A Rare Combination of Stomatocytosis with Abnormal Blood Lipids and Gilbert's Syndrome
Journal Title: Chettinad Health City Medical Journal - Year 2017, Vol 6, Issue 1
Abstract
Stomatocytosis is a rare hemolytic disorder occurring due to abnormal lipid bilayer of RBC membrane. In a suspected hemolytic disorder, unconjugated hyperbilirubinemia out of proportion to drop in hemoglobin suggests a probable underlying Bilirubin uptake/ metabolism problem in liver. Gilbert’s syndrome is the commonest among them. Though genetic testing can be used to confirm it, it is generally a clinical diagnosis in a patient with indirect hyperbilirunemia and normal liver and hematological tests. Single dose Rifampicin test may be used for confirming the diagnosis. Association of abnormal serum lipids and RBC lipids have been found in Abetalipoproteinemia in which Acanthocytes (spur cells) are seen. Here we present a 25 years male who had abnormally low serum lipid levels and stomatocytes presenting as hemolytic jaundice.
Authors and Affiliations
Vigneshwaran J, Malligai E, Rajasekaran D, Mohammed N
Keywords
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