Delaying treatment in patients with lysosomal acid lipase deficiency (LAL-D) may put them at a higher risk of developing liver cancer, according to a study recently published in Medicine.

“It is possible that the use of sebelipase alfa can reduce the incidence of neoplasms in affected patients, therefore untreated individuals should be considered at a higher risk, but the most appropriate strategy for cancer surveillance is not yet established,” the authors wrote.

This case report described a 43-year-old man from Brazil who, at a routine checkup, presented with asymptomatic splenomegaly and thrombocytopenia. Although he received a diagnosis of liver cirrhosis Child-Pugh A, the etiology of his condition was not certain until 10 years later. Histologic analysis of the liver revealed microvesicular steatosis and cholesteryl ester deposits in Kupffer cells and hepatocytes, making his healthcare providers suspect LAL-D.

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Subsequent investigations included a blood spot test, which reported undetectable lysosomal acid lipase (LAL) activity, and genetic testing, which showcased homozygous mutations in the LIPA gene. He was diagnosed with LAL-D at 53 years of age.

The patient initiated a therapeutic scheme consisting of atorvastatin, hydrochlorothiazide, carvedilol, and vitamin D3. Enzyme replacement therapy was indicated; however, due to unavailability in the public healthcare system of Brazil and the patient’s limited economic resources, he could not receive it.

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The patient missed subsequent follow-ups until he reached 58 years of age. Although he continued to deny symptoms, laboratory tests exhibited declining liver function and abdominal ultrasound revealed hepatic nodules.

Due to the latter findings, the patient underwent computed tomography, which revealed 2 lesions; one in segment V measured 48 mm and showed arterial enhancement after venous washout, while the other in segment VII measured 25 mm and showed arterial enhancement without washout.

Healthcare providers diagnosed the patient with hepatocellular carcinoma and performed transcatheter arterial chemoembolization while including him on the transplant waitlist.

There are 3 other reported cases of hepatic neoplasms in patients with LAL-D, one of which carried the same genotype as the patient in this publication. These findings suggest a potential link between these 2 entities that should be explored further to craft proper preventive measures.

“Surveillance for cholangiocarcinoma remains a challenge as there is no consensus among experts,” the study authors concluded.


Cunha-Silva M, de França EVC, Veiga CT, et al. 15-year progression to liver cancer in the lack of treatment for lysosomal acid lipase deficiency: a case report. Medicine (Baltimore). 2022;101(35):e30315. doi:10.1097/md.0000000000030315