Ann Lab Med.  2017 Jan;37(1):63-65. 10.3343/alm.2017.37.1.63.

First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant

• Cho YY
• Song JS
• Park HD
• Kim YN
• Kim HI
• Kim TH
• Chung JH
• Ki CS
• Kim SW

• KMID: 2373616
• DOI: http://doi.org/10.3343/alm.2017.37.1.63

Abstract

Familial dysalbuminemic hyperthyroxinemia (FDH) is an inherited disease characterized by increased circulating total thyroxine (T4) levels and normal physiological thyroid function. Heterozygous albumin gene (ALB) variants have been reported to be the underlying cause of FDH. To our knowledge, there have been no confirmed FDH cases in Korea. We recently observed a female patient with mild T4 elevation (1.2 to 1.4-fold) and variable levels of free T4 according to different assay methods. Upon Sanger sequencing of her ALB, a heterozygous c.725G>A (p.Arg242His) variant was identified. The patient's father and eldest son had similar thyroid function test results and were confirmed to have the same variant. Although the prevalence of FDH might be very low in the Korean population, clinical suspicion is important to avoid unnecessary evaluation and treatment.

Keyword

Abnormal thyroid function test; Albumin gene; Familial dysalbuminemic hyperthyroxinemia; Variant

MeSH Terms

Adult
Albumins/*genetics
Base Sequence
Female
Heterozygote
Humans
Hyperthyroxinemia, Familial Dysalbuminemic/*genetics
Pedigree
Radioimmunoassay
Sequence Analysis, DNA
Thyroxine/analysis
Albumins
Thyroxine

Figure

• 

  Fig. 1 Pedigree of the familial dysalbuminemic hyperthyroxinemia (FDH) family and albumin gene (ALB) mutation analysis for the proband. Half-closed and open squares indicate male subjects with and without FDH, respectively. Half-closed and open circles represent female subjects with and without FDH, respectively. Grey squares indicate male subjects who were not tested for thyroid function or ALB mutation. The arrow indicates the proband. Sequencing analysis identified the c.725G>A (p.Arg242His) mutation (arrow).

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