A case report of a boy suffering from type 1 diabetes mellitus and familial Mediterranean fever

Abstract

Background Type 1 diabetes mellitus could be associated with other autoimmune diseases, such as autoimmune thyroid disease, celiac disease, but the association with Familial Mediterranean Fever is rare, we describe a case of a boy with type 1 Diabetes Mellitus associated with Familial Mediterranean Fever (FMF). Case presentation A 13 year old boy already suffering from Diabetes Mellitus type 1 since the age of 4 years, came to our attention because of periodic fever associated with abdominal pain, chest pain and arthralgia. The fever appeared every 15–30 days with peaks that reached 40 °C and lasted 24–48 h. Laboratory investigation, were normal between febrile episodes, but during the attacks revealed an increase in inflammatory markers. Suspecting Familial Mediterranean Fever molecular analysis of MEFV gene, was performed. The genetic analysis showed homozygous E148Q mutation. So Familial Mediterranean Fever was diagnosed and colchicine treatment was started with good response. Conclusion Familial Mediterranean Fever could be associated with other autoimmune diseases such as Ankylosing Spondylitis, Rheumatoid Arthritis, Polyarteritis Nodosa, Behcet disease, Systemic Lupus, Henoch-Schönlein Purpura, and Hashimoto’s Thyroiditis. Association of type 1 Diabetes Mellitus and Familial Mediterranean Fever has been newly reported in the medical literature, this is the third association of these two diseases described in the medical literature so far.

Familial Mediterranean fever gene variations could trigger VPS16-associated early-onset dystonia and diabetes mellitus: clinical identification of a family with MEFV and VPS16 genetic variation association

“…Thus it can be asserted that the pathogenesis of type 1 DM and FMF involves numerous intersecting inflammatory pathways. There are three documented cases of patients with both type 1 DM and FMF [ 17–19 ]. One of these diabetic patients had undergone an appendectomy, similar to our index case [ 17 ], while another had additional autoinflammatory conditions [ 18 ].…”

“…There are three documented cases of patients with both type 1 DM and FMF [ 17–19 ]. One of these diabetic patients had undergone an appendectomy, similar to our index case [ 17 ], while another had additional autoinflammatory conditions [ 18 ]. However, these reports did not indicate whether there was a family history of diabetes.…”

Periodic Fever in Children: A Report of Three Unusual Cases

“…He was diagnosed with FMF based on the clinical criteria. Gicchino et al also investigated a 13-year-old boy with a history of T1DM for four years who presented with a periodic pattern of fever associated with abdominal pain, chest pain, and arthralgia, and had positive mutations for the MEFV gene (homozygous E148Q mutation) (16). He was initially given colchicine at @1 mg/kg.…”