Tangier disease (familial high density lipoprotein deficiency)

Hoffman, Harry N.; Fredrickson, Donald S.

doi:10.1016/0002-9343(65)90081-1

Cited by 100 publications

(31 citation statements)

References 15 publications

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“…However, sometimes the presence of a bleeding disorder as in our case 2, in case 1 of Hoffman and Fredrickson (1965), and in the case of Kummer, Laissue, Spiess, Pflugshaupt, and Bucher (1968) may necessitate caution. The site most likely to give a positive biopsy result would appear to be rectal mucosa, as lipid deposits or yellow patches here have been reported in the five previous patients who underwent proctoscopy, all of whom were adults, and we have now demonstrated this feature in a 5-year-old child.…”

Section: Casementioning

confidence: 71%

Pathology of Tangier disease

Bale¹,

Clifton‐Bligh²,

Benjamin³

et al. 1971

J Clin Pathol

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Two cases of Tangier disease are described in children from families unrelated to each other. Necropsy in one case, the first to be reported in this condition, showed large collections of cholesterol-laden macrophages in tonsils, thymus, lymph nodes, and colon, and moderate numbers in pyelonephritic scars and ureter. As the storage cells may be scanty in marrow, jejunum, and liver, the rectum is suggested as the site of choice for biopsy.The diagnosis was confirmed by demonstrating the absence of α-lipoproteins from the plasma of the living child, and by finding low plasma levels in both parents of both cases. The disease can be distinguished from other lipidoses by differences in the predominant sites of storage, staining reactions, and serum lipid studies.

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Section: Casementioning

confidence: 71%

Pathology of Tangier disease

Bale¹,

Clifton‐Bligh²,

Benjamin³

et al. 1971

J Clin Pathol

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“…By contrast, significant amounts of Apo A-II were present in the HDL density fraction of Tangier plasma (3). The presence of apoproteins antigenically related to normal HDL was recognized in early studies of Tangier plasma (31,32). The striking pleomorphism of the lipoproteins of density 1.063-1.21 g/ml (Fig.…”

Section: Discussionmentioning

confidence: 91%

Isolation and Characterization of an Abnormal High Density Lipoprotein in Tangier Disease

Assmann¹,

Herbert²,

Fredrickson³

et al. 1977

J. Clin. Invest.

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“…126 No xanthomas were noted in homozygotes except in one subject who developed transient eruptive xanthomas following splenectomy. 112 This patient subsequently developed marked lipid deposition in the reticuloendothelial cells in the omentum. 110 None of these abnormalities have been observed in heterozygotes.…”

Section: Tangier Diseasementioning

confidence: 94%

Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency.

Schaefer¹

1984

Arteriosclerosis

162

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P lasma high density lipoproteins (HDL, density = 1.063 -1.21 g/ml) mostly have alpha mobility on lipoprotein electrophoresis, and are composed (weight %) of approximately 50% protein, 25% phospholipid, 20% cholesterol (mainly esterified), and triglyceride. 1 " 1 Fluctuations in HDL levels have been associated largely with alterations in HDL (d = 1.063-1.125 g/ml). 5 Cholesterol is the HDL constituent commonly measured (following precipitation of other lipoproteins), and decreased plasma HDL cholesterol concentrations have been associated with premature coronary artery disease (CAD).*" 11 The normal values for this parameter are given in Table 1.

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Tangier disease (familial high density lipoprotein deficiency)

Cited by 100 publications

References 15 publications

Pathology of Tangier disease

Pathology of Tangier disease

Isolation and Characterization of an Abnormal High Density Lipoprotein in Tangier Disease

Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency.

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