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Familial dysalbuminemic hyperthyroxinemia.

I W Jensen, J Faber

    Acta Medica Scandinavica
    |January 1, 1987
    PubMed
    Summary
    This summary is machine-generated.

    Familial dysalbuminemic hyperthyroxinemia is an autosomal dominant condition causing high thyroxine levels due to increased albumin binding. This harmless genetic disorder requires accurate diagnosis using ultrasensitive TSH to avoid misinterpreting results as thyrotoxicosis.

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    Area of Science:

    • Endocrinology
    • Genetics
    • Clinical Biochemistry

    Background:

    • Familial dysalbuminemic hyperthyroxinemia (FDH) is a genetic disorder affecting thyroid hormone transport.
    • Characterized by elevated serum thyroxine (T4) levels due to increased binding affinity of albumin for T4.
    • Serum triiodothyronine (T3) levels are typically normal in affected individuals.

    Purpose of the Study:

    • To describe a family exhibiting familial dysalbuminemic hyperthyroxinemia.
    • To highlight the diagnostic challenges and potential for misdiagnosis of thyrotoxicosis.
    • To emphasize the utility of sensitive thyroid-stimulating hormone (TSH) assays in correct diagnosis.

    Main Methods:

    • Autosomal dominant inheritance pattern observed in the described family.

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  • Measurement of serum thyroxine, triiodothyronine, and free thyroxine levels.
  • Comparison of free thyroxine measurements using equilibrium dialysis/ultrafiltration versus analogue assays.
  • Utilized ultrasensitive thyroid-stimulating hormone (TSH) assays for diagnostic discrimination.

    • Main Results:

    • Marked elevation of total serum thyroxine with normal serum triiodothyronine.
    • Normal serum free thyroxine by ultrafiltration/equilibrium dialysis, but artifactually high by analogue assay.
    • Ultrasensitive TSH assays successfully differentiated euthyroid subjects with FDH from hyperthyroid patients.

    Conclusions:

    • FDH is a benign, inherited condition that can be mistaken for thyrotoxicosis.
    • Accurate diagnosis relies on understanding altered T4-binding to albumin and employing appropriate free T4 measurement methods.
    • Ultrasensitive TSH testing is crucial for correctly identifying euthyroid individuals with FDH, preventing unnecessary treatment.