Abetalipoproteinemia: Report of Two Cases

Document Type : Case report



Introduction: Abetalipoproteinemia is a rare disorder of lipoprotein metabolism, which causes low levels of cholesterol and absence or very low levels of LDL and VLDL. This rare autosomal recessive disorder is characterized by lipid malabsorption, spinocerebellar degeneration, acanthocytosis and retinopathy. In this study two cases of this disorder presented with severe malabsorption and abdominal distention, which mimicked celiac and fibrocystic diseases were reported.


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