Familial dysalbuminemic hyperthyroxinemia combined with Graves' disease: a rare case report

BackgroundFamilial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant disease characterised by an abnormally increased affinity of albumin for serum thyroxine. Assay interference and differential diagnosis remain challenging for FDH. The condition is more complicated when FDH is combined with primary thyroid diseases. Co-occurrence of FDH and Graves' disease is rare.Case presentationWe report the case of a 28-year-old woman with complex FDH and coexisting Graves' disease. Initially, the existence of FDH was not recognised. Graves' disease was relieved after treatment with antithyroid drugs and two administrations of radioactive iodine therapy. She subsequently developed primary hypothyroidism and was prescribed levothyroxine replacement. However, thyroid function failed to normalise despite frequent levothyroxine dose adjustments. Ultimately, syndromes involving the inappropriate secretion of thyroid-stimulating hormone (IST) were considered, and FDH was successfully differentiated from other causes of IST.ConclusionsA greater focus on FDH when investigating the causes of IST is critical to correctly evaluate thyroid function status and avoid inappropriate treatment, especially in complicated cases with concurrent FDH and primary thyroid diseases.

Automated summary

Greater focus on FDH is critical when investigating the causes of inappropriate secretion of thyroid-stimulating hormone (IST), especially in cases with concurrent FDH and primary thyroid diseases. This case report highlights the challenges in recognising and managing FDH, as well as the importance of correctly evaluating thyroid function status to avoid inappropriate treatment.