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Misleading thyroid function tests in congenital dysfibrinogenemia.

Angela D Burns1, Christina Kanonidou1, Jane McNeilly1

  • 1The Department of Clinical Biochemistry, Queen Elizabeth University Hospital, Glasgow, UK.

Annals of Clinical Biochemistry
|June 6, 2024
PubMed
Summary
This summary is machine-generated.

Congenital dysfibrinogenemia (CD) can cause inaccurate thyroid function tests (TFTs) due to latent fibrin clots in serum. Plasma testing offers more reliable results for patients with this genetic fibrinogen disorder.

Keywords:
Thyroid function testscongenital dysfibrinogenemiadiscordant resultsimmunoassayinterference

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Area of Science:

  • Clinical Chemistry
  • Hematology
  • Endocrinology

Background:

  • Pre-analytical factors like latent fibrin clots significantly impact immunoassay accuracy.
  • Graves' disease and congenital dysfibrinogenemia (CD) can present with discordant thyroid function test (TFT) results.
  • CD is a genetic disorder affecting fibrinogen structure and function, often asymptomatic.

Purpose of the Study:

  • To report a case of Graves' disease with CD leading to erroneous serum TFTs.
  • To investigate the link between CD and unreliable immunoassay results.
  • To highlight the importance of recognizing CD in interpreting discordant TFTs.

Main Methods:

  • Case study of a patient with Graves' disease and CD.
  • Comparison of TFT results from serum versus plasma samples.
  • Analysis of multiple CD patient cases with similar genetic mutations and discordant TFTs.

Main Results:

  • Serum TFTs in patients with CD were inaccurate and inconsistent with clinical presentation.
  • Plasma samples yielded more reliable TFT results compared to serum samples.
  • A specific genetic mutation in fibrinogen was common among affected patients.

Conclusions:

  • Latent fibrin formation in serum due to CD can interfere with immunoassays, causing antigen binding site blockage.
  • Discordant TFTs may be the initial indicator of undiagnosed CD.
  • Recognizing CD is crucial to prevent misdiagnosis, unnecessary investigations, and inappropriate treatments.