Differential Diagnosis of a Patient With Lysosomal Acid Lipase Deficiency

A Case Report

Ashwin S. Akki, MD, PhD; Sun M. Chung, MD; Bryan J. Rudolph, MD, MPH; Michelle R. Ewart, MD

Lab Med. 2018;49(4):377-384.

Conclusion

LAL-D is a rare but progressive metabolic disease caused by reduced lysosomal acid lipase enzyme activity levels. Cholesterol esters and triglycerides eventually accumulate within intracellular lysosomes, resulting in the characteristic biochemical findings of elevated serum ALT, LDL-C, and low HDL-C levels. Clinically, patients may present with neonatal liver failure or can be asymptomatic and develop progressive liver disease later in life, depending on the degree of enzyme deficiency. Either way, LAL-D can be difficult to recognize clinically, and surgical pathologists can be instrumental in diagnosing cases if any of the classic histopathologic findings—microvesicular steatosis, mixed steatosis, or clusters of foamy histiocytes in the lobules and/or portal areas—are present.

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Acknowledgments
Editorial support was provided by Peloton Advantage, LLC and was funded by Alexion Pharmaceuticals, Inc.

Personal and Professional Conflicts of Interest
Coauthor Rudolph receives honoraria from the speaker bureau of Alexion Pharmaceuticals, Inc.

Abbreviations
NAFLD, nonalcoholic fatty liver disease; MCAD, medium-chain acyl coenzyme A dehydrogenase; LCAD, long-chain acyl coenzyme A dehydrogenase; LAL-D, lysosomal acid lipase deficiency; LDL-C, low-density lipoprotein cholesterol; ALP, alkaline phosphatase; BMI, body mass index; ALT, alanine aminotransferase; AST, aspartate aminotransferase; PAS-D, periodic acid–Schiff diastase; PAS, periodic acid–Schiff; ASM, acid sphingomyelinase; CESD, cholesterol ester storage disease; LAL, lysosomal acid lipase deficiency; LDL, low-density lipoprotein; E8SJM, exon 8 splice junction mutation; VLDL, very-low-density lipoprotein; LAMP-2, limbic system associated membrane protein 2; LIMP-2, lysosomal integral membrane protein 2; GGT, gamma glutamyl transferase; NA, nonapplicable; SI, Système Internationale

Cite this: Differential Diagnosis of a Patient With Lysosomal Acid Lipase Deficiency - Medscape - Nov 01, 2018.

Table 1. Laboratory Measurements Over Time for Our Patient, a 12-Year-Old Boy of Mexican origin
Anatye	Year
Anatye	2010	2011	2012	2013	2014	2015	2016
ALT, IU/L (normal range: 0–26)	97	117	83	161	198	177	153
AST, IU/L (normal range: 10–50)	65	87	62	101	119	106	87
ALP, IU/L (range: 40–260)	318	385	351	398	416	384	340
GGT, IU/L (normal range: 8–52)	NA	18	NA	26	49	62	61
Total cholesterol, mg/dL (range: 105–220)^a	241	240	201	204	NA	221	232
Triglycerides, mg/dL (normal range: 35–125)^b	93	74	84	71	NA	112	167
HDL-C, mg/dL (range: 30–60)^a	40	47	44	45	NA	49	43
LDL-C, mg/dL (normal range: 0–130)^a	182	178	140	145	NA	150	156

ALT, alanine aminotransferase; AST, aspartate aminotransferase; ALP, alkaline phosphatase; GGT, gamma glutamyl transferase; NA, value was not recorded; HDL-C, high-density lipoprotein cholesterol; LDL-C, low-density lipoprotein cholesterol.
^aTo convert cholesterol values (mg/dL) to Système Internationale (SI) units (mmol/L), multiply by 0.0259.
^bTo convert triglycerides values (mg/dL) to SI units (mmol/L), multiply by 0.0113.

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Differential Diagnosis of a Patient With Lysosomal Acid Lipase Deficiency

A Case Report

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