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

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.

Microwave coagulation versus sclerotherapy after band ligation to prevent recurrence of high risk of bleeding esophageal varices in Child-Pugh's A and B patients.

BACKGROUND: The combination of endoscopic band ligation (EBL) with either endoscopic injection sclerotherapy (EIS) or thermal therapy has been shown to reduce recurrence of esophageal varices compared to EBL alone. The aim of this prospective trial was twofold: 1) to evaluate the safety and efficacy of EBL used in association with microwave coagulation (MC), a thermal endoscopic therapy method, for treating esophageal varices and preventing recurrence; and 2) to compare these results to the joint application of EBL and EIS. METHODS: Seventy cirrhotic patients with bleeding esophageal varices were treated with EBL until only thin vessels remained. Thirty-six randomly selected patients received EIS (group A) and 34 received MC (group B) until complete eradication had been achieved. Endoscopic follow-up was performed to detect recurrence. The effectiveness of the treatment was measured using variceal recurrence, rebleeding, intervention complications, and recurrence factors. RESULTS: During follow-up evaluations averaging 34.9 +/- 11.4 months, no significant differences were found between groups A and B in variceal recurrence (27.7 vs. 17.6%, P = 0.31) or rebleeding (8.3 vs. 0%, P = 0.23). Complications were rare, with no difference detected between groups. The presence of gastric varices influenced recurrence with an odds ratio of 3.9 (95% CI 1.14-13.1, P = 0.029). CONCLUSIONS: Application of MC to esophageal varices after band ligation is safe. The post-MC recurrence rate may be comparable to that observed following the combined treatment of EBL and EIS. The presence of gastric varices increases the risk of esophageal variceal recurrence.

Ulcera péptica / peptic ulcer

A úlcera péptica é uma doença muito freqüente em nos- so meio. É causada na maioria das vezes pela bactéria Helícobacter pylorí ou pelo uso de antiinfiamatórios não, esteroídais. Não há quadro clínico característico e muitos doentes podem ter sintomatología pobre. A dor epigástrica é o sintoma mais comum e pode ter relação com a alimentação. O diagnóstico das úlceras gastroduodenais é feito através de endoscopia digestiva alta, que permite ainda verificar a exístêncía ou não da infecção pelo H.pylori. A erradicação da bactéria é o tratamento de escolha nos portadores do microrganismo. A utilização de medicamentos redutores de se- creção ácida gástrica é capaz de cicatrizaras úlceras da grande maioria dos pacientes, independente da etiologia. Os mais eficazes são os inibidores da bomba de prótons. Eles podem ser usados profílaticamente nos usuários crônicos de antiin- flamatórios que tenham risco aumentado de lesões, como nos idosos, nos que utilizam corticosteróides ou anticoagulantes e nos pacientes com doenças sistêmicas graves.