Disorder of lipid absorption and transport

Disorder of lipid absorption and transport is a group of rare inherited conditions that affect how your body takes in fats (lipids) from food and moves them through the bloodstream. Lipids include cholesterol, triglycerides, and fatty acids, which are essential for energy, building cell membranes, and making hormones. In these disorders, the body either cannot properly absorb fats from the intestines or cannot package and transport them in the blood using special carrier proteins called lipoproteins. People with these conditions often experience problems starting in infancy or childhood, including chronic diarrhea, fatty or greasy stools (steatorrhea), poor weight gain, and failure to thrive. Because fat-soluble vitamins (A, D, E, and K) depend on fat absorption, deficiencies in these vitamins are common and can lead to serious complications such as vision problems, nerve damage, bone weakness, and bleeding disorders. Some forms of these disorders also cause very low cholesterol levels in the blood, fatty liver disease, and progressive neurological problems. Treatment focuses on managing symptoms and preventing complications. This typically includes a special low-fat diet supplemented with medium-chain triglycerides (MCTs), which are absorbed differently and can bypass the defective pathway. High-dose fat-soluble vitamin supplementation is critical to prevent or slow neurological and eye damage. With early diagnosis and consistent treatment, many patients can have improved outcomes, though lifelong management is usually required. The specific prognosis depends on which exact condition within this group a person has.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.What specific type of lipid absorption disorder does my child (or I) have, and which gene is affected?,What are the target blood levels for fat-soluble vitamins, and how often should they be checked?,What specific doses of vitamins A, D, E, and K should be taken, and in what form?,How much fat is safe to eat, and should I work with a specialized dietitian?,What neurological and eye complications should I watch for, and how often should screening happen?,Are there any clinical trials or new treatments being studied for this condition?,Should other family members be tested, and what is the chance of passing this to future children?

Common questions about Disorder of lipid absorption and transport

Related conditions

Other rare diseases commonly researched alongside Disorder of lipid absorption and transport.

• Tangier disease→