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April 1976

Factor IX Deficiency in Gaucher Disease: An in Vitro Phenomenon

Author Affiliations

From the Division of Hematology and the Department of Laboratories, Long Island Jewish— Hillside Medical Center, New Hyde Park, NY.

Arch Intern Med. 1976;136(4):489-492. doi:10.1001/archinte.1976.03630040091019

Gaucher disease is the result of an inborn error of metabolism, the biochemical manifestation of which is a decrease in levels of a glucocerebroside hydrolysis enzyme in tissue.1-3 The defect causes the accumulation of a cerebroside (probably sialyl lactosyl ceramide)4 in reticuloendothelial cells, notably those of the spleen, liver, bone marrow, and lymph nodes. It is the characteristic morphological finding of the lipid-engorged splenic or bone marrow histiocytes that permits diagnosis.

Although patients with this lipid storage disease frequently suffer from mild bleeding problems due to thrombocytopenia, few data have been accumulated relative to a defect in the intrinsic system of coagulation.

Recently, in the preoperative evaluation of a patient with Gaucher disease, a deficiency in the thromboplastin generation stage of coagulation was found. Further investigation of this defect suggested a decrease in the activity of factor IX, plasma thromboplastin component (PTC). Because of this experience, blood samples

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