Lysosomal acid lipase deficiency is a poorly diagnosed genetic disorder, leading to accumulation of cholesterol esters and triglycerides in the liver, with progression to chronic liver disease, dyslipidemia, and cardiovascular complications. Lack of awareness on diagnosis of this condition may hamper specific treatment, which consists on enzymatic replacement. It may prevent the progression of liver disease and its complications. We describe the case of a 53-year-old Brazilian man who was referred to our center due to the diagnosis of liver cirrhosis of unknown etiology. He was asymptomatic and had normal body mass index. He had dyslipidemia, and family history of myocardial infarction and stroke. Abdominal imaging tests showed liver cirrhosis features and the presence of intrahepatic calcifications. Initial investigation of the etiology of the liver disease was not elucidated, but liver biopsy showed microgoticular steatosis and cholesterol esters deposits in Kuppfer cells. The dosage of serum lysosomal acid lipase was undetectable and we found the presence of a rare homozygous mutation in the gene associated with the lysosomal acid lipase deficiency, (allele c.386A > G homozygous p.H129R).

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SUMMARY INTRODUCTION Direct-acting antivirals are new drugs for chronic hepatitis C treatment. They are usually safe and well tolerated, but can sometimes cause serious adverse effects and there is no consensus on how to treat or prevent them. We described a case of hand-foot syndrome due to hepatitis C virus interferon-free therapy. METHODS We report the case of a 49-year-old man with compensated liver cirrhosis due to chronic hepatitis C genotype 1, treatment-naïve, who started viral treatment with sofosbuvir, simeprevir and ribavirin for 12 weeks. RESULTS At the sixth week of treatment he had anemia, requiring a lower dose of ribavirin. At the tenth week, he had erythematous, pruritic, scaly and flaky lesions on hands and feet, which showed a partial response to oral antihistamines and topical corticosteroids. It was not necessary to discontinue antiviral treatment, but in the first week after the end of treatment, there was worsening of injuries, including signs of secondary infection, that required hospitalization, antibiotics and oral corticosteroid, with progressive improvement. Biopsy of the lesions was consistent with pharmacodermia. The patient had sustained a virological response, despite the side effect. He had a history of pharmacodermia one year ago attributed to the use of topiramate, responsive to oral corticosteroid. CONCLUSION Interferon-free therapies can rarely lead to severe adverse reactions, such as skin lesions. Patients receiving ribavirin combinations and those who had a history of pharmacodermia or skin disease may be more susceptible. There is no consensus on how to prevent skin reactions in these patients.

BACKGROUND: Colonoscopy is an important exam for diagnosis and follow-up of Crohn’s disease (CD). It has a relevant role in the management of patients after ileocaecal resection (IR), evaluating ileocolonic endoscopic recurrence (ER), performing biopsies and endoscopic dilations. This study describes the colonoscopies performed in patients previously submitted to IR for CD complications, evaluating its impact in the management and evolution of the disease. METHODS: Between January 2014 and May 2018, a total of 116 colonoscopies were performed in 62 patients with previous IR for CD. This study describes demographic data, personal and family history, use of medications, Harvey-Bradshaw index (HBI), endoscopic findings, post-colonoscopy alterations of medical treatment and need of new surgery. For endoscopic classification, Rutgeerts index for severity of post-operative CD was used, and ER was defined as scores 3i2. For statistical analysis, software SPSS 20.0 was used. It was considered statiscally significant values of p£0.05. RESULTS: Among all patients, 38.7% were male gender, which was a risk factor for ER (P < 0.05). Mean time of CD was 156 months (12–385). Prevalence of smoking was 17.7%, which also was a risk factor for ER (P < 0.05). Family history for CD was positive in 9 cases (14.5%). HBI showed low sensibility for predicting ER. Forty-five patients refered regular use of medication prescribed, while eight patients were in irregular use. Nine patients were without medication. Although there was no statistical significance (P = 0.15), the use of combotherapy was less associated with ER, when compared to other therapies. Regarding ER, 36 cases were i0; 18 cases i1, 38 cases i2; 5 cases i3; and finally, 16 cases i4. On follow-up, patients with ER more frequently had drug optimization or change of medication (P < 0.05). None of the patients classified as i0, i1, i2 e i3 needed new surgery on follow-up. Two cases classified as i4 had indication of new surgery. Ileocolonic stenosis was a risk factor for ER (P < 0.05): in a total of 23 cases, 16 were active disease with ulcerated stenosis. One balloon dilation was done in a patient with non-ulcerated ileocolonic stenosis. There were no cases of bleeding and perforation. CONCLUSION(S): Postoperative endoscopic follow-up after ileocaecal resection should be routinely performed. In our study, approximately 46% of the patients were in endoscopic remission. In contrast with previous reports, the majority of our i3 and i4 cases were managed clinically, with a low rate of new surgery (around 5%) Male sex, smoking and stenosis were risk factors for ER.

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