Chylomicron Retention Disease is a rare genetic condition caused by a defect in the SAR1B gene where the body has trouble absorbing and transporting fat from food. This may result in a number of symptoms, including:

  • Vomiting or diarrhea
  • Foul smelling or pale colored stool
  • Poor growth and development -may be referred to as ” failure to thrive”
  • Trouble digesting fatty foods

Other possible signs and symptoms

As patients get older other symptoms may develop due in large part to the vitamin deficiencies related to Chylomicron Retention Disease.

  • Potential neurologic symptoms including poor balance (Ataxia)
  • Minimal visual abnormalities

Signs and symptoms doctors can test for

In a clinical setting there are some signals that a child with Chylomicron Retention Disease would exhibit through observation and some simple clinical tests and markers.

  • Low cholesterol level
  • Normal triglyceride level
  • Low levels of vitamins E and A
  • Elevated creatine kinase level

Getting a Diagnosis

A diagnosis of Chylomicron Retention Disease typically begins with a clinical examination and tests such as a lipid profile and vitamin level testing. Further tests may include an intestinal biopsy and a genetic profile specifically examining the SAR1B gene.

Common Misdiagnoses

Chylomicron Retention Disease could be misdiagnosed as a number of other conditions including vitamin deficiencies, Celiac Disease, Freidreich’s Ataxia, Chronic Pancreatitis, or other lipid metabolic disorders.

Possible Treatment Options

Unlike many rare diseases, Chylomicron Retention Disease is treatable. Possible treatments and therapies may include, but are not limited to:

  • Adherence to a very low fat diet
  • Administration of high doses of Vitamins A, E, K, and possibly D
  • Regular Ophthalmological Exams
  • Electrocardiograms (ECG)
  • Nerve conduction studies

Letters Regarding Vitamin Therapies

Below are letters written by our medical advisory board that can be given to doctors or insurance companies illustrating the need for vitamin therapies in high doses to treat these illnesses.

Published Articles Related To CMRD

Below are some articles published in medical journals and other media relating to CMRD

CMRD On The Web

Below are websites with more information about Chylomicron Retention Disease

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