Familial dysalbuminemic hyperthyroxinemia: cumulative experience in 29 consecutive patients.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
A E HeufelderH Gharib

Abstract

The syndrome of familial dysalbuminemic hyperthyroxinemia (FDH), an inherited abnormality characterized by the presence of a variant serum albumin with preferential affinity for T4, is recognized with increasing frequency as a cause of elevated total and free T4 serum values in clinically euthyroid patients with normal TSH levels. Hyperthyroxinemia caused by this syndrome is occasionally confused with hyperthyroidism or thyroid hormone resistance syndromes, which may prompt unnecessary treatment. To better define the clinical and biochemical characteristics of patients with FDH, we undertook a retrospective analysis of the experience at our institution with this condition. We reviewed our cumulative experience in 29 consecutive patients with FDH diagnosed between 1970 and 1991. FDH was diagnosed in 18 males and 11 females (mean age, 42.7 years) on the basis of clinical euthyroidism, increased total T4 and increased/normal free T4 serum values, normal T3 and TSH serum values, increased T4 binding to serum albumin, and low/normal T4 binding to T4-binding globulin and serum prealbumin. Clinical thyroid examination revealed no abnormalities except for goitre in five patients, and the results of radioiodine uptake studies were norma...Continue Reading

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Citations

Aug 14, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jonathan S BergJames P Evans
Mar 10, 2015·Endocrine Reviews·Marco MediciRobin P Peeters
Jun 15, 2006·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Huy A Tran

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