First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant.
- Author:
Yoon Young CHO
1
;
Ju Sun SONG
;
Hyung Doo PARK
;
Young Nam KIM
;
Hye In KIM
;
Tae Hyuk KIM
;
Jae Hoon CHUNG
;
Chang Seok KI
;
Sun Wook KIM
Author Information
- Publication Type:Case Reports
- Keywords: Abnormal thyroid function test; Albumin gene; Familial dysalbuminemic hyperthyroxinemia; Variant
- MeSH: Adult; Albumins/*genetics; Base Sequence; Female; Heterozygote; Humans; Hyperthyroxinemia, Familial Dysalbuminemic/*genetics; Pedigree; Radioimmunoassay; Sequence Analysis, DNA; Thyroxine/analysis
- From:Annals of Laboratory Medicine 2017;37(1):63-65
- CountryRepublic of Korea
- Language:English
- 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.
