ABETALIPOPROTEINEMIA

Course overview

ABETALIPOPROTEINEMIA IS A RARE AUTOSOMAL RECESSIVE DISORDER MARKED BY LOW OR ABSENT LEVELS OF PLASMA CHOLESTEROL, LOW-DENSITY LIPOPROTEINS AND VERY-LOW-DENSITY LIPOPROTEINS. IT SHOULD NOT BE CONFUSED WITH A DEFICIENCY IN BETA-LIPOPROTEINS. HALLMARK SYMPTOMS INCLUDE FAT MALABSORPTION, SPINOCEREBELLAR DEGENERATION, ACANTHOCYTOSIS, AND RETINITIS PIGMENTOSA. THIS ACTIVITY REVIEWS THE ETIOLOGY, EPIDEMIOLOGY, PATHOPHYSIOLOGY, EVALUATION AND TREATMENT CONSIDERATIONS OF THIS DISEASE, AND HIGHLIGHTS THE ROLE OF THE COLLABORATION BETWEEN INTERPROFESSIONAL TEAM MEMBERS.