Low LDL (Hypobetalipoproteinemia):
Very low LDL is a life threatening conditions that is almost often fatal. This can occur due to 2 inherited disorders of lipoprotein metabolism; abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL). Although these people have almost zero chances of developing heart disease, they develop fatty liver and severe vitamin E deficiency. People with this condition exhibit fat malabsorption, acanthocytic RBCs, spinal-cerebral degeneration and growth retardation. Their lifespan is approximately 30 years. With early detection, vitamin E and MCT supplementation, their lifespan may be prolonged and neurological damage delayed. These disorders result from microsomal triglyceride transfer proteins (MTP) and apolipoprotein B (Apo B) mutations during embryonic fetal development. Non familial forms of these mutations can occur as a result of chronic liver disease, occult malignancy and malnutrition. Although this is a very deliberating condition and infants born with it die due to failure to thrive, it’s a very rare inborn error of lipoprotein metabolism. Clinical manifestation includes failure to thrive, mental retardation, ophthalmological abnormalities and gastroenterological disorders.
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