnosed as acute pericarditis and adrenal insufficiency. These symptoms disappeared with HC infusion (100 mg/day) within a couple of days. However, he had recurrences of pericarditis twice within a year after discharge. The laboratory data on last attack was as follows; WBC 7240 /μL (neutrophil: 72%), CRP 3.41 mg/dL, IL-6 456 pg/mL. His DNA analysis revealed compound heterogeneous mutations in exon 1 and 2 of MEFV gene that encodes Pyrin (E84K and E184Q). Based on his clinical manifestation and DNA analysis, he was diagnosed as FMF. Thereafter colchicine (1 mg/day) was added to his prescription. It relieved the recurrence of FMF attack for the next 20 months. However, the discontinuation of adequate HC replacement due to his poor adherence resulted in recurrences of FMF attack. To our best knowledge, this is the first case of FMF along with ACTH deficiency. It was suggested that adrenal insufficiency presumably deteriorated FMF inflammation that can be ameliorated by the physiological dose of HC. Although pharmacological dose of GC is known to be ineffective for FMF in general, therapeutic effect of GC was reported in a case of the early stage of serositis. On the acute phase of FMF, increased IL-6 has shown to activate HPA axis followed by increase of cortisol acting as a self-limiting factor. In this case, however, the patient’s defective HPA axis was unable to respond to IL-6, and presumably lead to exacerbation of the inflammation. Considering that the FMF attack recurred in parallel with his adrenal insufficiency, GC may play a role to prevent FMF attack. A further investigation will be needed to clarify the physiological relevance of GC in the FMF.

Conclusion: This is a first case of FMF with ACTH deficiency. HC replacement possibly ameliorated the inflammation for FMF.


Disclosure: MN: , ONO-Pharma. Nothing to Disclose: ET, KA, SY, HT, HN, SS, SS