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Endocrine Abstracts (2018) 59 CC10 | DOI: 10.1530/endoabs.59.CC10

SFEBES2018 Featured Clinical Cases Featured Clinical Cases (10 abstracts)

Thyroid hormone pattern in Familial Dysalbuminemic Hyperthyroxinemia (R218H mutation) on different assay platforms

Serena Khoo 1 , Greta Lyons 1 , Anne McGowan 1 , Mark Gurnell 1 , Susan Oddy 2 , David Halsall 2 , Krishna Chatterjee 1 & Carla Moran 1


1Wellcome-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK; 2Department of Clinical Biochemistry, Addenbrooke’s Hospital, Cambridge, UK.


Introduction: Familial dysalbuminemic hyperthyroxinemia (FDH) is characterized by artefactual hyperthyroxinemia caused by enhanced binding affinity of thyroxine to the mutant albumin. However little is known about how FDH affects the measurement of thyroid hormones, especially FT3, across many assay platforms.

Methods: Forty-eight genetically confirmed FDH patients (R218H mutation) had FT4 and FT3 measured with 1-step (ADVIA CENTAUR®, Siemens IMMULITE® 2500, Roche ELECSYS E170) and 2-step (DELFIA®, Abbott Diagnostics (ARCHITECT®), VITROS, DIASORIN and BECKMAN) assays. Measured levels were compared to the upper limit of reference range. Patients with concomitant thyroid disease and assay interference were excluded.

Results: Both FT4 was raised in the majority of platforms (CENTAUR® 78.8–198.1% ULN, IMMULITE® 65.6–85.5% ULN, Roche 64.5–182.7% ULN, DELFIA® 62–132% ULN), as was FT3 (CENTAUR® 53.8–150.8% ULN, IMMULITE® 57.7–114.8% ULN, Roche 38.2–120.6% ULN, DELFIA 57.3–114.7% ULN). 100% denotes upper limit of reference range.

Table 1 Results of Free T4 and Free T3 in FDH expressed as % above upper limit (ULN) of reference range across different assays
ASSAYSn% FT4 Results Above ULNn% FT3 Results Above ULN
ADVIA CENTAUR®4887.54440.9
Siemens IMMULITE®70714.2
Roche ELECSYS1492.81330.7
DELFIA®4847.93625
Abbott ARCHITECT®875825
VITROS7070
DIASORIN7070
BECKMAN8100

Conclusion: Thyroid hormone measurements in FDH vary depending on assay performed. Siemens IMMULITE®, DIASORIN, and perhaps DELFIA® return FT4 levels nearer the normal range, while VITROS underestimates measurements. In contrast, results from Roche Elecsys, Beckman, Abbott ARCHITECT® and ADVIA Centaur® are markedly abnormal. Notably, FT3 levels are abnormal in up to 41% of patients, raising the possibility of confusion with TSHomas or Resistance to Thyroid Hormone.

Volume 59

Society for Endocrinology BES 2018

Glasgow, UK
19 Nov 2018 - 21 Nov 2018

Society for Endocrinology 

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