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Disbetalipoproteinemia familiar - Symptom

Nombres alternativos

Hiperlipoproteinemia tipo III; Apolipoproteína E deficiente o defectuosa

Síntomas:

Es posible que los síntomas no se observen hasta la edad de 20 años o más.

Pueden aparecer depósitos amarillos de material graso en la piel llamados xantomas en los párpados, la palma de la mano, la planta del pie o en los tendones de las rodillas y los codos.

Se desarrolla ateroesclerosis a temprana edad. Se puede presentar dolor de pecho inicial (angina) o disminución del flujo sanguíneo a partes específicas del cuerpo, ocasionando ataques isquémicos transitorios del cerebro o arteriopatía periférica con claudicación.

Signos y exámenes:

Los exámenes que se pueden llevar a cabo para diagnosticar esta afección abarcan:

  • Reviewed last on: 5/23/2010
  • David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc., and David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine.

Referencias

Mahley RW, Weisgraber KH, Bersot TP. Disorders of lipid metabolism. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 36.

Semenkovich CF. Disorders of lipid metabolism. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 217.

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