In a study published in the scientific journal Atherosclerosis, a team of researchers sought to screen patients in Japan who had abnormally high LDL cholesterol (LDL-C) and a suspected diagnosis of familial hypercholesterolemia (FH) for a rare disease called lysosomal acid lipase deficiency (LALD).
The study was initiated based on the suspicion that some of the patients with suspected familial hypercholesterolemia actually has LALD instead. Data from Europe indicates a prevalence rate of anywhere from 1 in 9000 to 1 in 170000 per live births for lysosomal acid lipase deficiency, but less than 10 cases of the disease had been recorded from Japan in scientific literature.
The research team looked at data from 553 patients and used a blood test to evaluate lysosomal acid lipase activity, with low or absence of activity suggesting the presence of the deficiency disorder. From this group, only a single LALD patient was identified. This patient was 18 years old, female, and had very high LDL-C that was resistant to statin treatment. This individual also presented with liver dysfunction and abnormally low LAL activity. This patient then began treatment with an enzyme replacement therapy.
The researchers concluded that the result suggested a prevalence rate for LALD that was lower than that in Europe, but a method for screening patients for the disease could improve diagnosis and treatment.
About Lysosomal Acid Lipase Deficiency
Lysosomal acid lipase deficiency (LALD) is an inborn metabolic disorder which results in insufficient production of lysosomal acid lipase, an enzyme that serves to break down triglycerides and cholesteryl ester. It can result in an accumulation of fatty material in various organs and body systems. The disease is inherited in an autosomal recessive pattern and is the result of a mutation impacting the LIPA gene. Symptoms begin in infancy and include feeding issues, abdominal swelling, vomiting, inability to gain weight, and diarrhea. Other problems include fever, jaundice, anemia, physical wasting, liver dysfunction, itching, greasy stools, and abnormal fat deposits. Early heart disease or stroke is possible, and many adult patients are undiagnosed. The primary treatment for the disease is an enzyme replacement therapy called sebelipase alfa. To learn more about this disease, click here.
