Familial dysalbuminemic hyperthyroxinemia combined with Graves' disease: a rare case report.
Case report
Familial dysalbuminemic hyperthyroxinemia
Graves’ disease
Hypothyroidism
Syndromes of inappropriate secretion of thyroid stimulating hormone
Journal
BMC endocrine disorders
ISSN: 1472-6823
Titre abrégé: BMC Endocr Disord
Pays: England
ID NLM: 101088676
Informations de publication
Date de publication:
18 Oct 2023
18 Oct 2023
Historique:
received:
10
02
2023
accepted:
08
10
2023
medline:
23
10
2023
pubmed:
19
10
2023
entrez:
18
10
2023
Statut:
epublish
Résumé
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.
Sections du résumé
BACKGROUND
BACKGROUND
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.
CASE PRESENTATION
METHODS
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.
CONCLUSIONS
CONCLUSIONS
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.
Identifiants
pubmed: 37853391
doi: 10.1186/s12902-023-01481-5
pii: 10.1186/s12902-023-01481-5
pmc: PMC10583390
doi:
Substances chimiques
Thyroxine
Q51BO43MG4
Serum Albumin
0
Iodine Radioisotopes
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
226Subventions
Organisme : Chinese Academy of Medical Sciences (CAMS) Innovation Fund for Medical Science
ID : 2021-1-I2M-022
Organisme : Chinese Academy of Medical Sciences (CAMS) Innovation Fund for Medical Science
ID : 2021-1-I2M-022
Informations de copyright
© 2023. BioMed Central Ltd., part of Springer Nature.
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