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Deficiencia familiar de lipoproteinlipasa - Symptom

Nombres alternativos

Hiperlipoproteinemia tipo I; Quilomicronemia familiar

Síntomas:

Dolor abdominal (puede manifestarse como cólico en la lactancia)
Inapetencia
Náuseas
Dolor en los músculos y huesos (dolor musculoesquelético)
Vómitos

Pruebas y exámenes:

Los signos de esta afección abarcan:

Hepatomegalia.
Retraso del desarrollo en la lactancia.
Depósitos de grasa en la piel (xantomas).
Niveles altos de triglicéridos en la sangre.
Retinas pálidas y vasos blanquecinos en las retinas.
Pancreatitis que sigue reapareciendo.
Coloración amarillenta de los ojos y de la piel (ictericia).

Se harán exámenes de sangre para revisar los niveles de colesterol y triglicéridos. En raras ocasiones, se puede llevar a cabo un examen de sangre especial después de la administración de anticoagulantes a través de una vena. Este examen busca la actividad de la lipoproteinlipasa en la sangre.

Se pueden realizar pruebas genéticas, incluyendo una para la deficiencia de apolipoproteína CII.

Enfermedad de las arterias coronarias

Reviewed last on: 5/29/2011
David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Gennest J, Libby P. Lipoprotein disorders and cardiovascular disease. In: Bonow RO, Mann DL, Zipes DP, Libby P, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 9th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 47.

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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