Disorders of bile acid and cholesterol metabolism Save
ICD-10 code: E78.7
Chapter: Endocrine, nutritional and metabolic diseases
Disorders of Bile Acid and Cholesterol Metabolism
Bile acid and cholesterol metabolism are crucial processes in the human body. Bile acids are synthesized from cholesterol in the liver and play a vital role in the digestion and absorption of fats. Cholesterol, on the other hand, is a crucial component of cell membranes and is also a precursor to various hormones and vitamins.
However, when these metabolic processes are disrupted, they can lead to various disorders that can affect an individual's health and well-being.
Disorders of Bile Acid Metabolism
- Bile Acid Synthesis Disorders: These disorders involve the inability of the liver to synthesize bile acids, leading to their deficiency in the body. This can result in liver damage, fat malabsorption, and vitamin deficiencies.
- Bile Acid Malabsorption: This disorder involves the impaired absorption of bile acids in the small intestine, leading to diarrhea and malnutrition. This can be caused by various factors, including gastrointestinal diseases, medications, or surgery.
- Bile Acid Transport Disorders: These disorders involve the impaired transport of bile acids from the liver to the small intestine. This can result in liver damage, cholestasis, and jaundice.
Disorders of Cholesterol Metabolism
- Familial Hypercholesterolemia: This is an inherited disorder that leads to high levels of LDL cholesterol in the blood, which can increase the risk of heart disease. It is caused by mutations in genes that regulate the metabolism of cholesterol.
- Sitosterolemia: This is a rare disorder that leads to the accumulation of plant sterols in the blood, which can increase the risk of heart disease and premature atherosclerosis. It is caused by mutations in genes that regulate the absorption and excretion of plant sterols.
- Hypocholesterolemia: This disorder involves abnormally low levels of cholesterol in the blood, which can increase the risk of infections, bleeding disorders, and neurological problems.
Overall, disorders of bile acid and cholesterol metabolism can have significant impacts on an individual's health and quality of life. It is crucial to diagnose and treat these disorders promptly to prevent further complications.