ArticleBMC endocrine disorders2023
Familial dysalbuminemic hyperthyroxinemia combined with Graves' disease: a rare case report.
Article in BMC endocrine disorders, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- Differential diagnosis of familial dysalbuminemic hyperthyroxinemia , RTH, and TSHomas: A single-center retrospective analysis.Endocrine · 2026Article
- Familial dysalbuminemic hyperthyroxinemia: 2 Indian cases with a novelJCEM case reports · 2026Article
- Coexistence of familial dysalbuminemic hyperthyroixinemia and papillary thyroid carcinoma: a rare case report and diagnostic challenge.Therapeutic advances in endocrinology and metabolism · 2025Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
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Abstract
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 PRESENTATION: 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.
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.
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