Article Text

PDF
P69 Chilomycrons retention disease (anderson disease)
  1. DR Veronica Dobre,
  2. Cristian Minulescu
  1. SRPed

Abstract

Chylomicron retention disease – a rare disease with a simple diagnosis

Introduction Chylomicron retention disease is a rare type of familial hypocholesterolemia (approximately 40 cases described worldwide), characterised by malnutrition, growth failure, vitamin E deficiency and hepatic, neurologic and ophtalmologic complications. Diagnosis is often delayed because symptoms are nonspecific and hypocholesterolemia may be attributed to malnutrition secondary to chronic diarrhoea.

Materials and methods We present the case of a 11 years old patient who met all the diagnostic criteria, including serum cholesterol level consistently lower than 100 mg/dl. The abnormal lipid profile established the diagnosis, after which after which treatment was initiated by low fat diet and high doses of fat soluble vitamins.

Results The patient was very compliant and followed the recommendations very strictly. Accordingly, hepatic steathosis decreased, but unfortunately the neurologic and ophatlomogic problems persisted.

Conclusion While this rare disease is easily diagnosed, it is important that the diagnosis is rapidly established in order to avoid neurologic and ophthalmologic long term complications.

Statistics from Altmetric.com

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.