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MTE01-IS-003 LCAT deficiency
181
Meet the Experts MTE1
EUROPEAN N E T W O R K FOR INHERITED DYSLIPIDAEMIAS
MTE01-1S-001 ] EUROPEAN N E T W O R K F O R INHERITED DYSLIPIDAEMIAS ( E N I D ) S. Humphries 1, O. Faergeman 2, O. Descamps 3 On behalf of the ENID Group. ~Cardiovascular Genetics, British Heart Foundation Laboratories
Royal Free and Universty College Medical School, United Kingdom," 2Department of Medicine and Cardiology, Aarhus Amtssygehus University Hospital, Denmark," ~Department of Medicine, Hopital de Jolimon~ Haine Saint-Pau~ Belgium The European network for inherited dyslipidaemias (ENID) have several aims: (1) to prepare treatment recommendations for a range of inherited dyslipidaemias; (2) to have annual updates of molecular diagnoses and treatment developments; (3) to establish a network of active clinicians within Europe who are prepared to be contacted to give advice about the diagnosis and treatment of these patients; (4) to develop a series of teaching modules based on patient cases which would be available on the EAS website as part of a distance learning programme. This initiative will supplement but not replace the involvement of the EAS in the joint European effort to develop and implement recommendations for prevention of cardiovascular disease. However, in analogy with the policy of societies such as the European Hypertension Society and the European Association for the Study of Diabetes, with which the EAS collaborates in joint European efforts, the EAS will develop recommendations for clinical management of severe and rare dyslipidaemias, just as recommendations are available for the detailed management of hypertension and diabetes.
MTE01-1S-002
/ d
H O W DO W E ENSURE THAT EUROPEAN PATIENTS W I T H RARE, INHERITED DYSLIPIDAEMIAS A R E C O R R E C T L Y DIAGNOSED AND TREATED?
O. Faergeman. Department of Medicine and Cardiology, Aarhus University Hospital, Aarhus, Denmark
Lowering LDL cholesterol by diet and drags has been accepted as a centrepiece in the prevention of cardiovascular disease. That process of general acceptance has, naturally enough, focused clinical attention on patients with common dyslipidaemias, and very few physicians know how to diagnose and treat patients with the very rare forms of dyslipidaemia, some of which are inherited. Because of geographic distance and other practical problems, moreover, even patients fortunate enough to have been seen by knowledgeable specialists can sometimes be lost to specialist follow-up. Thus, for example, patients with severe deficiency of lipoprotein lipase may once again, in a non-specialist setting, be given dietary advice including substantial intake of long-chain fatty acids, provided they are unsaturated. Analogous problems have, in my own experience, pertained to patients with LCAT deficiency and Tangier disease, and it is probably safe to guess that many patients with rare, inherited dyslipidaemias are not appropriately diagnosed or treated. It seems necessary, therefore, to discuss the various organizational options that could remedy that situation for most European patients with rare, inherited dyslipidaemias.
be composed of cholesterol and phospholipid, accumulate in many tissues including the cornea, kidneys, liver, spleen, bone marrow and arteries. Target cells containing abnormally high amounts of unesterified cholesterol and lecithin are present. In plasma high levels of unesterified cholesterol and phospholipids and low concentrations of plasma cholesteryl esters and lysophosphatidylchohne are detectable. Plasma triglycerides are normalhigh, low density lipoprotein (LDL) levels and low, and high-density lipoprotein (HDL) levels are very low. Lipoproteins have abnormal morphology, with the presence in plasma of multilamellar vesicles, rouleaux, discs, and small shperical particles. The diagnosis of FLD is confirmed by the almost complete lack of plasma LCAT activity in patients presenting with hypoalphalipoproteinemia, anemia, proteinuria, or renal disease. FED is characterized by corneal opacities. The plasma triglyceride levels are normal-high, and HDL levels are very low. The diagnosis of FED is confirmed by partial deficiency of LCAT activity in the plasma of patients presenting with corneal opacities and marked hypoalphalipoproteinemia.
MTEOI-IS-O04 I ORGANIZING DIAGNOSIS, T R E A T M E N T AND T R A C K I N G OF PATIENTS W I T H RARE DISORDERS
J.R. 13stergaard. Centre for Rare Diseases, Department of Pediatrics A,
University Hospital of Aarhus, DK-8200 Aarhus, Denmark. Every step within diagnosis, treatment and tracking of patients with a rare disorder puts in a certain claim for the health services. In order to manage this challenge a special organization is needed. In Denmark, centres have been estabhshed taking care of patients with specific seldom diagnosis. The majority of these disorders have a genetic background, and one of the aims of the centre is to track non diagnosed persons at risk. Once diagnosed, the patients need treatment and follow-up at a high level of specialization. In many of the rare genetic disorders, more than one organ is affected, and treatment therefore needs planning. Before the Centres were estabhshed, this planning was assigned to the patients themselves, and no medical person had the general view of the condition or had the impression of the patient as a "whole" person - only as a diseased heart or a diseased eye. Within the Centre one person has the full overview of the treatment and all information go through that person. This reduces the drop-outs. The treatment is in some cases so specialized, that the patients are only treated at the Centre. However, some of the regular examinations may he done at a local hospital under the supervision of the specialist of the Centre. This kind of shared care is important in order to the propagation of knowledge of the rare diseases. Otherwise, the staffs of the local hospitals in the country gradually loose their knowledge of existence of certain tare diseases, which make the tracking even more difficult. It is important, however, that the responsibility for the treatment and the follow-up is within the hand of the specialist at the Centre. Other important aspects of centralization is co-operation with centres from other countries, making research work, and ensure education of the next generation of the medical staff.
MTE4
PERIPHERAL
ARTERY
IS DIFFERENT
FROM
DISEASE
-
WHAT
CAD?
[ MTEO4-1S-O01 ] ATHEROSCLEROSIS O F ARTERIES O T H E R THAN CAROTIDES AND THOSE OF L O W E R EXTREMITIES
MTE01-1S-003 ] LCAT DEFICIENCY A.L. Catapano. Professor of Pharmacology, Director of the Center for the
Z. Reiner 1, E. Tedeschi-Reiner 2 . 1Department oflnternal Medicine,
Study of Atherosclerosis, Department of Pharmacological Sciences, University of Milan, Milano, Italy
University Hospital Centre Zagreb, Zagreb, Croatia; 2Department of Ophthalmology, University Hospital Sestre Milosrdnice, Zagreb, Croatia
Lecithin cholesterol acyltransferase (LCAT) is a plasma enzyme that esterifies free cholesterol present in circulating plasma lipoproteins. In LCAT deficiency two clinically distinct syndromes develop familial LCAT defciency (FLD) and fish eye disease (FED). FLD is a characterized by corneal opacities, anemia, and progressive renal failure. Foam cells and membrane-bound vesicles, which appear to
O b j e c t i v e : It has been proven that a good correlation exists between the extent of atherosclerotic disease in one arterial bed and involvement of other arteries, eg. changes of the carotid and femoral arteries correspond well to the extent and severity of coronary artery disease (CAD). We tried to find out whether such a correlation exists for other arteries as well. Our primary interest was retinal artery atherosclerosis (RAA).
75th EAS Congress, 23-26 April 2005, Prague, Czech Republic
[-n m "l[-n m X -o m 2o
Meet the Experts MTE1
EUROPEAN N E T W O R K FOR INHERITED DYSLIPIDAEMIAS
MTE01-1S-001 ] EUROPEAN N E T W O R K F O R INHERITED DYSLIPIDAEMIAS ( E N I D ) S. Humphries 1, O. Faergeman 2, O. Descamps 3 On behalf of the ENID Group. ~Cardiovascular Genetics, British Heart Foundation Laboratories
Royal Free and Universty College Medical School, United Kingdom," 2Department of Medicine and Cardiology, Aarhus Amtssygehus University Hospital, Denmark," ~Department of Medicine, Hopital de Jolimon~ Haine Saint-Pau~ Belgium The European network for inherited dyslipidaemias (ENID) have several aims: (1) to prepare treatment recommendations for a range of inherited dyslipidaemias; (2) to have annual updates of molecular diagnoses and treatment developments; (3) to establish a network of active clinicians within Europe who are prepared to be contacted to give advice about the diagnosis and treatment of these patients; (4) to develop a series of teaching modules based on patient cases which would be available on the EAS website as part of a distance learning programme. This initiative will supplement but not replace the involvement of the EAS in the joint European effort to develop and implement recommendations for prevention of cardiovascular disease. However, in analogy with the policy of societies such as the European Hypertension Society and the European Association for the Study of Diabetes, with which the EAS collaborates in joint European efforts, the EAS will develop recommendations for clinical management of severe and rare dyslipidaemias, just as recommendations are available for the detailed management of hypertension and diabetes.
MTE01-1S-002
/ d
H O W DO W E ENSURE THAT EUROPEAN PATIENTS W I T H RARE, INHERITED DYSLIPIDAEMIAS A R E C O R R E C T L Y DIAGNOSED AND TREATED?
O. Faergeman. Department of Medicine and Cardiology, Aarhus University Hospital, Aarhus, Denmark
Lowering LDL cholesterol by diet and drags has been accepted as a centrepiece in the prevention of cardiovascular disease. That process of general acceptance has, naturally enough, focused clinical attention on patients with common dyslipidaemias, and very few physicians know how to diagnose and treat patients with the very rare forms of dyslipidaemia, some of which are inherited. Because of geographic distance and other practical problems, moreover, even patients fortunate enough to have been seen by knowledgeable specialists can sometimes be lost to specialist follow-up. Thus, for example, patients with severe deficiency of lipoprotein lipase may once again, in a non-specialist setting, be given dietary advice including substantial intake of long-chain fatty acids, provided they are unsaturated. Analogous problems have, in my own experience, pertained to patients with LCAT deficiency and Tangier disease, and it is probably safe to guess that many patients with rare, inherited dyslipidaemias are not appropriately diagnosed or treated. It seems necessary, therefore, to discuss the various organizational options that could remedy that situation for most European patients with rare, inherited dyslipidaemias.
be composed of cholesterol and phospholipid, accumulate in many tissues including the cornea, kidneys, liver, spleen, bone marrow and arteries. Target cells containing abnormally high amounts of unesterified cholesterol and lecithin are present. In plasma high levels of unesterified cholesterol and phospholipids and low concentrations of plasma cholesteryl esters and lysophosphatidylchohne are detectable. Plasma triglycerides are normalhigh, low density lipoprotein (LDL) levels and low, and high-density lipoprotein (HDL) levels are very low. Lipoproteins have abnormal morphology, with the presence in plasma of multilamellar vesicles, rouleaux, discs, and small shperical particles. The diagnosis of FLD is confirmed by the almost complete lack of plasma LCAT activity in patients presenting with hypoalphalipoproteinemia, anemia, proteinuria, or renal disease. FED is characterized by corneal opacities. The plasma triglyceride levels are normal-high, and HDL levels are very low. The diagnosis of FED is confirmed by partial deficiency of LCAT activity in the plasma of patients presenting with corneal opacities and marked hypoalphalipoproteinemia.
MTEOI-IS-O04 I ORGANIZING DIAGNOSIS, T R E A T M E N T AND T R A C K I N G OF PATIENTS W I T H RARE DISORDERS
J.R. 13stergaard. Centre for Rare Diseases, Department of Pediatrics A,
University Hospital of Aarhus, DK-8200 Aarhus, Denmark. Every step within diagnosis, treatment and tracking of patients with a rare disorder puts in a certain claim for the health services. In order to manage this challenge a special organization is needed. In Denmark, centres have been estabhshed taking care of patients with specific seldom diagnosis. The majority of these disorders have a genetic background, and one of the aims of the centre is to track non diagnosed persons at risk. Once diagnosed, the patients need treatment and follow-up at a high level of specialization. In many of the rare genetic disorders, more than one organ is affected, and treatment therefore needs planning. Before the Centres were estabhshed, this planning was assigned to the patients themselves, and no medical person had the general view of the condition or had the impression of the patient as a "whole" person - only as a diseased heart or a diseased eye. Within the Centre one person has the full overview of the treatment and all information go through that person. This reduces the drop-outs. The treatment is in some cases so specialized, that the patients are only treated at the Centre. However, some of the regular examinations may he done at a local hospital under the supervision of the specialist of the Centre. This kind of shared care is important in order to the propagation of knowledge of the rare diseases. Otherwise, the staffs of the local hospitals in the country gradually loose their knowledge of existence of certain tare diseases, which make the tracking even more difficult. It is important, however, that the responsibility for the treatment and the follow-up is within the hand of the specialist at the Centre. Other important aspects of centralization is co-operation with centres from other countries, making research work, and ensure education of the next generation of the medical staff.
MTE4
PERIPHERAL
ARTERY
IS DIFFERENT
FROM
DISEASE
-
WHAT
CAD?
[ MTEO4-1S-O01 ] ATHEROSCLEROSIS O F ARTERIES O T H E R THAN CAROTIDES AND THOSE OF L O W E R EXTREMITIES
MTE01-1S-003 ] LCAT DEFICIENCY A.L. Catapano. Professor of Pharmacology, Director of the Center for the
Z. Reiner 1, E. Tedeschi-Reiner 2 . 1Department oflnternal Medicine,
Study of Atherosclerosis, Department of Pharmacological Sciences, University of Milan, Milano, Italy
University Hospital Centre Zagreb, Zagreb, Croatia; 2Department of Ophthalmology, University Hospital Sestre Milosrdnice, Zagreb, Croatia
Lecithin cholesterol acyltransferase (LCAT) is a plasma enzyme that esterifies free cholesterol present in circulating plasma lipoproteins. In LCAT deficiency two clinically distinct syndromes develop familial LCAT defciency (FLD) and fish eye disease (FED). FLD is a characterized by corneal opacities, anemia, and progressive renal failure. Foam cells and membrane-bound vesicles, which appear to
O b j e c t i v e : It has been proven that a good correlation exists between the extent of atherosclerotic disease in one arterial bed and involvement of other arteries, eg. changes of the carotid and femoral arteries correspond well to the extent and severity of coronary artery disease (CAD). We tried to find out whether such a correlation exists for other arteries as well. Our primary interest was retinal artery atherosclerosis (RAA).
75th EAS Congress, 23-26 April 2005, Prague, Czech Republic
[-n m "l[-n m X -o m 2o