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Pierre Julien - One of the best experts on this subject based on the ideXlab platform.
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hemolysis in primary Lipoprotein Lipase Deficiency
Metabolism-clinical and Experimental, 1995Co-Authors: Bernard Cantin, L.d. Brun, M.r. Ven Murthy, Claude Gagné, Paul-j. Lupien, Sophie Boudriau, Michel Bertrand, Peter Rogers, Pierre JulienAbstract:A slight to moderate hemolysis is often present in plasma from patients with primary Lipoprotein Lipase (LPL) Deficiency. To determine the nature of this hemolysis, we measured erythrocyte hypo-osmotic fragility, plasma free hemoglobin, and phospholipid composition in 26 patients with primary LPL Deficiency and 21 unrelated controls. In some patients, these investigations were completed by erythrocyte cytoskeletal protein determinations and abdominal echography. Osmotic fragility was similar between control subjects and patients. However, there was a significantly increased concentration of plasma free hemoglobin in primary LPL Deficiency (0.282 ± 0.331 v 0.048 ± 0.038 g/L in controls, P < .005). In LPL-deficient patients, an increase of plasma lysophosphatidylcholine concentration (12.6% ± 5.8% v 6.4% ± 1.9% in controls, P < .0001) was also found. The protein composition of the erythrocyte membrane skeleton was abnormal in some LPL-deficient patients and splenomegaly was present in 12, but these abnormalities did not correlate with plasma free hemoglobin levels. Bilirubin and haptoglobin levels were also within physiologic ranges in these patients, suggesting that the observed hemolysis did not result from hypersplenism. It appears likely that the accumulation of lysophosphatidylcholine was due to an impairment in the reverse metabolic pathway converting lysophosphatidylcholine back to phosphatidylcholine. Collectively, these data, along with a positive correlation between plasma free hemoglobin and lysophosphatidylcholine levels (r = .58, P = .0001), suggest that the hemolysis observed in primary LPL Deficiency is mediated to some extent by the abnormally elevated concentration of lysophosphatidylcholine.
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Adipose cell size and distribution in familial Lipoprotein Lipase Deficiency.
International Journal of Obesity, 1992Co-Authors: E. Peeva, L.d. Brun, M.r. Ven Murthy, Jean-pierre Després, Thierry Normand, Claude Gagné, P. J. Lupien, Pierre JulienAbstract:To determine the effect of Lipoprotein Lipase Deficiency on the size distribution of fat cell populations in human adipose tissues, abdominal and femoral subcutaneous fat tissue biopsies were obtained from seven patients affected by familial hyperchylomicronaemia. These patients were characterized by massive accumulation of chylomicrons in the fasting state due to defective catabolism of plasma triglyceride-rich Lipoproteins. They had no post-heparin plasma Lipoprotein Lipase activity and their fat tissues were deficient in Lipoprotein Lipase activity. The size distribution of adipocytes examined by scanning electron microscopy were similar to distributions observed in control subjects. Patient fat cell diameters were not statistically different from control fat cells obtained from subjects of similar body mass index. Mature fat cells contributed to 99% of the total fat tissue mass in Lipoprotein Lipase Deficiency. Normal adiposity in Lipoprotein Lipase Deficiency can thus be attributed to mature adipocytes and not to hyperplastic growth of immature fat cells. It is concluded that normal adipose tissue homeostasis is maintained in these patients in spite of the Deficiency in Lipoprotein Lipase activity.
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Alterations in erythrocyte membrane lipid composition and fluidity in primary Lipoprotein Lipase Deficiency.
Biochimica et Biophysica Acta, 1992Co-Authors: Bernard Cantin, L.d. Brun, M.r. Ven Murthy, Claude Gagné, Paul-j. Lupien, Pierre JulienAbstract:Abstract Lipid composition of plasma Lipoproteins and erythrocyte ghost membranes has been studied in 16 healthy normolipidaemic subjects and in 16 patients affected by primary Lipoprotein Lipase Deficiency, resulting in severe chylomicronaemia and in cholesterol-depleted low-density Lipoproteins and high-density Lipoproteins. A significant decrease in membrane cholesterol/phospholipid ratio was observed in Lipoprotein Lipase deficient patients compared to controls (3.27 ± 0.33 vs. 3.95 ± 0.50, mean ± S.D.; P P
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A Mutation in the Human Lipoprotein Lipase Gene as the Most Common Cause of Familial Chylomicronemia in French Canadians
New England Journal of Medicine, 1991Co-Authors: Howard Henderson, Thierry Normand, Claude Gagné, Pierre Julien, V Murthy, Ghislaine Roederer, M. Monsalve, L Clarke, M. Lambert, Jean DavignonAbstract:Lipoprotein Lipase hydrolyzes the triglyceride core of chylomicrons and very-low-density Lipoproteins and has a crucial role in regulating plasma Lipoprotein levels. Deficiencies of Lipoprotein Lipase activity lead to aberrations in Lipoprotein levels. Worldwide, the frequency of Lipoprotein Lipase Deficiency is highest among French Canadians. We sought to determine the molecular basis of the disorder in this population.
Claude Gagné - One of the best experts on this subject based on the ideXlab platform.
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hemolysis in primary Lipoprotein Lipase Deficiency
Metabolism-clinical and Experimental, 1995Co-Authors: Bernard Cantin, L.d. Brun, M.r. Ven Murthy, Claude Gagné, Paul-j. Lupien, Sophie Boudriau, Michel Bertrand, Peter Rogers, Pierre JulienAbstract:A slight to moderate hemolysis is often present in plasma from patients with primary Lipoprotein Lipase (LPL) Deficiency. To determine the nature of this hemolysis, we measured erythrocyte hypo-osmotic fragility, plasma free hemoglobin, and phospholipid composition in 26 patients with primary LPL Deficiency and 21 unrelated controls. In some patients, these investigations were completed by erythrocyte cytoskeletal protein determinations and abdominal echography. Osmotic fragility was similar between control subjects and patients. However, there was a significantly increased concentration of plasma free hemoglobin in primary LPL Deficiency (0.282 ± 0.331 v 0.048 ± 0.038 g/L in controls, P < .005). In LPL-deficient patients, an increase of plasma lysophosphatidylcholine concentration (12.6% ± 5.8% v 6.4% ± 1.9% in controls, P < .0001) was also found. The protein composition of the erythrocyte membrane skeleton was abnormal in some LPL-deficient patients and splenomegaly was present in 12, but these abnormalities did not correlate with plasma free hemoglobin levels. Bilirubin and haptoglobin levels were also within physiologic ranges in these patients, suggesting that the observed hemolysis did not result from hypersplenism. It appears likely that the accumulation of lysophosphatidylcholine was due to an impairment in the reverse metabolic pathway converting lysophosphatidylcholine back to phosphatidylcholine. Collectively, these data, along with a positive correlation between plasma free hemoglobin and lysophosphatidylcholine levels (r = .58, P = .0001), suggest that the hemolysis observed in primary LPL Deficiency is mediated to some extent by the abnormally elevated concentration of lysophosphatidylcholine.
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Primary Lipoprotein Lipase Deficiency. Study in Quebec
Presse Medicale, 1993Co-Authors: Claude Gagné, D BrunAbstract:Primary Lipoprotein Lipase Deficiency is a rare autosomal recessive disease that causes hyperchylomicronaemia complicated by pancreatitis. Recent advances in molecular biology have facilitated its diagnosis and enabled heterozygous subjects to be identified. Numerous mutations are responsible for Lipoprotein Lipase Deficiency. In some eastern regions of Quebec province homozygotes have been found in very high concentrations: up to 200 times the frequency observed in all other parts of the world. Heterozygocity may represent 1 in 40 subjects. Two mutations account for 95 percent of the Quebec cases, and each of them has its own characteristic geographical distribution. These peculiarities have been ascribed to a founder effect suggested by the analysis of the first colons' migrations and by the study of homozygotes' genealogy. Most of the ancestors of the Quebec carriers came from northwestern France in the 17th century, and heterozygotes alleged to be healthy carriers of the trait may have a predisposition to premature development of a cardiovascular disease. Their blood lipid levels and the composition of their Lipoproteins (particularly those with low density) are suggestive of an atherogenic potential similar to that of hyperapobetaLipoproteinaemia or familial combined hyperlipidaemia. Molecular biology would be a useful tool to confirm or infirm this hypothesis and to identify subjects at risk of developing a cardiovascular disease.
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Adipose cell size and distribution in familial Lipoprotein Lipase Deficiency.
International Journal of Obesity, 1992Co-Authors: E. Peeva, L.d. Brun, M.r. Ven Murthy, Jean-pierre Després, Thierry Normand, Claude Gagné, P. J. Lupien, Pierre JulienAbstract:To determine the effect of Lipoprotein Lipase Deficiency on the size distribution of fat cell populations in human adipose tissues, abdominal and femoral subcutaneous fat tissue biopsies were obtained from seven patients affected by familial hyperchylomicronaemia. These patients were characterized by massive accumulation of chylomicrons in the fasting state due to defective catabolism of plasma triglyceride-rich Lipoproteins. They had no post-heparin plasma Lipoprotein Lipase activity and their fat tissues were deficient in Lipoprotein Lipase activity. The size distribution of adipocytes examined by scanning electron microscopy were similar to distributions observed in control subjects. Patient fat cell diameters were not statistically different from control fat cells obtained from subjects of similar body mass index. Mature fat cells contributed to 99% of the total fat tissue mass in Lipoprotein Lipase Deficiency. Normal adiposity in Lipoprotein Lipase Deficiency can thus be attributed to mature adipocytes and not to hyperplastic growth of immature fat cells. It is concluded that normal adipose tissue homeostasis is maintained in these patients in spite of the Deficiency in Lipoprotein Lipase activity.
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Alterations in erythrocyte membrane lipid composition and fluidity in primary Lipoprotein Lipase Deficiency.
Biochimica et Biophysica Acta, 1992Co-Authors: Bernard Cantin, L.d. Brun, M.r. Ven Murthy, Claude Gagné, Paul-j. Lupien, Pierre JulienAbstract:Abstract Lipid composition of plasma Lipoproteins and erythrocyte ghost membranes has been studied in 16 healthy normolipidaemic subjects and in 16 patients affected by primary Lipoprotein Lipase Deficiency, resulting in severe chylomicronaemia and in cholesterol-depleted low-density Lipoproteins and high-density Lipoproteins. A significant decrease in membrane cholesterol/phospholipid ratio was observed in Lipoprotein Lipase deficient patients compared to controls (3.27 ± 0.33 vs. 3.95 ± 0.50, mean ± S.D.; P P
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A Mutation in the Human Lipoprotein Lipase Gene as the Most Common Cause of Familial Chylomicronemia in French Canadians
New England Journal of Medicine, 1991Co-Authors: Howard Henderson, Thierry Normand, Claude Gagné, Pierre Julien, V Murthy, Ghislaine Roederer, M. Monsalve, L Clarke, M. Lambert, Jean DavignonAbstract:Lipoprotein Lipase hydrolyzes the triglyceride core of chylomicrons and very-low-density Lipoproteins and has a crucial role in regulating plasma Lipoprotein levels. Deficiencies of Lipoprotein Lipase activity lead to aberrations in Lipoprotein levels. Worldwide, the frequency of Lipoprotein Lipase Deficiency is highest among French Canadians. We sought to determine the molecular basis of the disorder in this population.
Maurizio Averna - One of the best experts on this subject based on the ideXlab platform.
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The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in Lipoprotein Lipase Deficiency
Atherosclerosis, 2017Co-Authors: E. Steinhagen-thiessen, Handrean Soran, Colin Johnson, Philippe Moulin, Giorgio Iotti, Marco Zibellini, Bas Ossenkoppele, E. Stroes, M. Dippel, Maurizio AvernaAbstract:A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera (R)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of its Risk Management Plan. The aim of this publication is to introduce the GENIALL Registry within a structured literature review of registries in rare genetic lipid disorders. A total of 11 relevant initiatives/registries were identified (homozygous Familial Hypercholesterolemia (hoFH) [n = 5]; LPLD [n = 1]; Lysosomal Acid Lipase Deficiency [LALD, n = 1], detection of mutations in genetic lipid disorders [n = 4]). Besides one product registry in hoFH and the LALD registry, all other initiatives are local or country-specific. GENIALL is the first global prospective registry in LPLD that will collect physician and patient generated data on the natural course of LPLD, as well as long-term outcomes of gene therapy. Conclusion: There is a limited number of international initiatives focusing on the natural course of specific rare genetic lipid disorders. The GENIALL LPLD Registry could be the first step towards a future broader global initiative that collects data related to familial chylomicronemia syndrome and their underlying genetic causes. (C) 2016 Published by Elsevier Ireland Ltd.
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The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in Lipoprotein Lipase Deficiency.
Atherosclerosis, 2016Co-Authors: Elisabeth Steinhagen-thiessen, Erik S.g. Stroes, Michaela Dippel, Handrean Soran, Colin Johnson, Philippe Moulin, Giorgio Iotti, Marco Zibellini, Bas Ossenkoppele, Maurizio AvernaAbstract:Abstract A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera ® ) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of its Risk Management Plan. The aim of this publication is to introduce the GENIALL Registry within a structured literature review of registries in rare genetic lipid disorders. A total of 11 relevant initiatives/registries were identified (homozygous Familial Hypercholesterolemia (hoFH) [n = 5]; LPLD [n = 1]; Lysosomal Acid Lipase Deficiency [LALD, n = 1], detection of mutations in genetic lipid disorders [n = 4]). Besides one product registry in hoFH and the LALD registry, all other initiatives are local or country-specific. GENIALL is the first global prospective registry in LPLD that will collect physician and patient generated data on the natural course of LPLD, as well as long-term outcomes of gene therapy. Conclusion : There is a limited number of international initiatives focusing on the natural course of specific rare genetic lipid disorders. The GENIALL LPLD Registry could be the first step towards a future broader global initiative that collects data related to familial chylomicronemia syndrome and their underlying genetic causes.
Handrean Soran - One of the best experts on this subject based on the ideXlab platform.
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The impact of Lipoprotein Lipase Deficiency on health-related quality of life: a detailed, structured, qualitative study.
Orphanet Journal of Rare Diseases, 2017Co-Authors: Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S. Wierzbicki, Handrean SoranAbstract:Lipoprotein Lipase Deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the Lipoprotein Lipase pathway. It is characterised by chylomicronaemia, severe hypertriglyceridaemia and an increased risk of recurrent pancreatitis that often requires hospitalisation. This research aimed to improve our understanding of the debilitating impact that LPLD has on the daily lives of patients and their families. The research comprised a 2-h interview with the patient and, where possible, a 1-h interview with a family member; a 1-week pre- and post-interview task (written and/or video diary); and a 30–45-min follow-up telephone interview. Feelings and thoughts at each stage of the disease journey were captured on a 0–10 rating scale, while the impact of disease on overall health status was measured via the EuroQoL 5 domains, 3 levels (EQ-5D-3L) questionnaire (descriptive and visual analogue scale). Of four patients identified, three (two female, one male) were recruited to participate in the study; the male patient did not complete the pre-interview task or consent to a family member interview. Demographics and medical history differed among patients in terms of age at symptom onset, their journey to LPLD diagnosis, treatments, the number of attacks of pancreatitis and lengths of hospitalisations. Health-related quality of life, assessed by the EQ-5D-3L, was poor during acute attacks of pancreatitis but was minimally impacted by their condition at interview. Patients described feeling apprehensive, frightened, anxious, depressed or frustrated during and after hospitalisations; spouses of the two female patients also reported being worried or afraid. LPLD affected many aspects of daily living, including diet; socialising and building relationships; state of mind (fear of another attack of pancreatitis or lack of disease control); college and working life (through absenteeism and consequent financial implications); and being reliant on family and friends for support. The interviews of the three patients with LPLD highlighted several concerns and emphasised the need for improved education, support, dietary advice and appropriate disease management. Additional support services would ease the fear and uncertainty surrounding attacks of pancreatitis, and would allow for improved treatment during hospitalisations.
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The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in Lipoprotein Lipase Deficiency
Atherosclerosis, 2017Co-Authors: E. Steinhagen-thiessen, Handrean Soran, Colin Johnson, Philippe Moulin, Giorgio Iotti, Marco Zibellini, Bas Ossenkoppele, E. Stroes, M. Dippel, Maurizio AvernaAbstract:A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera (R)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of its Risk Management Plan. The aim of this publication is to introduce the GENIALL Registry within a structured literature review of registries in rare genetic lipid disorders. A total of 11 relevant initiatives/registries were identified (homozygous Familial Hypercholesterolemia (hoFH) [n = 5]; LPLD [n = 1]; Lysosomal Acid Lipase Deficiency [LALD, n = 1], detection of mutations in genetic lipid disorders [n = 4]). Besides one product registry in hoFH and the LALD registry, all other initiatives are local or country-specific. GENIALL is the first global prospective registry in LPLD that will collect physician and patient generated data on the natural course of LPLD, as well as long-term outcomes of gene therapy. Conclusion: There is a limited number of international initiatives focusing on the natural course of specific rare genetic lipid disorders. The GENIALL LPLD Registry could be the first step towards a future broader global initiative that collects data related to familial chylomicronemia syndrome and their underlying genetic causes. (C) 2016 Published by Elsevier Ireland Ltd.
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The impact of Lipoprotein Lipase Deficiency on health-related quality of life: a detailed, structured, qualitative study
BMC, 2017Co-Authors: Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S. Wierzbicki, Handrean SoranAbstract:Abstract Background Lipoprotein Lipase Deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the Lipoprotein Lipase pathway. It is characterised by chylomicronaemia, severe hypertriglyceridaemia and an increased risk of recurrent pancreatitis that often requires hospitalisation. This research aimed to improve our understanding of the debilitating impact that LPLD has on the daily lives of patients and their families. Methods The research comprised a 2-h interview with the patient and, where possible, a 1-h interview with a family member; a 1-week pre- and post-interview task (written and/or video diary); and a 30–45-min follow-up telephone interview. Feelings and thoughts at each stage of the disease journey were captured on a 0–10 rating scale, while the impact of disease on overall health status was measured via the EuroQoL 5 domains, 3 levels (EQ-5D-3L) questionnaire (descriptive and visual analogue scale). Results Of four patients identified, three (two female, one male) were recruited to participate in the study; the male patient did not complete the pre-interview task or consent to a family member interview. Demographics and medical history differed among patients in terms of age at symptom onset, their journey to LPLD diagnosis, treatments, the number of attacks of pancreatitis and lengths of hospitalisations. Health-related quality of life, assessed by the EQ-5D-3L, was poor during acute attacks of pancreatitis but was minimally impacted by their condition at interview. Patients described feeling apprehensive, frightened, anxious, depressed or frustrated during and after hospitalisations; spouses of the two female patients also reported being worried or afraid. LPLD affected many aspects of daily living, including diet; socialising and building relationships; state of mind (fear of another attack of pancreatitis or lack of disease control); college and working life (through absenteeism and consequent financial implications); and being reliant on family and friends for support. Conclusions The interviews of the three patients with LPLD highlighted several concerns and emphasised the need for improved education, support, dietary advice and appropriate disease management. Additional support services would ease the fear and uncertainty surrounding attacks of pancreatitis, and would allow for improved treatment during hospitalisations
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The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in Lipoprotein Lipase Deficiency.
Atherosclerosis, 2016Co-Authors: Elisabeth Steinhagen-thiessen, Erik S.g. Stroes, Michaela Dippel, Handrean Soran, Colin Johnson, Philippe Moulin, Giorgio Iotti, Marco Zibellini, Bas Ossenkoppele, Maurizio AvernaAbstract:Abstract A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera ® ) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of its Risk Management Plan. The aim of this publication is to introduce the GENIALL Registry within a structured literature review of registries in rare genetic lipid disorders. A total of 11 relevant initiatives/registries were identified (homozygous Familial Hypercholesterolemia (hoFH) [n = 5]; LPLD [n = 1]; Lysosomal Acid Lipase Deficiency [LALD, n = 1], detection of mutations in genetic lipid disorders [n = 4]). Besides one product registry in hoFH and the LALD registry, all other initiatives are local or country-specific. GENIALL is the first global prospective registry in LPLD that will collect physician and patient generated data on the natural course of LPLD, as well as long-term outcomes of gene therapy. Conclusion : There is a limited number of international initiatives focusing on the natural course of specific rare genetic lipid disorders. The GENIALL LPLD Registry could be the first step towards a future broader global initiative that collects data related to familial chylomicronemia syndrome and their underlying genetic causes.
Bernard Cantin - One of the best experts on this subject based on the ideXlab platform.
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hemolysis in primary Lipoprotein Lipase Deficiency
Metabolism-clinical and Experimental, 1995Co-Authors: Bernard Cantin, L.d. Brun, M.r. Ven Murthy, Claude Gagné, Paul-j. Lupien, Sophie Boudriau, Michel Bertrand, Peter Rogers, Pierre JulienAbstract:A slight to moderate hemolysis is often present in plasma from patients with primary Lipoprotein Lipase (LPL) Deficiency. To determine the nature of this hemolysis, we measured erythrocyte hypo-osmotic fragility, plasma free hemoglobin, and phospholipid composition in 26 patients with primary LPL Deficiency and 21 unrelated controls. In some patients, these investigations were completed by erythrocyte cytoskeletal protein determinations and abdominal echography. Osmotic fragility was similar between control subjects and patients. However, there was a significantly increased concentration of plasma free hemoglobin in primary LPL Deficiency (0.282 ± 0.331 v 0.048 ± 0.038 g/L in controls, P < .005). In LPL-deficient patients, an increase of plasma lysophosphatidylcholine concentration (12.6% ± 5.8% v 6.4% ± 1.9% in controls, P < .0001) was also found. The protein composition of the erythrocyte membrane skeleton was abnormal in some LPL-deficient patients and splenomegaly was present in 12, but these abnormalities did not correlate with plasma free hemoglobin levels. Bilirubin and haptoglobin levels were also within physiologic ranges in these patients, suggesting that the observed hemolysis did not result from hypersplenism. It appears likely that the accumulation of lysophosphatidylcholine was due to an impairment in the reverse metabolic pathway converting lysophosphatidylcholine back to phosphatidylcholine. Collectively, these data, along with a positive correlation between plasma free hemoglobin and lysophosphatidylcholine levels (r = .58, P = .0001), suggest that the hemolysis observed in primary LPL Deficiency is mediated to some extent by the abnormally elevated concentration of lysophosphatidylcholine.
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Alterations in erythrocyte membrane lipid composition and fluidity in primary Lipoprotein Lipase Deficiency.
Biochimica et Biophysica Acta, 1992Co-Authors: Bernard Cantin, L.d. Brun, M.r. Ven Murthy, Claude Gagné, Paul-j. Lupien, Pierre JulienAbstract:Abstract Lipid composition of plasma Lipoproteins and erythrocyte ghost membranes has been studied in 16 healthy normolipidaemic subjects and in 16 patients affected by primary Lipoprotein Lipase Deficiency, resulting in severe chylomicronaemia and in cholesterol-depleted low-density Lipoproteins and high-density Lipoproteins. A significant decrease in membrane cholesterol/phospholipid ratio was observed in Lipoprotein Lipase deficient patients compared to controls (3.27 ± 0.33 vs. 3.95 ± 0.50, mean ± S.D.; P P