Familial Dysalbuminemic Hyperthyroxinemia

Authors:
  • MRMiguel Ruiz
    Miguel Ruiz
  • RRRajata Rajatanavin
    Rajata Rajatanavin
  • RYRuth A. Young
    Ruth A. Young
  • CTCharles Taylor
    Charles Taylor
  • RBRosalind Brown
    Rosalind Brown
  • SISidney H. Ingbar
    Sidney H. Ingbar
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Abstract
We investigated 15 euthyroid patients from eight families with a recently recognized syndrome, familial dysalbuminemic hyperthyroxinemia (FDH), that could be mistaken for thyrotoxicosis. The syndrome is characterized by elevations in serum thyroxine and the free-thyroxine index (FT4I), which are due to an abnormal serum albumin that preferentially binds thyroxine. This albumin has an abnormal binding site with a much greater affinity for thyroxine (relative to its affinity for triiodothyronine) than that of the hormone-binding site on thyroxine-binding globulin. Results of thyrotropin-releasing hormone and thyroid-suppression tests, as well as direct measurements of the free-thyroxine concentration by equilibrium dialysis, are normal in these patients, although the serum triiodothyronine concentration may be slightly elevated. Although its prevalence is uncertain, FDH may be more common than suspected; we have seen 26 cases within the past year. (N Engl J Med. 1982; 306:635–9.)

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