Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Sea-blue histiocyte disease

Sea-blue histiocyte disease is an autosomal recessive disorder caused by a small deletion in the APOE gene (NM_000041.2:p.L167del). Clinical features include splenomegaly, mild thrombocytopenia. In the bone marrow, histiocytes can be found that contain cytoplasmic granules that stain bright blue. Family findings suggest a founder of French-Canadian ancestry.

Systematic

Hereditary lipid disorders
Attenuated cholesterol lowering by statins
Disorders of mRNA editing
Disturbances of body fat distribution
Disturbed regulators of lipid and carbohydrate metabolism
Dyslipidemia
Hepatic CPT-deficiency type 1A
Neutral lipid storage disease
Sea-blue histiocyte disease
APOE
Statin intolerance
Tangier Disease

References:

1.

Nguyen TT et al. (2000) Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)].

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2.

Faivre L et al. (2005) Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation.

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3.

Fried K et al. (1978) Biochemical, genetic and ultrastructural study of a family with the sea-blue histiocyte syndrome/chronic non-neuronopathic Niemann-Pick disease.

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4.

Swaiman KF et al. (1975) Sea-blue histiocyte and posterior column dysfunction: a familial disorder.

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5.

HOLLAND P et al. (1965) CHRONIC RETICULOENDOTHELIAL CELL STORAGE DISEASE.

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6.

Viana MB et al. (1990) Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis.

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7.

Wewalka FG et al. (1970) Syndrome of the sea-blue histiocyte.

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8.

Chainuvati T et al. (1977) Sea-blue histiocyte syndrome in Thai siblings.

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9.

Jacobsen CD et al. (1972) Sea-blue histiocytes in familial lecithin: cholesterol acyltransferase deficiency.

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10.

Blankenship RM et al. (1973) Familial sea-blue histiocytes with acid phosphatemia. A syndrome resembling Gaucher disease: the Lewis variant.

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11.

Lake BD et al. (1970) Syndrome of the sea-blue histiocyte.

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12.

Zlotnick A et al. (1970) Sea-blue-histiocyte syndrome.

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13.

Silverstein MN et al. (1970) The syndrome of the sea-blue histiocyte.

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14.

Zina AM et al. (1983) Familial sea-blue histiocytosis with cutaneous involvement. A case report with ultrastructural findings.

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Update: Sept. 26, 2018