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Euthyroid familial hyperthyroxinemia due to abnormal thyroid hormone-binding protein.

G C Borst, B N Premachandra, K D Burman

The American Journal of Medicine

|August 1, 1982

Summary

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Familial hyperthyroxinemia can occur in euthyroid individuals due to abnormal thyroid hormone-binding proteins. Elevated thyroxine levels alone do not always indicate thyrotoxicosis.

Area of Science:

Endocrinology
Clinical Biochemistry
Human Genetics

Background:

Familial hyperthyroxinemia is a rare condition characterized by elevated serum thyroxine levels.
Distinguishing true thyrotoxicosis from familial hyperthyroxinemia is crucial for appropriate patient management.

Observation:

Three family members presented with elevated total serum thyroxine and free thyroxine index.
Affected individuals were clinically euthyroid with normal triiodothyronine and thyroxine-binding globulin (TBG) levels.

Findings:

Serum electrophoresis revealed increased thyroxine binding in the albumin region, indicating an abnormal binding protein.
This abnormal protein bound triiodothyronine and reverse triiodothyronine, similar to TBG.
Sialidase digestion suggested the abnormal protein is not a variant of TBG.

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Implications:

These findings highlight that elevated thyroxine levels and free thyroxine index are insufficient to diagnose thyrotoxicosis.
The study identifies a novel cause of euthyroid familial hyperthyroxinemia due to an abnormal thyroid hormone-binding protein.
This underscores the importance of comprehensive thyroid function testing beyond basic hormone levels.