Severe Hypercholesterolemia Mediated by Lipoprotein X in an Immunosuppressed Patient: A Case Report.

Cholestatic liver diseases may be associated with increased plasmatic cholesterol due to an abnormal lipoprotein - lipoprotein X (LpX). Correcting the underlying cause of cholestasis is the critical treatment of LpX-associated hypercholesterolemia without any proven benefit from conventional lipid-lowering agents. In some situations, plasma exchange may apply to prevent associated complications, such as hyperviscosity syndrome. The authors present the case of a 44-year-old man with orbital inflammatory pseudotumor on prednisolone, admitted due to hepatocellular and cholestatic lesion and severe hypercholesterolemia. Laboratory investigation established that hepatitis E virus was responsible for liver injury and showed that LpX mediated the severe hypercholesterolemia. Reduction of the immunosuppressive load contributed to virus clearance. The consequent resolution of cholestasis and cholesterol removal by plasmapheresis allowed lipid profile normalization. The authors report the first case of LpX-associated hypercholesterolemia in a patient with hepatitis E-induced cholestasis and revisit the role of the liver in lipid metabolism.

As doenças hepáticas colestáticas podem associar-se a um aumento do colesterol à custa de uma lipoproteína anómala, a lipoproteína X (LpX). Os agentes hipolipemiantes convencionais não apresentam benefício nesta entidade, pelo que o tratamento da hipercolesterolemia associada de LpX baseia-se na correção da causa subjacente da colestase. A plasmaferese pode ser necessária para evitar complicações, como a síndrome de hiperviscosidade. Os autores apresentam o caso de um homem de 44 anos com antecedentes de pseudotumor inflamatório da órbita sob prednisolona, admitido por lesão hepatocelular e colestática e hipercolesterolemia grave. A investigação laboratorial permitiu estabelecer a hepatite E aguda como responsável da lesão hepática e mostrou que a hipercolesterolemia grave foi mediada pela LpX. A redução da carga imunossupressora facilitou a eliminação do vírus da hepatite E. A consequente resolução da colestase coadjuvada pela remoção de colesterol por plasmaferese, permitiu a normalização mantida do perfil lipídico. Os autores relatam o primeiro caso de hipercolesterolemia associada a LpX em contexto de colestase induzida pelo vírus da hepatite E, e revisitam a importância do fígado no metabolismo dos lípidos.

Primary gastric leiomyosarcoma presenting as a giant polyp.

We present the case of a 35-year-old woman with previous hereditary retinoblastoma treated with radiotherapy, admitted due to severe iron deficiency anemia. Upper endoscopy and endoscopic ultrasound revealed a 5-cm polypoid lesion in the fundus arising from muscularis mucosa. Histological findings favored a sarcoma with muscular differentiation. After exclusion of metastatic disease, the patient underwent surgery and diagnosis of primary gastric leiomyosarcoma was confirmed. We report a case of double rarity of gastric leiomyosarcoma, as she presented with severe anaemia from a polypoid lesion of the gastric fundus.

Intestinal and perianal tuberculosis: an uncommon clinical presentation and challenging diagnosis.

We present the case of a 40-year-old immunocompetent man with complaints of perianal abscess, diarrhea, and weight loss for 3 months. He denied respiratory symptoms. Colonoscopy revealed ulcers and histopathology showed non-necrotizing granulomas and excluded acid-fast bacilli. Initially, the clinical and histological findings favored the diagnosis of Crohn's disease, however, further investigation by performing chest radiography in the context of a pre-immunomodulatory checklist, revealed pulmonary cavitations confirmed on computed tomography scan. Further mycobacteriological studies suggested the diagnosis of active pulmonary tuberculosis. Demonstration of the presence of Mycobacterium tuberculosis in the colon was possible by RT-PCR. Complete resolution of intestinal and perianal symptoms was achieved 2 weeks after treatment with anti-bacillary agents.

Gastroduodenal artery pseudoaneurysm presenting with hyperamylasemia.

We present the case of a 75-year-old male admitted due to severe epigastric pain. His medical history was remarkable for chronic alcohol abuse, diabetes mellitus type 2, arterial hypertension, dyslipidemia. At admission he was hemodynamically stable. The initial workup showed elevated amylase, and the abdominal ultrasound excluded gallstone disease, so the diagnosis of acute pancreatitis was assumed. Despite appropriate fluid therapy, the patient developed hemodynamic instability. No signs of GIB were detected. An urgent laboratory workup revealed a new onset anemia and liver tests, including hyperbilirrubinemia. He underwent an urgent abdominal computed tomography with contrast, which showed a bleeding gastroduodenal artery (pseudoaneurysm and a hematoma adjacent to the second part of the duodenum. The patient underwent coil embolization achieving hemostasis without complications. GAD (pseudo)aneurysm is rare, accounting for 1.5% of all visceral artery aneurysms. Our patient presented with elevated pancreatic and liver enzymes, a more unique and challenging presentation since another more common differential diagnosis should be considered. The aneurysm can cause extrinsic common bile duct and main pancreatic duct pressure, which could explain the raised liver tests. Gastroenterologists should be aware of this rare and life-threatening entity, especially among patients presenting with common findings such as elevated amylase, jaundice, or altered liver tests. Hemodynamic instability is the main clue unmasking this diagnosis.

Henoch-Schönlein purpura masquerading as Crohn's disease flare.

We describe the case of a 69-year-old male with Crohn's disease (CD), treated with infliximab and undergoing intestinal resection. The surgery and postoperative period were unremarkable, with no CD-related symptoms. Two months after surgery and two weeks after the introduction of infliximab, he was admitted due to acute onset diffuse abdominal pain, hematochezia and arthralgia. On physical observation on admission, he showed signs of arthritis of the left knee. Laboratory tests revealed renal failure with nephrotic proteinuria, slightly low complement (C3) and IgA elevation. Remaining autoimmunity and viral panel were negative. Abdominal examination showed duodenum and thickening of the proximal wall of the jejunum. Biopsies excluded active CD. Colon and ileum mucosa were normal. The patient met EULAR criteria for Henoch-Schönlein purpura and was started on prednisolone with response. Although no clear trigger was pointed out, we switched anti-TNF to ustekinumab. We present this case given its endoscopic exuberance, and because of the high index of suspicion to make the diagnosis in adult patients with previous inflammatory bowel disease. The distinction between this vasculitis and CD is of utmost importance, given the therapeutic implications.

Colorectal Cancer Screening: What Is the Population's Opinion.

BACKGROUND: Colorectal cancer (CRC) is the first cause of death by cancer in Portugal and mortality has been increasing in the last 30 years. MATERIALS AND METHODS: During a raising awareness campaign performed by our Gastroenterology Department, in Setúbal, Portugal, an anonymous written questionnaire was developed and presented in order to evaluate the population's knowledge and attitude regarding CRC screening. RESULTS: The following results were reported: 140 persons; mean age 54.6 years; 61.4% women; 22.1% had a family history of colorectal cancer. The main risk factors mentioned by the respondents were family history of CRC, previous history of intestinal polyps, and intestinal infection. Screening was considered useful by all respondents. About 60% of the respondents had been counselled, at least, on one screening technique, mainly by their general practitioner: colonoscopy in 31, fecal occult blood test in 44, and flexible sigmoidoscopy in 9. Most of the respondents had had the appropriate screening test, according to their age and family history. Fourteen of the respondents had not undergone the recommended screening. Their answers showed that this was due to fear of pain/discovering a disease as well as embarrassment. CONCLUSION: Although the majority of the respondents were aware of the importance of CRC screening, results show that there are still several misconceptions about risk factors, fear, and reluctance concerning the screening techniques. Awareness actions are useful to clarify possible questions and inform the population in order to increase compliance with screening.

INTRODUÇÃO: O cancro colorretal (CCR) é a primeira causa de morte por cancro em Portugal, com uma mortalidade que tem aumentado nos últimos 30 anos. MATERIAIS E MÉTODOS: Durante uma acção de sensibilização levada a cabo por profissionais de saúde do Serviço de Gastrenterologia, em Setúbal, Portugal, foi realizado um inquérito escrito, anónimo, no sentido de avaliar os conhecimentos e atitudes da população face ao CCR. RESULTADOS: 140 indivíduos; idade média 54.6 anos; 61.4% mulheres; 22.1% tinham pelo menos 1 familiar com CCR. Os factores de risco para CCR mais referidos foram a presença de pólipos e a história familiar. A infecção intestinal foi considerada como um factor de risco para CCR por 74% dos inquiridos, sendo que o rastreio foi considerado útil por todos. Tinha sido recomendado pelo menos um exame de rastreio a cerca de 60% dos participantes, a maioria por indicação do médico assistente de medicina geral e familiar: colonoscopia total em 31, pesquisa de sangue oculto nas fezes em 44 e rectossigmoidoscopia em 9. Atendendo à idade e história familiar, a maioria efectuou um rastreio apropriado. Catorze pessoas não efectuaram o rastreio aconselhado; os motivos mais apontados foram o medo da dor/descobrir uma doença e vergonha. CONCLUSÃO: Embora a maioria dos inquiridos estivesse alerta para a importância do rastreio do CCR, persistem muitas ideias erradas em relação a factores de risco, receios e reticências quanto à realização dos exames de rastreio. Acções de sensibilização são úteis para clarificar dúvidas e informar a população no sentido de aumentar a adesão ao rastreio.

Seronegative Intestinal Villous Atrophy: A Diagnostic Challenge.

Celiac disease is the most important cause of intestinal villous atrophy. Seronegative intestinal villous atrophy, including those that are nonresponsive to a gluten-free diet, is a diagnostic challenge. In these cases, before establishing the diagnosis of seronegative celiac disease, alternative etiologies of atrophic enteropathy should be considered. Recently, a new clinical entity responsible for seronegative villous atrophy was described-olmesartan-induced sprue-like enteropathy. Herein, we report two uncommon cases of atrophic enteropathy in patients with arterial hypertension under olmesartan, who presented with severe chronic diarrhea and significant involuntary weight loss. Further investigation revealed intestinal villous atrophy and intraepithelial lymphocytosis. Celiac disease and other causes of villous atrophy were ruled out. Drug-induced enteropathy was suspected and clinical improvement and histologic recovery were verified after olmesartan withdrawal. These cases highlight the importance for clinicians to maintain a high index of suspicion for olmesartan as a precipitant of sprue-like enteropathy.

Systemic mastocytosis: A rare cause of non-cirrhotic portal hypertension.

Mastocytosis is a clonal neoplastic disorder of the mast cells (MC) that can be limited to the skin (cutaneous mastocytosis) or involve one or more extracutaneous organs (systemic mastocytosis). The clinical manifestations of mastocytosis are heterogeneous ranging from indolent disease with a long-term survival to a highly aggressive neoplasm with survival of about 6 mo. Although liver involvement in aggressive systemic mastocytosis (ASM) is relatively common, the development of portal hypertension with or without cirrhosis is rare. We report a case of ASM without skin involvement in a 72-year-old caucasian male who presented with non-cirrhotic portal hypertension based on clinical, analytical, imagiological and endoscopic findings. Given the hematological picture, the correct diagnosis was established based on ancillary tests for MC using bone marrow aspirates and biopsy. Extensive involvement of the liver and gastrointestinal tract was histologically documented. The disease progressed rapidly and severe pancytopenia and recurrent upper gastrointestinal bleeding became the dominant problem. This case illustrates the challenge in establishing a diagnosis of ASM especially when the clinical picture is atypical and without skin involvement. Gastroenterologists should consider infiltrative disease, particularly systemic mastocytosis, as a differential diagnosis in a clinical case of portal hypertension of unknown etiology.

Metabolic syndrome and colorectal neoplasms: An ominous association.

AIM: To evaluate the association of metabolic syndrome (MS) and colorectal cancer and adenomas in a Western country, where the incidence of MS is over 27%. METHODS: This was a prospective study between March 2013 and March 2014. MS was diagnosed according to the National Cholesterol Education Program-ATP III. Demographic characteristics, anthropometric measurements, metabolic risk factors, and colonoscopic pathologic findings were assessed in patients with MS (group 1) who underwent routine colonoscopy at our department. This data was compared with consecutive patients without metabolic syndrome (group 2), with no differences regarding sex and age. Patients with incomplete colonoscopy, family history, or past history of colorectal neoplasm were excluded. Informed consent was obtained and the ethics committee approved this study. Statistical analysis was performed using Student's t-test and χ(2) test, with a P value ≤ 0.05 being considered statistically significant. RESULTS: Of 258 patients, 129 had MS; 51% males; mean-age 67.1 years (50-87). Among the MS group, 94% had high blood pressure, 91% had increased waist circumference, 60% had diabetes, 55% had low high-density lipoprotein cholesterol level, 50% had increased triglyceride level, and 54% were obese [body mass index (BMI) 30 kg/m(2)]. 51% presented 4 criteria of MS. MS was associated with increased prevalence of adenomas (43% vs 25%, P = 0.004) and colorectal cancer (13% vs 5%, P = 0.027), compared with patients without MS. MS was also positively associated with multiple (≥ 3) adenomas (35% vs 9%, P = 0.024) and sessile adenomas (69% vs 53%, P = 0.05). No difference existed between location (P = 0.086), grade of dysplasia (P = 0.196), or size (P = 0.841) of adenomas. In addition, no difference was found between BMI (P = 0.078), smoking (P = 0.146), alcohol consumption (P = 0.231), and the presence of adenomas. CONCLUSION: MS is positively associated with adenomas and colorectal cancer. However, there is not enough information in western European countries to justify screening in patients with MS. To our knowledge, no previous study has evaluated this association in Portuguese patients.

Appropriateness of outpatient gastrointestinal endoscopy in a non-academic hospital.

AIM: To assess the appropriate use and the diagnostic yield of upper gastrointestinal endoscopy and colonoscopy in this subgroup of patients. METHODS: In total, 789 consecutive outpatients referred for gastrointestinal (GI) endoscopy [381 for esophagogastroduodenoscopy (EGD) and 408 for colonoscopy] were prospectively enrolled in the study. The American Society for Gastrointestinal Endoscopy (ASGE) guidelines were used to assess the relationship between appropriateness and the presence of relevant endoscopic findings. RESULTS: The overall inappropriate rate was 13.3%. The indications for EGD and colonoscopy were, respectively, appropriate in 82.7% and 82.6% of the exams, uncertain in 5.8% and 2.4% and inappropriate in 11.5% and 15%. The diagnostic yield was significant higher for EGDs and colonoscopies judged appropriate and uncertain when compared with those considered inappropriate (EGD: 36.6% vs 36.4% vs 11.4%, P = 0.004; Colonoscopy: 24.3% vs 20.0% vs 3.3%, P = 0.001). Of the 25 malignant lesions detected, all but one was detected in exams judged appropriate or uncertain. CONCLUSION: This study shows a good adherence to ASGE guidelines by the referring physicians and a significant increase of the diagnostic yield in appropriate examinations, namely in detecting neoplastic lesions. It underscores the importance that the appropriateness of the indication assumes in assuring high-quality GI endoscopic procedures.

A comparative study of two methods of colonic cleansing before colonoscopy.

BACKGROUND/AIMS: good colonic preparation is essential to perform a complete and safe colonoscopy. The preparation used in the Endoscopy Unit was adopted after testing it against the classic 4-liter polyethylene glicol (PEG) preparation (Klean-Prep). Recently a new 3-liter PEG preparation was commercialised in Portugal, Endo-Falk, which appeared to be simpler and effective. The present study compared the preparation we usually use (a combination of 4 tablets of bisacodyl with 2-liter PEG and enemas) with this new preparation. METHODOLOGY: we enrolled 305 patients in 2 groups. Group 1 was given our usual preparation, as described above and group 2 was given the new 3-liter preparation, Endo-Falk. All patients were ambulatory, and only patients undergoing total colonoscopies were included. Patients with benign or malignant stenosis and patients who had previously undergone colorectal resection were excluded. Preparation was graded as good when there were no stools and little liquid in the colon, fair when there were stools or liquid that could be aspirated and did not obscure the mucosa and bad when stools or excess liquid prevented an adequate view of the surface or precluded polipectomy. RESULTS: The present study included 164 male and 141 female patients, with a mean age of 61.3 years (no difference between the demographic data). In group 1 the preparation was good in 57.5%, fair in 28.5% and bad in 14% of patients and in group 2 the preparation was good in 33.1%, fair in 48.9% and bad in 18% (p < 0.001). Colonoscopies were complete in 89.9% of all patients. CONCLUSIONS: The usual preparation was better than the new 3-liter PEG solution.