Familial dysalbuminemic hyperthyroxinemia combined with Graves’ disease: A case report and literature review

Abstract

Abstract Background: Familial dysalbuminemic hyperthyroxinemia (FDH) is a dominantly inherited disease characterized by abnormally increased affinity of albumin for serum thyroxine. Assay interference and differential diagnosis remain challenges for FDH. The condition becomes more complicated when FDH combined with primary thyroid diseases. The co-occurrence of FDH and Graves’ disease is one of the rare cases. Case presentation: We reported a 28-year-old woman with a complex condition of FDH coexisted with Graves’ disease. The existence of FDH was not recognized at first. And the Graves’ disease was relieved after treatment with antithyroid drugs and two times of radioactive iodine therapy. Then she developed to primary hypothyroidism and received levothyroxine replacement. But the thyroid function failed to reach normal despite of frequent adjustment of levothyroxine. Finally, syndromes of inappropriate secretion of thyroid stimulating hormone (IST) were considered and FDH was successfully distinguished from other causes of IST. Conclusions: More attention should be paid to FDH when investigating the causes of IST. Early recognition of FDH is critical to rightly evaluate the thyroid function status and avoid inappropriate treatment, especially in complicated cases with concurrent FDH and primary thyroid diseases.