Familial Dysalbuminemic Hyperthyroxinemia

An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum THYROXINE; (T4) in euthyroid patients with abnormal SERUM ALBUMIN that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and TSH are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the ALB gene on CHROMOSOME 4.

Also Known As:

Networked: 85 relevant articles (0 outcomes, 6 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Thyroid Diseases (Thyroid Disease)
2.	Hyperthyroxinemia
3.	Hyperthyroidism
4.	Inherited Thyroxine-Binding Globulin Deficiency
5.	Thyroid Hormone Resistance Syndrome (Thyroid Hormone Resistance)

Experts

1.	Refetoff, Samuel: 4 articles (01/2020 - 06/2014)
2.	Nakagawa, Yoshinori: 3 articles (11/2017 - 02/2004)
3.	Chatterjee, Krishna: 2 articles (02/2020 - 07/2014)
4.	Halsall, David: 2 articles (02/2020 - 07/2014)
5.	Lyons, Greta: 2 articles (02/2020 - 07/2014)
6.	Moran, Carla: 2 articles (02/2020 - 07/2014)
7.	Dumitrescu, Alexandra M: 2 articles (01/2018 - 06/2014)
8.	Galliano, Monica: 2 articles (01/2017 - 04/2016)
9.	Kragh-Hansen, Ulrich: 2 articles (01/2017 - 04/2016)
10.	Minchiotti, Lorenzo: 2 articles (01/2017 - 04/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial Dysalbuminemic Hyperthyroxinemia:

1.	Thyroxine (Levothyroxine)FDA LinkGeneric 03/01/1986 - "A patient with familial dysalbuminemic hyperthyroxinemia (FDH) was given graded doses of exogenous thyroxine (0.2 mg/d for 2 weeks; 0.4 mg/d for 2 weeks; 0.6 mg/d for 2 weeks) to study modulation of various thyroid parameters. " 01/01/2023 - "Clinical characteristics of familial dysalbuminemic hyperthyroxinemia in Chinese patients and comparison of free thyroxine in three immunoassay methods." 01/01/2020 - "Background: Euthyroid individuals with familial dysalbuminemic hyperthyroxinemia (FDH) have often falsely elevated serum free thyroxine (fT4) concentrations determined by different automated immunoassays. " 01/01/2020 - "Free Thyroxine Concentrations in Sera of Individuals with Familial Dysalbuminemic Hyperthyroxinemia: A Comparison of Three Methods of Measurement." 07/01/2018 - "Familial dysalbuminemic hyperthyroxinemia (FDH) is the most common cause of the inherited increase of serum thyroxine in Caucasians. "
2.	Human Serum AlbuminFDA LinkGeneric 08/01/1999 - "In a previous study, we found that the amino acid substitution R218H in human serum albumin (HSA) was the cause of familial dysalbuminemic hyperthyroxinemia (FDH) in several Caucasian patients. " 01/01/2018 - "An individual with familial dysalbuminemic hyperthyroxinemia (FDH) due to a homozygous mutation (c.653G>A, p.R218H) in the human serum albumin (HSA) gene is reported. " 02/01/2000 - "Two distinct genotypes that result in the amino acid substitutions R218P and R218H in subdomain 2A of human serum albumin (HSA) have been identified as the cause of familial dysalbuminemic hyperthyroxinemia (FDH). " 02/01/1995 - "Identification of a human serum albumin species associated with familial dysalbuminemic hyperthyroxinemia." 07/01/1983 - "Immunoprecipitation of [125I]T4 and the unidentified labeled kit analogs by antiserum to human albumin was negligible in untreated total hereditary analbuminemia and approximately twice normal in familial dysalbuminemic hyperthyroxinemia. "
3.	Thyroxine-Binding GlobulinIBA 02/01/1987 - "A four generation study of familial dysalbuminemic hyperthyroxinemia: diagnosis in the presence of an acquired excess of thyroxine-binding globulin." 08/01/1993 - "Serum samples from 10 subjects with above-normal thyroxine-binding globulin (TBG), 6 with low TBG, 30 with familial dysalbuminemic hyperthyroxinemia (FDH), 13 with nonesterified fatty acids (NEFA) concentrations in serum > 1.0 mmol/L, and 178 patients with various degrees of nonthyroidal illness (NTI) were measured and compared with samples from 42 euthyroid blood donors. " 12/01/1988 - "Normal cellular uptake of thyroxine from serum of patients with familial dysalbuminemic hyperthyroxinemia or elevated thyroxine-binding globulin." 08/01/1987 - "Role of serum carrier proteins in the peripheral metabolism and tissue distribution of thyroid hormones in familial dysalbuminemic hyperthyroxinemia and congenital elevation of thyroxine-binding globulin." 11/01/2008 - "The combination of elevated serum levels of free thyroid hormones with elevated thyroid-stimulating hormone (TSH) suggest differential diagnoses of RTH, thyroxine-binding globulin abnormalities, familial dysalbuminemic hyperthyroxinemia and TSH-secreting pituitary tumors. "
4.	AlbuminsIBA 02/26/2020 - "Familial dysalbuminemic hyperthyroxinemia (FDH) is a cause of discordant thyroid function tests (TFTs), due to interference in free T4 assays, caused by the mutant albumin. " 04/01/2016 - "Placing the high-affinity binding site (Tr4) and the one which can result in familial dysalbuminemic hyperthyroxinemia (Tr1) in two very different parts of HSA is not trivial, because in this way persons with and without the syndrome can have different types of interactions, and thereby complications, when given albumin-bound drugs. " 01/01/2016 - "Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P)." 07/01/2014 - "(125)I-T4 binding to both serum and albumin in affected individuals was markedly increased, comparable with known familial dysalbuminemic hyperthyroxinemia cases. " 07/01/2014 - "Familial dysalbuminemic hyperthyroxinemia, characterized by abnormal circulating albumin with increased T4 affinity, causes artefactual elevation of free T4 concentrations in euthyroid individuals. "
5.	Thyroid HormonesIBA 01/01/2017 - "Familial dysalbuminemic hyperthyroxinemia (FDH-T4) and hypertriiodothyroninemia (FDH-T3) are dominantly inherited syndromes characterized by a high concentration of thyroid hormone in the blood stream. " 10/01/1994 - "The control materials were normal serum pools, pooled sera supplemented with thyroid hormones, a pregnancy serum pool, serum pooled from patients with familial dysalbuminemic hyperthyroxinemia (FDH), and a normal serum pool progressively diluted. " 02/26/2020 - "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. " 07/01/2003 - "Interference from anti-thyroid hormone antibodies and familial dysalbuminemic hyperthyroxinemia depends on the assay method, but is now less marked and less frequently detected. " 01/01/1996 - "Familial dysalbuminemic hyperthyroxinemia and thyroid hormone autoantibodies: interference in current free thyroid hormone assays."
6.	Serum AlbuminIBA 01/01/1995 - "The recently recognized syndrome of familial dysalbuminemic hyperthyroxinemia (FDH), an inherited abnormality with autosomal dominant transmission, is characterized by the presence of a variant serum albumin with preferential affinity for T4 (2-4). " 01/01/1995 - "The syndrome of familial dysalbuminemic hyperthyroxinemia (FDH), an inherited abnormality characterized by the presence of a variant serum albumin with preferential affinity for T4, is recognized with increasing frequency as a cause of elevated total and free T4 serum values in clinically euthyroid patients with normal TSH levels. " 01/01/1994 - "Familial dysalbuminemic hyperthyroxinemia (FDH) is a syndrome associated with euthyroidism and increased binding of T4 to serum albumin. " 02/01/1995 - "Familial dysalbuminemic hyperthyroxinemia (FDH) is a form of euthyroid hyperthyroxinemia that is due to an increased affinity of serum albumin for T4. " 02/01/1987 - "This study describes a family with intrinsic thyroid disease in addition to familial dysalbuminemic hyperthyroxinemia, a syndrome associated with euthyroidism and increased binding of thyroxine to serum albumin. "
7.	Triiodothyronine (Liothyronine)FDA LinkGeneric 12/01/2001 - "We found familial dysalbuminemic hyperthyroxinemia (FDH) in a 5-month-old boy with congenital hypothyroidism (CH) who had a blood thyrotropin (TSH) level of 479 mU/L but normal total serum thyroxine (T4) and higher than normal total triiodothyronine (T3) levels. " 11/01/2017 - "F = free; FDH = familial dysalbuminemic hyperthyroxinemia; HPLC = high-performance liquid chromatography; HSA = human serum albumin; PCR = polymerase chain reaction; SITSH = syndrome of inappropriate secretion of TSH; T = total; T3 = triiodothyronine; T4 = thyroxine; TSH = thyroid-stimulating hormone; WT = wild-type." 01/01/1993 - "Familial dysalbuminemic hyperthyroxinemia, a syndrome involving an abnormal affinity of albumin for thyroxine, results in elevated total thyroxine and free thyroxine index levels but normal triiodothyronine resin uptake and thyroid-stimulating hormone levels. " 08/01/1987 - "To investigate the role of thyroxine-binding globulin (TBG) and albumin in the availability of thyroid hormones to peripheral tissues, comprehensive kinetic studies of thyroxine (T4) and triiodothyronine (T3) were carried out in eight subjects with familial dysalbuminemic hyperthyroxinemia (FDH), in four subjects with inherited TBG excess, and in 15 normals. "
8.	Proteins (Proteins, Gene)FDA Link 01/01/2017 - "Clinical, Genetic, and Protein Structural Aspects of Familial Dysalbuminemic Hyperthyroxinemia and Hypertriiodothyroninemia." 09/25/1995 - "In this study a protein expression system was used to synthesize recombinant human serum albumin containing a mutation that has been shown to result in familial dysalbuminemic hyperthyroxinemia. " 12/01/1990 - "Proteins studied were human T4-binding globulin (TBG), human T4-binding prealbumin (TBPA), human albumin, rat TBPA, and human albumin isolated from subjects with familial dysalbuminemic hyperthyroxinemia. "
9.	GlobulinsIBA 06/01/1984 - "It was within the normal range in all 4 subjects with absent or low T4-binding globulin (TBG) and in 5 of the 6 subjects with elevated TBG or familial dysalbuminemic hyperthyroxinemia. " 09/01/1988 - "Free T4 concentrations in various disorders were as follows: hyperthyroidism, 32-478 ng/L; in both excess thyroxin-binding globulin (TBG) and familial dysalbuminemic hyperthyroxinemia, 9-27 ng/L; primary hypothyroidism, less than 2-7 ng/L; central hypothyroidism, 4-6 ng/L; severe TBG deficiency, 9-25 ng/L; hypothyroxinemias of nonthyroidal illness, 8-35 ng/L. " 12/01/1988 - "To determine whether thyroid hormone-binding proteins in serum, particularly albumin, facilitate the transfer of T4 into human tissues, we studied cellular T4 uptake (CT4) by human liver (Hep G2) cells from medium containing serum from subjects with familial dysalbuminemic hyperthyroxinemia (FDH) and acquired and familial T4-binding globulin (TBG) excess and patients with normal T4-binding to albumin and normal TBG concentrations. " 04/01/1988 - "Thyroxin binding by human serum albumin after denaturation of the thyroxin-binding globulin in familial dysalbuminemic hyperthyroxinemia." 01/01/1986 - "Methods to identify the plasma T4-binding abnormalities that can cause euthyroid hyperthyroxinemia were evaluated in patients with excess T4-binding globulin, familial dysalbuminemic hyperthyroxinemia, prealbumin-associated hyperthyroxinemia, and autoantibody binding of T4. "
10.	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 02/27/2017 - "A case of familial dysalbuminemic hyperthyroxinemia (FDH) in Japan: FDH as a possible differential diagnosis of syndrome of inappropriate secretion of thyroid-stimulating hormone (SITSH)." 03/01/1990 - "This entity, known as familial dysalbuminemic hyperthyroxinemia, is being reported with increasing frequency and should be suspected when elevated total thyroxine and free thyroxine or "T7" levels are associated with a normal thyrotropin level. " 01/01/1993 - "The effects of danazol on a patient with familial dysalbuminemic hyperthyroxinemia correlate well with the effects on normals, and the ultrasensitive thyroid-stimulating hormone was the most useful test in separating hyperthyroxinemia from hyperthyroidism." 11/01/2008 - "The combination of elevated serum levels of free thyroid hormones with elevated thyroid-stimulating hormone (TSH) suggest differential diagnoses of RTH, thyroxine-binding globulin abnormalities, familial dysalbuminemic hyperthyroxinemia and TSH-secreting pituitary tumors. " 12/01/2001 - "We found familial dysalbuminemic hyperthyroxinemia (FDH) in a 5-month-old boy with congenital hypothyroidism (CH) who had a blood thyrotropin (TSH) level of 479 mU/L but normal total serum thyroxine (T4) and higher than normal total triiodothyronine (T3) levels. "

Therapies and Procedures

1.	Therapeutics 01/01/2015 - "She was ultimately found to have familial dysalbuminemic hyperthyroxinemia (FDH) and required no therapy. " 02/01/1987 - "The simultaneous occurrence of thyroid disease and elevated serum thyroxine concentrations due to familial dysalbuminemic hyperthyroxinemia may confound the diagnosis of the two concurrent disorders and the subsequent therapy of the thyroid disease."