AUTHOR=Kragh-Hansen Ulrich , Galliano Monica , Minchiotti Lorenzo TITLE=Clinical, Genetic, and Protein Structural Aspects of Familial Dysalbuminemic Hyperthyroxinemia and Hypertriiodothyroninemia JOURNAL=Frontiers in Endocrinology VOLUME=8 YEAR=2017 URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2017.00297 DOI=10.3389/fendo.2017.00297 ISSN=1664-2392 ABSTRACT=
Familial dysalbuminemic hyperthyroxinemia (FDH-T4) and hypertriiodothyroninemia (FDH-T3) are dominantly inherited syndromes characterized by a high concentration of thyroid hormone in the blood stream. The syndromes do not cause disease, because the concentration of free hormone is normal, but affected individuals are at risk of erroneous treatment. FDH-T4 is the most common cause of euthyroid hyperthyroxinemia in Caucasian populations in which its prevalence is about 1 in 10,000 individuals, but the prevalence can be much higher in some ethnic groups. The condition is caused by a genetic variant of human serum albumin (HSA); Arg218 is mutated to histidine, proline, or serine or Arg222 is changed to isoleucine. The disorder is characterized by greater elevation in serum