Combined Hepatocellular–Cholangiocarcinoma in a Patient With Cirrhosis Due to Cholesteryl Ester Storage Disease

Narro, Graciela Elia Castro; Domínguez, Armando Gamboa; Sánchez, Alejandra Consuelo; Martínez, Abel Salazar; Hevia, Jose Agramonte; Cebolla, Jorge J.; Mendoza, Miguel Enrique Cuellar; Hernández, Héctor Adrián Díaz

doi:10.1002/hep.30331

Cited by 4 publications

(2 citation statements)

References 6 publications

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“…Although the cholesteryl esters and triglycerides are deposited in hepatocytes and Kupffer cells, distinct progression to malignancies has been reported: a girl with HCC (11y), [13] a man with cholangiocarcinoma (51y), [14,15] and a man with hepatocellular-cholangiocarcinoma (21y). [16] The latter had the same mutation in the gene LIPA as our patient (allele c.386A > G homozygous p.H129R). We do not know whether this is a coincidence or this mutation is associated with a higher risk of liver cancer.…”

Section: Discussionsupporting

confidence: 57%

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15-Year progression to liver cancer in the lack of treatment for lysosomal acid lipase deficiency: A case report

et al. 2022

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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.

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Section: Discussionsupporting

confidence: 57%

“…11y F HCC, unreported mutation [13] 51y M Cholangiocarcinoma,heterozygote for G934A and DeltaC(673-5) [14,15] 21y M Hepatocellular-cholangiocarcinoma, c.386A > G homozigous p.H129R [16] 58y M Radiological features of HCC, c.386A > G homozigous p.H129R…”

Section: Tablementioning

confidence: 99%

15-Year progression to liver cancer in the lack of treatment for lysosomal acid lipase deficiency: A case report

et al. 2022

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Tumors of the Liver in Children

Finegold¹,

Hadžić²,

Cho³

2021

Liver Disease in Children

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<p>Lysosomal acid lipase deficiency – early diagnosis is the key</p>

Strebinger¹,

Müller²,

Feldman³

et al. 2019

HMER

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Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease that may present from infancy to late adulthood depending on residual enzyme activity. While the severe form manifests as a rapidly progressive disease with near universal mortality within the first 6 months of life, milder forms frequently go undiagnosed for prolonged periods and typically present with progressive fatty liver disease, enlarged spleen, atherogenic dyslipidemia and premature atherosclerosis. The adult variant of LAL-D is typically diagnosed late or even overlooked due to the unspecific nature of the presenting symptoms, which are similar to common changes observed in the context of the metabolic syndrome. This review is aimed at delineating clinically useful scenarios in which pediatric or adult medicine clinicians should be aware of LAL-D as a differential diagnosis for selected patients. This is particularly relevant as a potentially life-saving enzyme replacement therapy has become available and the diagnosis can easily be ruled out or confirmed using a dried blood spot test.

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Combined Hepatocellular–Cholangiocarcinoma in a Patient With Cirrhosis Due to Cholesteryl Ester Storage Disease

Cited by 4 publications

References 6 publications

15-Year progression to liver cancer in the lack of treatment for lysosomal acid lipase deficiency: A case report

15-Year progression to liver cancer in the lack of treatment for lysosomal acid lipase deficiency: A case report

Tumors of the Liver in Children

<p>Lysosomal acid lipase deficiency – early diagnosis is the key</p>

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