15-Year progression to liver cancer in the lack of treatment for lysosomal acid lipase deficiency: A case report.
Medicine (Baltimore)
; 101(35): e30315, 2022 Sep 02.
Article
in English
| MEDLINE | ID: covidwho-2008669
ABSTRACT
RATIONALE Lysosomal acid lipase deficiency (LAL-D) is a poorly diagnosed genetic disorder characterized by the accumulation of cholesteryl esters and triglycerides in many tissues, leading to dyslipidemia and cardiovascular complications. In the liver, deposits are found within hepatocytes and Kupffer cells, generating microvesicular steatosis, progressive fibrosis, and cirrhosis. Sebelipase alfa is the target therapy which can improve laboratory changes and reduce the progression of liver damage, but this is not yet widely available. PATIENT CONCERNS We are reporting a 15-year follow-up of a Brazilian man who was diagnosed with cirrhosis at age 43 and with LAL-D at age 53, but he has never been treated with sebelipase alfa for economic reasons. During the coronavirus disease 2019 (COVID-19) pandemic, he lost follow-up and missed three 6-month ultrasound exams for liver cancer screening. DIAGNOSIS At age 58, a remarkable deterioration in liver function was observed and he was diagnosed with hepatocellular carcinoma (HCC) outside the Milan Criteria (two nodules measuring 48mm and 25mm). Three other individuals with LAL-D and progression to liver cancer have been reported so far and none of them underwent enzyme replacement therapy an 11-year-old girl with HCC, a 51-year-old male with cholangiocarcinoma, and a 21-year-old male with hepatocellular-cholangiocarcinoma. The latter had the same mutation in the gene LIPA as our patient, but a relationship between this variant and malignancies has not yet been established. LESSONS We emphasize how important is to treat LAL-D patients after diagnosis in order to avoid worsening liver function and progression to neoplasms. Untreated individuals should be considered at a higher risk but the most appropriate liver cancer screening program for this subgroup is still unknown.
Full text:
Available
Collection:
International databases
Database:
MEDLINE
Main subject:
Cholangiocarcinoma
/
Carcinoma, Hepatocellular
/
COVID-19
/
Liver Neoplasms
Type of study:
Case report
/
Cohort study
/
Diagnostic study
/
Prognostic study
Topics:
Variants
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
/
Young adult
Language:
English
Journal:
Medicine (Baltimore)
Year:
2022
Document Type:
Article
Affiliation country:
Md.0000000000030315
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