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2018: Advanced Course in Rare Lipid Disease - Barcelona
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Advanced Course on Rare Dyslipidaemia and Atherosclerosis - Importance of Personalized Medicine and Differential Diagnosis

Date: Thursday, September 27, 2018.   

Venue: University of Barcelona. Aulari. Campus de Bellvitge. c/Feixa Llarga s/n. 08907 Hospitalet de Llobregat. Barcelona. Spain.

Aim: The aim of this course is to examine other, less common genetic disorders of lipid metabolism including ß-sitosterolemia; cerebrotendinous xanthomatosis, lysosomal acid lipase deficiency, disorders of high density lipoprotein and familial hypocholesterolemias. While the prevalence of these individual disorders is low, collectively they are important and the busy practitioner will encounter patients with these conditions. Lipidologists need to be familiar with their diagnosis and treatment as they may be associated with high morbidity and mortality. The objective of this course is to review practical aspects of evaluation and management, and to describe real clinical cases of these disorders.

Organized By:

  • Unitat de Lipids I, Risc Vascular. Servei de Medicina Interna. Hospital Universitari de Bellvitge. Universitat de Barcelona. CiberObn. Fipec. Idibell.
  • Endorsed by European Atherosclerosis Society

Course language: Spanish, one or two presentations may be in English

Audience numbers: 25-30 persons

If you are interested in this course please contact Cristina Blasco ( or Valentina Coppola ( to learn more and to apply.


 Thursday September 27, 2018
08.30-08.45 Welcome
08.45-09.15 Rare dyslipidemia and atherosclerosis. An overview.   
X. Pintó
09.15-09.55  The clinical and experimental laboratory in the study of rare dyslipidemia.
J. Ribalta. T. Padró
09.55-10.35  Sitosterolemia. The role of non-cholesterol sterols in the genesis of dyslipidemia, xanthomatosis and atherosclerosis.
C. Soler.
Case report: H. Lafuente
10.35-11.05  Genetic basis of familial chylomicronemia syndrome and dysbetalipoproteinemia.
B. Candas. A. Padró.
Case report: V. Esteve
11.05-11.35 Coffee break
11.35-12.15 Hyperlipoproteinemia(a). Why if it is not so rare, do we consider it so rarely?
JC Pedro Botet.
Case report: A. Amor

12.25-13.05 Rare disorders of HDL metabolism. Familial hypoalphalipoproteinemia, Tangier disease, and LCAT deficiency. Gaucher disease.
L. Masana.
Case reports: X. Solanich Familial hypocholesterolemias (familial hypobetalipoproteinemia, abetalipoproteinemia, PCSK9 loss of function mutations, familial combined hypolipidemia, and chylomicron retention disease).
N. Alonso.
Case report: M. Fanlo
13.45-15.00 Lunch
14.45-15.25 Homozygous familial hypercholesterolemia. New insights and guidance for clinicians.
A. Zamora.
Case report: R. Figueras
15.25-16.05 Lysosomal acid lipase deficiency. Cerebrotendinous xanthomatosis. Fabry disease.
D. Ibarretxe.
Case record: N. Plana
16.05 Closing remarks and take-home messages.
Pintó X.

Acknowledgement: support for this educational activity has been provided by Alexion. 

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