Browsing by Author "Lobarinhas, G."
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- Characterization of pediatric patients from Portuguese FH studyPublication . Abrantes, LB.; Alves, A.C.; Medeiros, A.M.; Correia, S.; Cruz, A.; Lobarinhas, G.; Garcia, P.; Guerra, A.; Mansilha, H.; Martins, E.; Martins, P.; Salgado, J.; Bourbon, M.; on behalf of investigators of Portuguese FH studyThe Portuguese FH Study (PFHS) started in 1999. The aim of the PFHS is to identify the cause of dyslipidemia in patients with a clinical diagnosis of FH. To date, 452 pediatric patients were referred to us, 288 of which are index patients. The aim of this study was to analyse the lipid profile and molecular diagnosis of children recruited for the PFHS.
- Diagnóstico genético da diabetes tipo MODY (Maturity-onset diabetes of the young) em PortugalPublication . Gaspar, G.; Seuanes, F.; Duarte, J.S.; Rodrigues, D.; Moreno, C.; Gouveia, S.; Lobarinhas, G.; Bogalho, A.P.; Agapito, A.; Fonseca, F.; Castro, S.V.; Almeida, B.; Bourbon, M.
- Diagnóstico genético da diabetes tipo MODY (Maturity-onset diabetes of the young) em PortugalPublication . Gaspar, G.; Seuanes, F.; Duarte, J.S.; Rodrigues, D.; Moreno, C.; Gouveia, S.; Lobarinhas, G.; Bogalho, A.P.; Agapito, A.; Fonseca, F.; Castro, S.V.; Almeida, B.; Bourbon, M.
- Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia?Publication . Chora, J.R.; Alves, A.C.; Medeiros, A.M.; Mariano, C.; Lobarinhas, G.; Guerra, A.; Mansilha, H.; Cortez-Pinto, H.; Bourbon, M.Highlights: - Dyslipidemia phenotype of patients with familial hypercholesterolemia and lysosomal acid lipase deficiency (LALD) can overlap; - Familial hypercholesterolemia negative patients should be investigated to identify possible LALD patients; - Correct identification of LALD patients is important for patient prognosis. Background: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD. Objective: The aim of this study was to investigate LALD in individuals with severe dyslipidemia and/or liver steatosis. Methods: Coding, splice regions, and promoter region of LIPA were sequenced by Sanger sequencing in a cohort of mutation-negative familial hypercholesterolemia (FH) patients (n = 492) and in a population sample comprising individuals with several types of dyslipidemia and/or liver steatosis (n = 258). Results: This study led to the identification of LALD in 4 children referred to the Portuguese FH Study, all with a clinical diagnosis of FH. Mild liver dysfunction was present at the age of FH diagnosis; however, a diagnosis of LALD was not considered. No adults at the time of referral have been identified with LALD. Conclusion: LALD is a life-threatening disorder, and early identification is crucial for the implementation of specific treatment to avoid premature mortality. FH cohorts should be investigated to identify possible LALD patients, who will need appropriate treatment. These results highlight the importance of correctly identifying the etiology of the dyslipidemia.
- Pediatric Familial HypercholesterolaemiaPublication . Abrantes, L.B.; Alves, A.C.; Medeiros, A.M.; Correia, S.; Cruz, A.; Ferreira, A.C.; Lobarinhas, G.; Garcia, P.; Guerra, A.; Mansilha, H.; Martins, E.; Martins, P.; Salgado, J.M.; Bourbon, M.; on behalf of investigators of Portuguese FH StudFamilial hypercholesterolemia (FH) is an autosomal dominant disorder associated with high levels of LDL-c and premature CHD (pCHD). Identification of FH in pediatric age is essential for a timely diagnosis and management. This study aims to highlight the importance of FH diagnosis in children.
- Will Familial Hypercholesterolaemia Cohorts Hide Many More Lisosomal Acid Lipase Deficiency Patients?Publication . Chora, J.R.; Alves, A.C.; Medeiros, A.M.; Mariano, C.; Lobarinhas, G.; Guerra, A.; Mansilha, H.; Bourbon, MafaldaAims: Lisosomal Acid Lipase Deficiency (LALD), historical known as Cholesterol Ester Storage Disease (CESD), is an autosomal lisosomal storage recessive disorder and an unrecognized cause of dyslipidaemia. Mutations in LIPA gene are the underlying cause of LALD, being a mutation in the splice site of exon 8 the most common cause of the disease. Patients with LALD present dyslipidaemia and altered liver function. The aim of this work was to analyze LIPA gene in patients with unexplained dyslipidaemia.