Familial dysalbuminemic hyperthyroxinemia

[1][2] It is an autosomal dominant condition that is often mistaken for resistance to thyroid hormone (RTH) syndromes or hyperthyroidism.

[3] In some cases, symptoms such as those seen in hyperthyroidism have been recorded like: palpitations, weight loss, tremors, and anxiety.

This causes an elevation in total T4 levels without a corresponding increase in free T4, which is why those with this mutation have no clinical symptoms because their thyroid still functions normally.

Due to patients being asymptomatic and euthyroid, treatment is not required for those with familial dysalbuminemic hyperthyroxinemia.

The prevalence is higher in those of Hispanic origin compared to those in populations in Venezuela, France, and Denmark.