Endocrine Abstracts

Introduction: Recent studies demonstrate decrease in vitamin D3 level and bone mineral density in more than 50% of type 1 diabetes (T1DM) patients. It is also suggested that vitamin D deficiency in familial mediterranean fever (FMF) patients may trigger the disease flare. These patients are at high-risk of other autoimmune diseases, as well as described combination of FMF, celiac disease, and autoimmune thyroiditis. However, there are only two case reports on combination of FMF and T1DM. We present a case of concomitant T1DM and FMF in a child and evaluate the features of bone metabolism in this rare pathological combination.

Case report: A 5-year-old boy, suffering from T1DM about 3 years, was diagnosed with FMF ~1.5 years ago. Within a year after the manifestation of T1DM he experienced recurrent abdominal and bilateral lower extremity pains, making it difficult to compensate glucose as the child was malnourished. Ca²⁺ was 1.15 mmol/l, vitamin D3 4.0 ng/ml, and PTH 42.9 pg/ml were identified. FMF was diagnosed by identifying two gene mutations in the compound heterozygous state V726A/M680I. D hypovitaminosis was found. Celiac disease was excluded. The patient is currently on insulin and colchicine therapy, supplemental vitamin D3 and calcium. During this treatment pain gradually improved, allowing for appropriate correction of diabetes. On vitamin D3 treatment 500 IU/daily for 1 year, serum level improved to 15.64 ng/ml, Ca²⁺ was 1.12 mmol/l, Ca urine/daily 1.63 nmol/l.

Conclusions: Taking into consideration that the average annual duration of Sunshine Hoursin Armenia is 2350, and number of cloudy days is 42, we can assume that a low level of vitamin D3 in this child was due to a combination of FMF and T1DM. Further studies with larger patient populations are needed to investigate if the vitamin D deficiency in patients with T1DM and FMF is more profound compared to isolated T1DM or FMF.