PMID: 3767254Jan 1, 1986Paper

Thyroid function tests in patients with familial dysalbuminaemic hyperthyroxinaemia (FDH)

Annals of Clinical Biochemistry
M F StewartI Roberts

Abstract

Two patients with familial dysalbuminaemic hyperthyroxinaemia (FDH) are described in whom the albumin variant resulted in raised total T4 levels, and artefactually raised free T4 using a 'single-step' technique employing an analogue of T4 as tracer. The first patient was clinically euthyroid and presented with relapse of schizophrenia and abnormal thyroid function tests (total T4 336 nmol/L, total T3 4.2 nmol/L, TSH 1.8 mU/L, free T4 73 pmol/L). These results led to diagnostic confusion and the patient was treated with a short course of anti-thyroid drugs. The second patient had signs and symptoms of thyrotoxicosis at her first visit but was clinically euthyroid 5 months later when she was 10 weeks pregnant. Thyroid function tests were total T4 259 nmol/L, total T3 3.6 nmol/L, TSH 3.8 mU/L, free T4 46 pmol/L. Further studies showed both patients to be biochemically euthyroid. A variant albumin was confirmed in both patients by a screening test for FDH and by reverse-flow electrophoresis. Family studies on 10 relatives of the first patient identified eight with FDH. A simple screening procedure for the indentification of FDH is described and the use of laboratory tests in suspected cases is discussed.

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Citations

Sep 18, 2001·Lancet·C M Dayan
Apr 1, 1987·Postgraduate Medical Journal·S J FlemingC G Beardwell
Mar 21, 2001·Archives of Medical Research·S DodigK Branovic
Mar 22, 2014·The Journal of Clinical Endocrinology and Metabolism·Nadia SchoenmakersKrishna Chatterjee
Apr 30, 2008·Clinical Chemistry·Soha A ZouwailJoe P Begley
Oct 1, 1993·Diabetic Medicine : a Journal of the British Diabetic Association·T HauserD J Chisholm
Oct 1, 1995·Medical Informatics = Médecine Et Informatique·E D Lehmann, T Deutsch
Oct 1, 1995·Medical Informatics = Médecine Et Informatique·E D Lehmann, T Deutsch
Jan 1, 1995·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·A E HeufelderH Gharib
Dec 10, 1999·Annals of Clinical Biochemistry·C Selby

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