Primary hipercholesterolaemia - Two clinicai case reports

Authors

  • Amílcar Silva Interno do Internato Complementar de Medicina Interna, Serviço de Medicina Interna do Centro Hospitalar de Coimbra
  • Jorge Fortuna Interno do Internato Complementar de Medicina Interna, Serviço de Medicina Interna do Centro Hospitalar de Coimbra
  • Veiga Moura Interno do Internato Complementar de Medicina Interna, Serviço de Medicina Interna do Centro Hospitalar de Coimbra
  • Odete Miranda Assistente Hospitalar Eventual de Medicina Interna, Serviço de Medicina Interna do Centro Hospitalar de Coimbra
  • Álvaro Coelho Assistente Hospitalar Graduado de Medicina Interna, Serviço de Medicina Interna do Centro Hospitalar de Coimbra
  • Mário Rui Ferreira Chefe de Serviço de Medicina Interna, Serviço de Medicina Interna do Centro Hospitalar de Coimbra
  • Manuel Miraldo Director do Serviço de Medicina Interna, Serviço de Medicina Interna do Centro Hospitalar de Coimbra

Keywords:

hypercholesterolaemia familial, heterozygous form, diagnostic criteria, treatment, homozygous form

Abstract

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.

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References

Durrington PN. Lipid and Lipoprotein Disorders. Osford Texbook of Medicine -Third Edition. 1996; (2) 1399-1415.

Thompson GR. - Primary Hypercolesterolaemia. A Handbook of Hyperlipidaemia 1992; 113-125.

Witzfum JL, Steinberg D. Disorders ofLipid Metabolism-Cecil Textbook ofMedicine - 20th Edition. 1996;1086-1095.

Assmann G. Lipid Metabolism disorders and coronary Heard Disease. 1993:93-111.

Silva PM. Critérios de Diagnóstico de Dislipidemias Primária. Acta Med Port 1995;8(2):91-92.

Dunitz M. Lipid and Lipoprotein. Diabetes and Lipid. 1994:11-21.

Valdivielso P, Escolar JL, Cuervas-Monsv. Lipids and lipoprotein changes after haret and liver transplantation in a patient with homozygous familial hypercholesterolaemia. Ann Inter Med 1988; 108(2): 204-206

Vinson RP, Harrington AC. Clinical significance and treatment of xanthomas. American Family Physician 1991;44(4): 1206-1210.

Teruel JL, Lasuncion MA. Cutaneous xanthomas in homozygous familial hypercholesterolemia. New EngJ Med 1995; 332:27.

Claudio N, Faca GA. Am Heart J 1997;133(5): 223-225.

Additional Files

Published

1999-09-30

How to Cite

1.
Silva A, Fortuna J, Moura V, Miranda O, Coelho Álvaro, Ferreira MR, Miraldo M. Primary hipercholesterolaemia - Two clinicai case reports. RPMI [Internet]. 1999 Sep. 30 [cited 2024 May 21];6(3):159-63. Available from: https://revista.spmi.pt/index.php/rpmi/article/view/2067

Issue

Vol. 6 No. 3 (1999): Julho/ Setembro

Section

Case Reports

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