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

Disease Context: Research Results

Related Diseases

1.	Thyroid Diseases (Thyroid Disease)
2.	Hyperthyroxinemia
3.	Thyroid Hormone Resistance Syndrome (Thyroid Hormone Resistance)
4.	Pituitary Neoplasms (Pituitary Adenoma)
5.	Pancreatitis

Experts

1.	Refetoff, S: 2 articles (12/2001 - 08/2000)
2.	Weiss, R E: 2 articles (12/2001 - 08/2000)
3.	de Rijke, Yolanda B: 1 article (03/2011)
4.	Ross, H Alec: 1 article (03/2011)
5.	Sweep, Fred C G J: 1 article (03/2011)
6.	Tütüncüler, Filiz: 1 article (11/2008)
7.	Poyrazoğlu, Sükran: 1 article (11/2008)
8.	Baş, Firdevs: 1 article (11/2008)
9.	Darendeliler, Feyza: 1 article (11/2008)
10.	Nounopoulos, C: 1 article (06/2006)

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. " 03/01/2011 - "Spuriously high free thyroxine values in familial dysalbuminemic hyperthyroxinemia." 02/01/2004 - "Familial dysalbuminemic hyperthyroxinemia (FDH) is a familial autosomal dominant syndrome caused by abnormal albumin with an increased affinity for thyroxine (T4). " 02/01/2004 - "Artifactually elevated serum-free thyroxine levels measured by equilibrium dialysis in a pregnant woman with familial dysalbuminemic hyperthyroxinemia." 05/27/2003 - "Mutation of residue R218 within subdomain IIA greatly enhances the affinity for thyroxine and causes the elevated serum thyroxine levels associated with familial dysalbuminemic hyperthyroxinemia (FDH). "
2.	Serum AlbuminIBA 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. " 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." 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. "
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.	Thyroid HormonesIBA 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. " 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. " 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. "
5.	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. " 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. "
6.	Staphylococcal Protein A (A, Protein)IBA 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. "
7.	Carrier Proteins (Binding Protein)IBA 02/01/1996 - "Inhibition of serum protein binding of thyroxine in a hypothyroid patient with familial dysalbuminemic hyperthyroxinemia." 10/01/1990 - "Subjects with familial dysalbuminemic hyperthyroxinemia (n = 8), representing a situation with elevated circulating levels of T4 due to enhanced protein binding, and patients with nontoxic goiter with serum TSH levels ranging from 3.6-0.05 mU/L had normal serum levels of PIIINP and HA. " 06/01/1986 - "Sex hormone-binding protein in hyperthyroxinemic patients: a discriminator for thyroid status in thyroid hormone resistance and familial dysalbuminemic hyperthyroxinemia." 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." 07/01/1987 - "All the pregnant, estrogen-treated and abnormal thyroxine protein-binding patients had TSH results within the reference range 0.5-6.0 mU/l, except one familial dysalbuminemic hyperthyroxinemia (FDH) patient (T4 level, 178 nmol/l) lost to follow-up with a TSH level of 8.5 mU/l, and one euthyroid, low-TBG patient being treated inappropriately with thyroxine, with a TSH level less than 0.5 mU/l. "
8.	Prealbumin (Transthyretin)IBA 01/01/1996 - "Thus, increased serum total T4 (TT4) and, in many instances, T3 (TT3) concentrations are encountered in euthyroid subjects with TBG excess, familial dysalbuminemic hyperthyroxinemia and transthyretin-associated hyperthyroxinemia, while decreased serum TT4 and TT3 levels are associated with TBG deficiency: under these circumstances, measurement of serum FT4 and FT3 levels correctly establishes the diagnosis of euthyroidism. " 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. " 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. " 01/01/1992 - "Increased serum total thyroid hormone levels are found in subjects with TBG excess, familial dysalbuminemic hyperthyroxinemia, and transthyretin-associated hyperthyroxinemia. "
9.	HormonesIBA 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." 01/01/1992 - "Increased serum total thyroid hormone levels are found in subjects with TBG excess, familial dysalbuminemic hyperthyroxinemia, and transthyretin-associated hyperthyroxinemia. " 06/01/1986 - "Sex hormone-binding protein in hyperthyroxinemic patients: a discriminator for thyroid status in thyroid hormone resistance and familial dysalbuminemic hyperthyroxinemia."
10.	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 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. " 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. "