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Lysosomal acid lipase deficiency - early diagnosis is the key

Georg Strebinger1, Elena Müller1, Alexandra Feldman1

  • 1First Department of Medicine, Paracelsus Medical University, Salzburg, Austria.

Hepatic Medicine : Evidence and Research
|June 20, 2019
PubMed

Insights

Lysosomal acid lipase deficiency (LAL-D) is a rare genetic disorder. Early diagnosis is crucial for effective enzyme replacement therapy, especially in adults presenting with metabolic syndrome-like symptoms.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics
  • Internal Medicine

Background:

  • Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare genetic disorder affecting lysosomal function.
  • Disease presentation varies significantly, from severe infantile forms to milder adult variants.
  • Milder LAL-D often goes undiagnosed due to non-specific symptoms mimicking metabolic syndrome.

Purpose of the Study:

  • To highlight key clinical scenarios for recognizing LAL-D in pediatric and adult patients.
  • To emphasize the importance of considering LAL-D in differential diagnoses.
  • To inform clinicians about newly available enzyme replacement therapy and diagnostic tests.

Main Methods:

  • Literature review focusing on clinical presentations of LAL-D.
  • Analysis of diagnostic challenges and therapeutic advancements.
  • Identification of specific patient profiles warranting LAL-D investigation.

Main Results:

  • LAL-D can present with progressive fatty liver, splenomegaly, dyslipidemia, and premature atherosclerosis.
  • Adult LAL-D is frequently misdiagnosed or overlooked due to overlapping symptoms with common metabolic conditions.
  • A dried blood spot test offers a simple method for LAL-D diagnosis or exclusion.

Conclusions:

  • Increased clinical awareness of LAL-D is essential for timely diagnosis.
  • Prompt diagnosis facilitates access to life-saving enzyme replacement therapy.
  • Utilizing the dried blood spot test can significantly improve LAL-D detection rates.

Keywords:
atherogenic dyslipidemialiver cirrhosislow HDLlysosomal acid lipasemicrovesicular steatosis

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