Hyperthyroxinemia, Familial Dysalbuminemic; Fdah

Description

Familial dysalbuminemic hyperthyroxinemia is an autosomal dominant condition characterized by the presence of a variant serum albumin with preferential affinity for thyroxine (T4) in clinically euthyroid individuals. Individuals have consistently elevated total T4 and elevated or normal free T4 values with normal TSH levels. The condition may be confused with hyperthyroidism or thyroid hormone resistance syndromes, prompting repeated unnecessary laboratory testing and possibly even inappropriate treatment (summary by Heufelder et al., 1995).

Clinical Features

Phenotypes and symptoms related to Hyperthyroxinemia, Familial Dysalbuminemic; Fdah

  • Hypothyroidism
  • Hyperlipidemia
  • Hypercholesterolemia
  • Goiter
  • Hyperthyroidism
  • Graves disease
  • Thyroid hormone receptor defect
  • Euthyroid hyperthyroxinemia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hyperthyroxinemia, Familial Dysalbuminemic; Fdah Is also known as fdh, euthyroid hyperthyroxinemia 1.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hyperthyroxinemia, Familial Dysalbuminemic; Fdah Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Analbuminemia (sequence analysis of ALB gene).

By CGC Genetics (Portugal).

ALB
Specificity
100 %
Genes
100 %
Analbuminemia (sequence analysis of ALB gene).

By CGC Genetics (Portugal).

ALB
Specificity
100 %
Genes
100 %
ALB.

By Fulgent Genetics Fulgent Genetics (United States).

ALB
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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