Primary hipercholesterolaemia - Two clinicai case reports

• Autor(a) principal: Silva, Amílcar
• Data de Publicação: 1999
• Outros Autores: Fortuna, Jorge, Moura, Veiga, Miranda, Odete, Coelho, Álvaro, Ferreira, Mário Rui, Miraldo, Manuel
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://revista.spmi.pt/index.php/rpmi/article/view/2067
• topic: hipercolesterolemia familiar; heterozigótica; homozigótica; critérios de diagnóstico; terapêutica; hypercholesterolaemia familial; heterozygous form; diagnostic criteria; treatment; homozygous form

The authors describe two clinicai case of familiai hypercholesterolaemia, diagnosed at the H.T.A./ Dyslipidaemia consultation in the C.H.C.(Centro Hospitalar de Coimbra). The first case refers to a 38 years old male patient, exhibiting the following characteristics: total cholesterol (TC) 422 mgldl, HDL cholesterol (CHDL) 32 mgldl, LDL cholesterol 320 mgldl (CLDL), TCIHDL cholesterol ratio =13.18, apoprotein B (ApoB) 190 mgldl. The second case refers also to a 28 years old ma/e patient, a professional football player exhibiting tendon and skin xanthomas and xantelasmas, whose laboratory analyses have revealed the following results: TC 623 mgldl, CLDL 567 mgldl, CHDL 23 mgldl, TCIHDL cholesterol ratio=24.47, TG 182 mgldl, Apo B 313 mgldl and Lp(a) 4.75 mgldl. Family studies have revealed that some relatives of these patients exhibit similar lipid and lipoproteic profiles which confirmed two cases to suffer from familiai hypercholesterolaemia - one case in the heterozygous form and the other in the homozigous form. The authors also take into consideration the genetics, diagnostic, treatment and prognostic related to these cases.