Lysosomal acid lipase deficiency in children with liver disease
Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of fats (lipids) accumulate in cells and tissues throughout the body, which typically causes liver disease. The disorder is often misdiagnosed or remains undiagnosed in children and adults due to a rather unspecific clinical presentation with dyslipidemia and steatohepatitis. Until recently, no good treatment options were available for LALD.
The prevalence of Lysosomal acid lipase deficiency in patients with liver disease of unknown origin; to evaluate the activity of LAL in patients with known liver disease; to evaluate the relation between Lysosomal acid lipase deficiency activity and severity of liver disease (ALT level), dyslipidemia and other parameters of metabolic syndrome.
Infants may present with feeding difficulties with frequent vomiting, diarrhea, swelling of the abdomen, and failure to gain weight or sometimes weight loss. As the disease progresses in infants, increasing fat accumulation in the liver leads to other complications including yellowing of the skin and whites of the eyes (jaundice), and a persistent low-grade fever. An ultrasound examination shows the accumulation of chalky material (calcification) in the adrenal gland in about half of infants with LAL-D. Complications of LAL-D progress over time, eventually leading to life-threatening problems such as extremely low levels of circulating red blood cells (severe anemia), liver dysfunction or failure, and physical wasting (cachexia)
Diagnosis, blood tests may show anemia and their lipid profiles are generally similar to people with more common familial hypercholesterolemia, including elevated total cholesterol, elevated low-density lipoprotein cholesterol, decreased high-density lipoprotein cholesterol, and elevated serum transaminases
Treatment of LAL deficiency is currently limited to control of cholesterol levels and to prevent premature atherosclerosis. The use of enzyme replacement therapy with recombinant human LAL in short-term studies has shown to be safe and effective.
