It does not appear that a significant number of patients seen in lipid, diabetes, or liver clinics have undiagnosed lysosomal acid lipase deficiency (LAL-D), according to a new study in review to be published in the Orphanet Journal of Rare Diseases.

However, the authors of the study concluded that LAL-D should still be tested for in atypical cases since diagnostic testing using a dried blood sample is easy and enzyme replacement therapy is available should a diagnosis of LAL-D be reached. 

Because LAL-D is such a rare disease, it may be underdiagnosed or misdiagnosed. Here, a team of researchers led by Marianne Barr, PhD, from Queen Elizabeth University Hospital in Glasgow, Scotland screened 1730 eligible patients for LAL-D in 8 centers in the UK.

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The researchers found that none of the patients tested positive for LAL-D. In the 27 patients who consented to genetic testing, none had any abnormalities. The researchers also screened 100 patients in the liver cohort for LAL-D, none of whom were positive for the disease.

“Using the eligibility criteria we adopted, the detection rate of LAL-D was meager,” the researchers wrote. “In our cohorts, we did not identify any patient with undiagnosed LAL-D in hospital Lipid, Diabetes or Liver clinics.”

LAL-D is a very rare disease characterized by abnormal lysosomal storage of cholesteryl esters and triglycerides throughout the body. This leads to systemic dyslipidemia, progressive atherosclerosis, and splenic and gastrointestinal dysfunction.

The disease is caused by a mutation in the LIPA gene, which encodes the lysosomal acid lipase enzyme. More than 120 types of mutations have been identified that can cause LAL-D.


Kwok S, Soran H, Barr M. Detection of lysosomal acid lipase deficiency in tertiary referral centres. Res Sq. doi:10.21203/