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Factor IX Deficiency in Gaucher Disease: An in Vitro Phenomenon

Factor IX Deficiency in Gaucher Disease: An in Vitro Phenomenon Abstract 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 References 1. Brady RO, Kanfer JN, Bradley RM, et al: Demonstration of a deficiency of glucerebroside-cleaving enzyme in Gaucher's disease . J Clin Invest 45:1112-1115, 1966.Crossref 2. Brady RO, Kanfer JN, Shapiro D: The metabolism of glucocerebrosides: II. Purification and properties of a glucerebroside-cleaving enzyme from spleen tissue . J Biol Chem 240:39-43, 1965. 3. Brady RO, Kanfer JN, Shapiro D: Metabolism of glucocerebrosides: II. Evidence of an enzymatic deficiency in Gaucher's disease . Biochem Biophys Res Commun 18:221-225, 1965.Crossref 4. Kuske TT, Rosenberg A: Quantity and fatty acyl composition of the glycosphingolipids of Gaucher spleen . J Lab Clin Med 80:523-529, 1972. 5. Ivy AC, Nelson D, Bucher G: The standardization of certain factors in the cutaneous "venostasis" bleeding time technique . J Lab Clin Med 26:1812-1822, 1941. 6. Quick AJ: The prothrombin in hemophilia and in obstructive jaundice . J Biol Chem 109:lxxiii-lxxiv, 1935. 7. Sussman LN, Cohen IB, Gittler R: Clinical application of simplified serum prothrombin consumption test . JAMA 156:702-705, 1954.Crossref 8. Lee RL, White PD: A clinical study of the coagulation of blood . Am J Med Sci 145:495-503, 1913.Crossref 9. Margolius A Jr, Jackson DP, Ratnoff OD: Circulating anticoagulants: A study of forty cases and a review of the literature . Medicine 40:145-202, 1961.Crossref 10. Proctor RR, Rapaport SI: The partial thromboplastin time with kaolin . Am J Clin Pathol 36:212-219, 1961. 11. Borchgrevink CF, Pool KG, Stormorken H: A new assay for factor V (proaccelerin-accelerin) using Russell's viper venom . J Lab Clin Med 55:625-632, 1960. 12. Koller F, Loeliger A, Duckert F: Experiments on a new clotting factor (VII) . Acta Haematol 6:1-18, 1951.Crossref 13. Rapaport SI, Schiffman S, Patch MJ, et al: A simple specific one-stage assay for plasma thromboplastin antecedent activity . J Lab Clin Med 57:771-780, 1961. 14. Bachmann F, Duckert F, Koller F: The Stuart-Prower factor assay and its clinical significance . Thromb Diath Haemorrh 2:24-38, 1958. 15. Bell WN, Alton HG: A brain extract as a substitute for platelet suspensions in the thromboplastin generation test . Nature 174:880-881, 1954.Crossref 16. Marcus AJ: Platelet function (first of three parts) . N Engl J Med 280:1213-1220, 1969.Crossref 17. Chargaff E: The occurrence in mammalian tissue of a lipid fraction acting as inhibitor of blood clotting . Science 85:548-549, 1937.Crossref 18. Chargaff E: Studies on the chemistry of blood coagulation: IV. Lipid inhibitors of blood clotting occurring in mammalian tissue . J Biol Chem 121:175-186, 1937. 19. Chargaff E: Studies on the chemistry of blood coagulation: V. Synthetic cerebroside sulfuric acids and their action in blood clotting . J Biol Chem 121:187-193, 1937. 20. Hecht E: New inhibitors of the first stage of the blood clotting process . Nature 167:279-280, 1951.Crossref 21. Hecht E, Landaburu RH, Seegers WH: Sphingosine as inhibitor of prothrombin activation with thromboplastin or with threone . Am J Physiol 189:203-208, 1957. 22. Wago K: Antiatherosclerotic and anticoagulant activity of cerebroside sulfate . Jap Heart J 2:354-367, 1961.Crossref 23. De Suto-Nagy GJ: The mode of action of an anticoagulant derived from tissues . Am J Physiol 141:338-345, 1944. 24. Vreeken J, Meinders AE, Keeman JW, et al: A chronic clotting defect with some characteristics of excessive intravascular coagulation in a patient with Gaucher's disease . Folia Med Neerl 10:180-185, 1967. 25. Handley DA, Lawrence JR: Factor IX deficiency in the nephrotic syndrome . Lancet 1:1079-1081, 1967.Crossref 26. Silverstein MN, Ellefson RD, Ahern EJ: The syndrome of the sea-blue histiocyte . N Engl J Med 282:1-4, 1970.Crossref 27. Sawitsky A, Rosner F, Chodsky S: The sea blue histiocyte syndrome—a review: Genetic and biochemical studies . Semin Hematol 9:285-298, 1972. 28. Hoag SM, Johnson FF, Robinson JA, et al: Treatment of Hemophilia B with a new clotting factor concentrate . N Engl J Med 280:581, 1969.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Internal Medicine American Medical Association

Factor IX Deficiency in Gaucher Disease: An in Vitro Phenomenon

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References (33)

Publisher
American Medical Association
Copyright
Copyright © 1976 American Medical Association. All Rights Reserved.
ISSN
0003-9926
eISSN
1538-3679
DOI
10.1001/archinte.1976.03630040091019
Publisher site
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Abstract

Abstract 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 References 1. Brady RO, Kanfer JN, Bradley RM, et al: Demonstration of a deficiency of glucerebroside-cleaving enzyme in Gaucher's disease . J Clin Invest 45:1112-1115, 1966.Crossref 2. Brady RO, Kanfer JN, Shapiro D: The metabolism of glucocerebrosides: II. Purification and properties of a glucerebroside-cleaving enzyme from spleen tissue . J Biol Chem 240:39-43, 1965. 3. Brady RO, Kanfer JN, Shapiro D: Metabolism of glucocerebrosides: II. Evidence of an enzymatic deficiency in Gaucher's disease . Biochem Biophys Res Commun 18:221-225, 1965.Crossref 4. Kuske TT, Rosenberg A: Quantity and fatty acyl composition of the glycosphingolipids of Gaucher spleen . J Lab Clin Med 80:523-529, 1972. 5. Ivy AC, Nelson D, Bucher G: The standardization of certain factors in the cutaneous "venostasis" bleeding time technique . J Lab Clin Med 26:1812-1822, 1941. 6. Quick AJ: The prothrombin in hemophilia and in obstructive jaundice . J Biol Chem 109:lxxiii-lxxiv, 1935. 7. Sussman LN, Cohen IB, Gittler R: Clinical application of simplified serum prothrombin consumption test . JAMA 156:702-705, 1954.Crossref 8. Lee RL, White PD: A clinical study of the coagulation of blood . Am J Med Sci 145:495-503, 1913.Crossref 9. Margolius A Jr, Jackson DP, Ratnoff OD: Circulating anticoagulants: A study of forty cases and a review of the literature . Medicine 40:145-202, 1961.Crossref 10. Proctor RR, Rapaport SI: The partial thromboplastin time with kaolin . Am J Clin Pathol 36:212-219, 1961. 11. Borchgrevink CF, Pool KG, Stormorken H: A new assay for factor V (proaccelerin-accelerin) using Russell's viper venom . J Lab Clin Med 55:625-632, 1960. 12. Koller F, Loeliger A, Duckert F: Experiments on a new clotting factor (VII) . Acta Haematol 6:1-18, 1951.Crossref 13. Rapaport SI, Schiffman S, Patch MJ, et al: A simple specific one-stage assay for plasma thromboplastin antecedent activity . J Lab Clin Med 57:771-780, 1961. 14. Bachmann F, Duckert F, Koller F: The Stuart-Prower factor assay and its clinical significance . Thromb Diath Haemorrh 2:24-38, 1958. 15. Bell WN, Alton HG: A brain extract as a substitute for platelet suspensions in the thromboplastin generation test . Nature 174:880-881, 1954.Crossref 16. Marcus AJ: Platelet function (first of three parts) . N Engl J Med 280:1213-1220, 1969.Crossref 17. Chargaff E: The occurrence in mammalian tissue of a lipid fraction acting as inhibitor of blood clotting . Science 85:548-549, 1937.Crossref 18. Chargaff E: Studies on the chemistry of blood coagulation: IV. Lipid inhibitors of blood clotting occurring in mammalian tissue . J Biol Chem 121:175-186, 1937. 19. Chargaff E: Studies on the chemistry of blood coagulation: V. Synthetic cerebroside sulfuric acids and their action in blood clotting . J Biol Chem 121:187-193, 1937. 20. Hecht E: New inhibitors of the first stage of the blood clotting process . Nature 167:279-280, 1951.Crossref 21. Hecht E, Landaburu RH, Seegers WH: Sphingosine as inhibitor of prothrombin activation with thromboplastin or with threone . Am J Physiol 189:203-208, 1957. 22. Wago K: Antiatherosclerotic and anticoagulant activity of cerebroside sulfate . Jap Heart J 2:354-367, 1961.Crossref 23. De Suto-Nagy GJ: The mode of action of an anticoagulant derived from tissues . Am J Physiol 141:338-345, 1944. 24. Vreeken J, Meinders AE, Keeman JW, et al: A chronic clotting defect with some characteristics of excessive intravascular coagulation in a patient with Gaucher's disease . Folia Med Neerl 10:180-185, 1967. 25. Handley DA, Lawrence JR: Factor IX deficiency in the nephrotic syndrome . Lancet 1:1079-1081, 1967.Crossref 26. Silverstein MN, Ellefson RD, Ahern EJ: The syndrome of the sea-blue histiocyte . N Engl J Med 282:1-4, 1970.Crossref 27. Sawitsky A, Rosner F, Chodsky S: The sea blue histiocyte syndrome—a review: Genetic and biochemical studies . Semin Hematol 9:285-298, 1972. 28. Hoag SM, Johnson FF, Robinson JA, et al: Treatment of Hemophilia B with a new clotting factor concentrate . N Engl J Med 280:581, 1969.Crossref

Journal

Archives of Internal Medicine – American Medical Association

Published: Apr 1, 1976

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