1 - Grupo de Investigação Cardiovascular, Unidade I&D, Departamento de Promoção da Saúde e Doenças Crónicas, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa 1649-040, Portugal;
2 - BioISI– Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, Lisboa,
3 - Unidade de Doenças Metabólicas - Hospital de Dona Estefânia, CHLC, Lisboa,
4 - Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, CHLN E.P.E., Centro Académico de Medicina de Lisboa, Lisboa,
5 - Serviço de Pediatria Hospital de Santa Maria Maior, Barcelos,
6 - Serviço de Pediatria / Nutrição Pediátrica, Departamento da Infância e Adolescência, Centro Materno-Infantil do Norte (CMIN), Porto,
7 - Serviço Endocrinologia, Hospital Egas Moniz, CHLO, Lisboa,
8 - Serviço de Pediatria, Hospital de Santa Maria, CHLN, Lisboa,
9 - Serviço de Pediatria, Centro Hospitalar de São João, Porto,
10 - Centro de Investigação em Tecnologias e Serviços de Saúde (CINTESIS), Faculdade de Medicina, Universidade do Porto, Porto.
- 86th Congress of the European Atherosclerosis Society (Poster)
- Lisboa, 5 a 8 de Maio 2018
Resumo:
Dyslipidemia is a disorder of lipid metabolism, characterized by either an increase or decrease in lipid particles. Since 2009, the Cardiovascular Investigation Group has been studying rare dyslipidaemias since there were no studies about these disorders in our country.
The aim of this study is to review all cases with rare dyslipidemia, either already studied or ongoing in our laboratory.
Lipid profile was determined for each index case and relatives, and molecular analysis of the genes involved in the presented phenotype, was performed by PCR amplification and Sanger sequencing. This study includes 19 index cases, with the following clinical diagnoses: Familial lipoprotein lipase deficiency (4), Familial partial lipodystrophy, Dunningan Type 2 (2), Lysosomal acid lipase deficiency (3), Abeta /hypobetalipoproteinemia (2), HDL deficiency (1), Autosomal recessive hypertriglyceridemia (3), Sitosterolaemia (2) and dysbetalipoproteinemia (2).
It was possible to find the genetic cause of the disease in 14/19 patients (74%), and the remaining are still under study. In one severe case of hypertriglyceridaemia and one hypobetaliproteinemia a causative variant could not be found although several genes have been studied. For these cases an exome sequencing studied is being discussed. Additionally, cascade screening lead to the identification of another 11 patients (1 sitosterolaemia, 1 LALD and 9 lipodystrophy).
Patients with the rare dyslipidemias presented here, have an increased risk of having other serious disorders such as pancreatitis, cardiovascular disease or neurological complications and should, therefore, be identified as early as possible in order to minimize or prevent the adverse effects of these conditions.