Chylomicron retention disease
Chylomicron Retention Disease (kai-lo-mi-kron re-ten-shun di-zeez) is a rare genetic disorder that affects the body's ability to properly digest certain types of fat. The condition is also known as Anderson's Disease or Hypobetalipoproteinemia, Anderson type.
Etymology
The term "Chylomicron" is derived from the Greek words "chylos", meaning juice, and "mikros", meaning small. This refers to the small fat particles that are unable to be properly digested and absorbed in this condition. The term "retention" refers to the body's inability to properly excrete these particles.
Symptoms
The primary symptoms of Chylomicron Retention Disease include failure to thrive, steatorrhea (fatty, foul-smelling stools), and malnutrition. These symptoms are typically present from infancy.
Causes
Chylomicron Retention Disease is caused by mutations in the SAR1B gene. This gene provides instructions for producing a protein that is involved in the transport of chylomicrons (lipoprotein particles) from the intestines to the bloodstream.
Diagnosis
Diagnosis of Chylomicron Retention Disease is typically made through a combination of clinical examination, patient history, and specific laboratory tests. These tests may include a lipid panel, genetic testing, and sometimes a small intestine biopsy.
Treatment
Treatment for Chylomicron Retention Disease primarily involves dietary modifications to limit fat intake. In some cases, vitamin supplements may be necessary due to malabsorption.
Prognosis
With early diagnosis and appropriate management, individuals with Chylomicron Retention Disease can lead healthy lives. However, if left untreated, the disease can lead to serious complications such as neurological problems, liver disease, and growth retardation.
See Also
External links
- Medical encyclopedia article on Chylomicron retention disease
- Wikipedia's article - Chylomicron retention disease
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