What is Dysalbuminemic Hyperthyroxinemia?

What is Dysalbuminemic Hyperthyroxinemia?

Introduction. Familial dysalbuminemic hyperthyroxinemia (FDH) is a familial autosomal dominant condition that was first reported in 1979 (1,2). It is caused by an abnormal albumin molecule with an increased affinity for serum thyroxine (T4), despite the serum albumin level being quantitatively normal.

What is euthyroid Hyperthyroxinemia?

Euthyroid hyperthyroxinemia is defined as a condition in which the serum total thyroxine (T4) and triiodothyronine (T3) concentrations are increased, but the thyroid-stimulating hormone (TSH) concentration is normal and there are no clinical signs or symptoms of thyroid dysfunction.

What is medical term FDH?

Familial dysalbuminemic hyperthyroxinemia (FDH) is an inherited disease characterized by increased circulating total thyroxine (T4) levels and normal physiological thyroid function.

What is thyroxine T4?

Thyroxine, also known as T4, is a type of thyroid hormone. This test measures the level of T4 in your blood. Too much or too little T4 can indicate thyroid disease. The T4 hormone comes in two forms: Free T4, which enters the body tissues where it’s needed.

What happens when thyroxine is too low?

Slowed heart rate. Depression. Impaired memory. Enlarged thyroid gland (goiter)

What are the symptoms of Euthyroidism?

Usual symptoms include fatigue and weakness, weight gain, puffy face, cold intolerance, constipation and bradycardia. It may result in infertility in adults. Blood tests of thyroid-stimulating hormone (TSH) level and T4 (thyroxine) level are very important for the diagnosis of euthyroid sick syndrome.

What are the symptoms of low T4?


  • Fatigue.
  • Increased sensitivity to cold.
  • Constipation.
  • Dry skin.
  • Weight gain.
  • Puffy face.
  • Hoarseness.
  • Muscle weakness.

Is it better to take thyroxine at night or in the morning?

There is consensus that levothyroxine should be taken in the morning on an empty stomach. A pilot study showed that levothyroxine intake at bedtime significantly decreased thyrotropin levels and increased free thyroxine and total triiodothyronine levels.

What are the biochemical features of Familial dysalbuminemic hyperthyroxinemia (FDH)?

The typical biochemical features of familial dysalbuminemic hyperthyroxinemia (FDH) are (genuinely) raised total and (spuriously) raised free T4 concentrations due to enhanced binding of the mutant albumin to thyroid hormones, with normal TBG and TSH concentrations. Given the high prevalence of auto …

What is dysalbuminemic hyperthyroxinemia?

Familial dysalbuminemic hyperthyroxinemia (FDH) is a rare inherited autosomal dominant condition in which the albumin is in an altered form that has an increased affinity for T 4 (and sometimes T 3). In this condition the concentration of total T 4 is increased although free T 4 is normal.

What is the abbreviation for dysalbuminemic hyperthyroxinemia (FDH)?

Nonstandard abbreviations: FDH, familial dysalbuminemic hyperthyroxinemia; T 4, thyroxine; SyD, symmetric dialysis; FT 4, free T 4. Sapin R, Gasser F, Schlienger JL.

How is familial disseminated hormone deficiency (FDH) diagnosed?

The diagnosis of FDH is suspected if there is a similar abnormal familial pattern of TFTs and increased binding of radiolabelled 125I-T4 to the patient’s serum, and can be confirmed by ALB gene sequencing. When autoimmune thyroid disease coexists with FDH, TSH levels are the most reliable biochemical marker of thyroid status.