Department of Endocrinology, Key Laboratory of Endocrinology of National Health Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
BMC Endocr Disord. 2023 Oct 18;23(1):226. doi: 10.1186/s12902-023-01481-5.
Familial 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.
We 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.
A 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.
家族性白蛋白结合甲状腺素增多症（FDH）是一种常染色体显性疾病，其特征是白蛋白对血清甲状腺素的亲和力异常增加。FDH 的检测干扰和鉴别诊断仍然具有挑战性。当 FDH 与原发性甲状腺疾病合并存在时，情况更为复杂。FDH 与格雷夫斯病同时发生的情况很少见。
我们报告了一例 28 岁患有复杂 FDH 合并格雷夫斯病的女性病例。最初，并未发现 FDH 的存在。抗甲状腺药物和两次放射性碘治疗后，格雷夫斯病得到缓解。随后，她出现原发性甲状腺功能减退症，并接受左甲状腺素替代治疗。然而，尽管频繁调整左甲状腺素剂量，甲状腺功能仍未恢复正常。最终，考虑到涉及促甲状腺激素（TSH）不适当分泌的综合征，并成功将 FDH 与其他 TSH 异常的病因区分开来。
在调查 TSH 异常的病因时，更加关注 FDH 对于正确评估甲状腺功能状态和避免不适当的治疗至关重要，尤其是在伴有 FDH 和原发性甲状腺疾病的复杂病例中。
