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Hyperthyroxinemia, familial dysalbuminemic(FDAH)

MedGen UID:
90974
Concept ID:
C0342185
Disease or Syndrome
Synonyms: EUTHYROID HYPERTHYROXINEMIA 1; FDAH
SNOMED CT: Familial dysalbuminemic hyperthyroxinemia (237547004)
 
Gene (location): ALB (4q13.3)
 
Monarch Initiative: MONDO:0014448
OMIM®: 615999
Orphanet: ORPHA276271

Definition

Familial dysalbuminemic hyperthyroxinemia (FDAH) is an autosomal dominant condition characterized by the presence of a variant serum albumin with preferential affinity for thyroxine (T4) in clinically euthyroid individuals. Individuals have consistently elevated total T4 and elevated or normal free T4 values with normal TSH levels. FDAH is the most commonly inherited euthyroid hyperthyroxinemia in Caucasian populations with an estimated prevalence of 1 in 10,000 individuals. The condition does not cause disease since the concentration of free hormone is normal, but affected individuals may be at risk for unnecessary laboratory testing and possibly even inappropriate treatment (summary by Heufelder et al., 1995 and Kragh-Hansen et al., 2017). [from OMIM]

Clinical features

From HPO
Euthyroid hyperthyroxinemia
MedGen UID:
867191
Concept ID:
C4021549
Disease or Syndrome
Increased levels of thyroxine without evidence of clinical thyroid disease.
Abnormal thyroid-stimulating hormone level
MedGen UID:
1384219
Concept ID:
C4476968
Finding
Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.
Abnormal circulating free T4 concentration
MedGen UID:
1732628
Concept ID:
C5421590
Finding
A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects.
Increased circulating free T4 concentration
MedGen UID:
1771990
Concept ID:
C5421591
Finding
An elevated concentration of free thyroxine (fT4) in the blood circulation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperthyroxinemia, familial dysalbuminemic

Professional guidelines

PubMed

Tajima T, Jo W, Fujikura K, Fukushi M, Fujieda K
Pediatr Res 2009 Sep;66(3):312-6. doi: 10.1203/PDR.0b013e3181b1bcbd. PMID: 19542904
Petersen CE, Ha CE, Harohalli K, Park DS, Feix JB, Isozaki O, Bhagavan NV
Clin Chem 1999 Aug;45(8 Pt 1):1248-54. PMID: 10430791

Recent clinical studies

Etiology

Turkkahraman D, Gullu M, Tekin S, Kalkan T
J Pediatr Endocrinol Metab 2024 Jun 25;37(6):532-535. Epub 2024 May 14 doi: 10.1515/jpem-2023-0506. PMID: 38736368
Lai S, Gopalakrishnan G, Li J, Liu X, Chen Y, Wen Y, Zhang S, Huang B, Phornphutkul C, Liu S, Kuang J
Am J Med Sci 2020 Nov;360(5):566-574. Epub 2020 May 28 doi: 10.1016/j.amjms.2020.05.035. PMID: 32665066

Diagnosis

Zhao L, Zhou Y, Huang F, He X, Mei G, Wang S, Zhao Y
Front Endocrinol (Lausanne) 2023;14:1102777. Epub 2023 Feb 14 doi: 10.3389/fendo.2023.1102777. PMID: 36864842Free PMC Article
Lai S, Gopalakrishnan G, Li J, Liu X, Chen Y, Wen Y, Zhang S, Huang B, Phornphutkul C, Liu S, Kuang J
Am J Med Sci 2020 Nov;360(5):566-574. Epub 2020 May 28 doi: 10.1016/j.amjms.2020.05.035. PMID: 32665066
Kobayashi S, Yoshimura Noh J, Shimizu T, Sato T, Kurihara I, Sugino K, Itoh H, Ito K
Endocr J 2017 Feb 27;64(2):207-212. Epub 2016 Nov 30 doi: 10.1507/endocrj.EJ16-0135. PMID: 27904073
Ryan JB, Brennan SO, Potter H, Wolmarans L, Florkowski CM, George PM
Ann Clin Biochem 2016 Jul;53(Pt 4):504-7. Epub 2015 Jul 13 doi: 10.1177/0004563215598168. PMID: 26169058
Pappa T, Ferrara AM, Refetoff S
Best Pract Res Clin Endocrinol Metab 2015 Oct;29(5):735-47. Epub 2015 Sep 30 doi: 10.1016/j.beem.2015.09.002. PMID: 26522458Free PMC Article

Therapy

Li Y, Chi Y, Chai X, Liu H, Li N, Lian X
BMC Endocr Disord 2023 Oct 18;23(1):226. doi: 10.1186/s12902-023-01481-5. PMID: 37853391Free PMC Article
Fukaishi T, Sekiguchi Y, Hara Y
Intern Med 2017 Aug 15;56(16):2175-2180. Epub 2017 Aug 1 doi: 10.2169/internalmedicine.8619-16. PMID: 28781323Free PMC Article

Prognosis

Turkkahraman D, Gullu M, Tekin S, Kalkan T
J Pediatr Endocrinol Metab 2024 Jun 25;37(6):532-535. Epub 2024 May 14 doi: 10.1515/jpem-2023-0506. PMID: 38736368
Abali S, Yavas Abali Z, Yararbas K, Semiz S
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1201-1205. Epub 2021 Jun 18 doi: 10.1515/jpem-2021-0087. PMID: 34142517
Lai S, Gopalakrishnan G, Li J, Liu X, Chen Y, Wen Y, Zhang S, Huang B, Phornphutkul C, Liu S, Kuang J
Am J Med Sci 2020 Nov;360(5):566-574. Epub 2020 May 28 doi: 10.1016/j.amjms.2020.05.035. PMID: 32665066
Schoenmakers N, Moran C, Campi I, Agostini M, Bacon O, Rajanayagam O, Schwabe J, Bradbury S, Barrett T, Geoghegan F, Druce M, Beck-Peccoz P, O'Toole A, Clark P, Bignell M, Lyons G, Halsall D, Gurnell M, Chatterjee K
J Clin Endocrinol Metab 2014 Jul;99(7):E1381-6. Epub 2014 Mar 19 doi: 10.1210/jc.2013-4077. PMID: 24646103Free PMC Article

Clinical prediction guides

Mimoto MS, Karaca A, Scherberg N, Dumitrescu AM, Refetoff S
Thyroid 2018 Jun;28(6):811-814. Epub 2018 May 24 doi: 10.1089/thy.2017.0564. PMID: 29676214Free PMC Article
Cho YY, Song JS, Park HD, Kim YN, Kim HI, Kim TH, Chung JH, Ki CS, Kim SW
Ann Lab Med 2017 Jan;37(1):63-65. doi: 10.3343/alm.2017.37.1.63. PMID: 27834068Free PMC Article
Schoenmakers N, Moran C, Campi I, Agostini M, Bacon O, Rajanayagam O, Schwabe J, Bradbury S, Barrett T, Geoghegan F, Druce M, Beck-Peccoz P, O'Toole A, Clark P, Bignell M, Lyons G, Halsall D, Gurnell M, Chatterjee K
J Clin Endocrinol Metab 2014 Jul;99(7):E1381-6. Epub 2014 Mar 19 doi: 10.1210/jc.2013-4077. PMID: 24646103Free PMC Article

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