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Familial chylomicronemia syndrome. A sixty year follow-up in two siblings and their kindreds. Nosological and clinical considerations.
Vigna, Giovanni B; Citroni, Nadia; Tarugi, Patrizia; Fellin, Renato.
Afiliação
  • Vigna GB; Medical Department, Azienda ULSS, 5 Polesana, Rovigo, Italy (Dr Vigna). Electronic address: vgg@unife.it.
  • Citroni N; Medicina Interna, Ospedale S., Trento, Italy (Dr Citroni). Electronic address: nadia.citroni@apss.tn.it.
  • Tarugi P; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy (Dr Tarugi). Electronic address: patriziamaria.tarugi@unimore.it.
  • Fellin R; Medical Department and Metabolic Unit, University of Ferrara, Ferrara, Italy (Dr Fellin).
J Clin Lipidol ; 16(5): 591-595, 2022.
Article em En | MEDLINE | ID: mdl-35945124
Familial chylomicronemia syndrome (FCS) is a rare and severe genetic disorder, characterized by marked elevation of plasma triglycerides, often diagnosed in infancy. We describe the long-term follow-up (almost 60 years), the diagnostic assessment and the management of two siblings with severe hypertriglyceridemia and a history of pancreatitis who also developed cardiovascular complications later in life. We recently disclosed that the surviving index case was homozygous for a pathogenic LPL gene variant (c.984 G>T, p.M328I). The same variant was also found in two apparently unrelated siblings with FCS living in the same geographical area as the index case.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipertrigliceridemia / Hiperlipoproteinemia Tipo I Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipertrigliceridemia / Hiperlipoproteinemia Tipo I Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article