Colelitíase sintomática como apresentação de colangite esclerosante primária na infância - série de casos e revisão de literatura / Symptomatic cholelithiasis as the presentation of pediatric primary sclerosing cholangitis - case series and literature review

ABSTRACT BACKGROUND: Primary sclerosing cholangitis (PSC) is a rare hepatobiliary disorder, whose etiology remains not fully elucidated. Given how rare PSC is in childhood, until the recent publication of a multicenter international collaboration, even data on its characteristics and natural history were scarce. Symptomatic cholelithiasis has not been previously reported as the presentation of PSC. OBJECTIVE: The aim of this study was the diagnosis of PSC following the initial unusual presentation with symptomatic cholelithiasis, that followed an atypical clinical course that could not be explained by cholelithiasis alone. A literature review was also conducted. METHODS: We conducted a retrospective chart review of three patients, who were diagnosed and/or followed at the Clinics Hospital, University of Campinas - Sao Paulo/ Brazil, between 2014 and 2020. Data analyzed included gender, age of presentation, past medical history, imaging findings, laboratory results, endoscopic evaluation, response to medical therapy and follow-up. RESULTS: Age at time of presentation with cholelithiasis varied from 10 to 12 years. In two of the cases reported, a more subacute onset of symptoms preceded the episode of cholelithiasis. Two patients were managed with cholecystectomy, not followed by any surgical complications, one patient was managed conservatively. Percutaneous liver biopsy was performed in all three cases, showing histological findings compatible with PSC. Associated inflammatory bowel disease (IBD) was not seen in any of the patients. The patients have been followed for a mean time of 3.4 years. CONCLUSION: PSC and cholelithiasis are both rare in the pediatric population. This study reports on symptomatic cholelithiasis as a presentation of PSC and raises the importance of suspecting an underlying hepatobiliary disorder in children with cholelithiasis without any known predisposing factors and/or that follow an atypical clinical course for cholelithiasis alone.

RESUMO CONTEXTO: A colangite esclerosante primária (CEP) é uma doença hepatobiliar rara, cuja etiologia ainda não está totalmente elucidada. Dada a raridade do CEP na infância, até a recente publicação de uma colaboração multicêntrica internacional, mesmo dados sobre suas características e história natural eram escassos. A colelitíase sintomática não foi relatada anteriormente como a apresentação inicial de CEP na infância. OBJETIVO: O objetivo deste estudo foi o diagnóstico de CEP após a apresentação inicial incomum com colelitíase sintomática, que seguiu um curso clínico atípico que não poderia ser explicado apenas pela colelitíase. Também foi realizada uma revisão da literatura. MÉTODOS: Foi realizada uma revisão retrospectiva dos prontuários de três pacientes, que foram diagnosticados e/ou acompanhados no Hospital das Clínicas da Universidade Estadual de Campinas - São Paulo / Brasil, entre 2014 e 2020. Os dados analisados incluíram sexo, idade de apresentação, história médica pregressa, achados de imagem, resultados laboratoriais, avaliação endoscópica, resposta à terapia médica e acompanhamento. RESULTADOS: A idade no momento da apresentação da colelitíase variou de 10 a 12 anos. Em dois dos casos relatados, um início mais subagudo dos sintomas precedeu o episódio de colelitíase. Dois pacientes foram tratados com colecistectomia, não seguida de qualquer complicação cirúrgica, e um paciente foi tratado de forma conservadora. Biópsia hepática percutânea foi realizada em todos os três casos, mostrando achados histológicos compatíveis com CEP. Doença inflamatória intestinal associada não foi observada em nenhum dos pacientes. Os pacientes foram acompanhados por um tempo médio de 3,4 anos. CONCLUSÃO: CEP e colelitíase são raras na população pediátrica. Este estudo relata a colelitíase sintomática como uma apresentação de CEP e levanta a importância da suspeita de doença hepatobiliar subjacente em crianças com colelitíase sem quaisquer fatores predisponentes conhecidos e/ou que seguem um curso clínico atípico.

Recent Advances in Understanding Colorectal Cancer and Dysplasia Related to Ulcerative Colitis / 대한소화기학회지

Ulcerative colitis is an idiopathic chronic inflammatory bowel disease and its incidence in Korea has rapidly increased over the past two decades. Since ulcerative colitis is associated with increased risk for colorectal cancer, annual or biannual colonoscopy with four quadrant random biopsies at every 10 cm segments has been recommended for surveillance of colitic cancer in patients with long standing left-sided or extensive colitis. Recent epidemiologic data and meta-analysis suggest that the increment of colorectal cancer risk in ulcerative colitis was not larger than that of previous studies. Moreover, in addition to the extent and duration of colitis, other risk factors such as family history of colorectal cancer, primary sclerosing cholangitis, stricture, pseudopolyps, and histologic severity of inflammation have been recognized. As a result, updated guidelines provide surveillance strategies adjusted to the individual patient's risk for colitic cancer. Regarding surveillance method, target biopsy under panchromoendoscopy is preferentially recommended rather than random biopsy.

Enfermedad inflamatoria intestinal y trasplante de órgano sólido: ¿Qué factores hay que considerar en el manejo? Revisión de la literatura a partir de un caso clínico / Inflammatory bowel disease and solid organ transplant. What factors must be considered for management?: case report and review of the literature

Inflammatory bowel disease (IBD), is a chronic condition, nevertheless its association with solid organ transplantation (SOT) is rare. Its presence stresses decisions on best options dealing with IBD management, immunosuppressive therapy and colorectal cancer (CRC) risks in this group of patients. Literature focused on this topic is scarce. Most of the literature corresponds to retrospective or case series of IBD patients submitted to hepatic orthotropic transplant, due to primary sclerosing cholangitis. The aim of this review is, from an individual clinical case, to tackle the different issues that could be of interest in patients requiring SOT, with or without previous IBD. The interest is focused on IBD evolution, de novo- active IBD and CRC risk. In conclusion, the most important point is that the need to perform a proctocolectomy is more related to the IBD severity than to the transplant itself. The recommendation is that these patients should be managed by a multidisciplinary team on a case by case analysis.

Aunque la enfermedad inflamatoria intestinal (EII) es una condición crónica, la asociación de pacientes con EII y trasplante de órgano sólido (TOS) ocurre de manera muy infrecuente. Sin embargo, su presencia sin duda estresa las decisiones sobre cuáles son las mejores opciones en el manejo de la EII, la terapia inmunosupresora y el riesgo de cáncer colorectal (CCR) en este grupo de pacientes. Hasta la fecha, existe escasa literatura sobre este tema y la mayoría se basa en series retrospectivas y casos clínicos de pacientes con EII que han sufrido un trasplante hepático por colangitis esclerosante primaria. El objetivo de esta revisión es mencionar a partir de un caso clínico, los diferentes aspectos relacionados con pacientes que requieren un TOS con o sin EII previa, destacando la evolución de la EII, el desarrollo de una EII-de novo y el riesgo de CCR. Sin duda, el punto más importante es que la decisión de realizar una colectomía está determinada por la gravedad de la EII y no por el TOS en sí. Es recomendable que estos pacientes sean abordados por un equipo multidisciplinario experto, y analizados caso a caso.

A Case of IgG4 Associated Sclerosing Cholangitis without Clinical Manifestations of Autoimmune Pancreatitis / 대한소화기학회지

IgG4-related systemic diseases are characterized by a diffuse or mass forming inflammatory reaction rich in lymphocytes and IgG4-positive plasma cells (lymphoplasmacytic infiltration), fibrosclerosis of variable organs and obliterative phlebitis. They usually involve various organs including the pancreas, bile duct, gallbladder, salivary gland, retroperitoneum, kidney, lung, and prostate. However, most of them are accompanied by autoimmune pancreatitis, and good response to steroid treatment is one of the hallmarks of this disease. We report a case of an 67-year-old man with IgG4 associated sclerosing cholangitis, who was diagnosed by endoscopic retrograde cholangiopancreatography and successfully treated with steroid therapy.

Doença de Crohn, colangite esclerosante primária e síndrome do anticorpo antifosfolipídeo: associação incomum ou mera casualidade? / Crohn's disease, primary sclerosing cholangitis and antiphospholipid antibody syndrome: unusual association or coincidence

A doença inflamatória intestinal (DII) associa-se frequentemente a manifestações extraintestinais e a outros distúrbios autoimunes. A colangite esclerosante primária (CEP) é a principal manifestação extraintestinal hepatobiliar da DII (1). Embora mais frequente na retocolite ulcerativa (RCU), ocorrendo em 2% a 7% dos casos em algumas séries, sua frequência na doença de Crohn (DC) é estimada entre 0,7% e 3,4% (2, 6). Nota-se um risco aumentado de tromboembolismo arterial e venoso em ambas as formas de doença inflamatória intestinal, sendo esta a mais importante complicação vascular da DII (3). No entanto, a associação da síndrome do anticorpo antifosfolipídeo (SAAF) com a doença de Crohn tem sido relatada na literatura apenas em casos clínicos isolados.

Novedades en enfermedades colestásicas / Latest advances in cholestatic diseases

Cholestatic liver diseases arise from impaired hepatobiliary production and excretion of bile. They have some common clinical manifestations and pathogenic features, but at the same time differences that require a special approach. Intrahepatic cholestasis of pregnancy and drug induced liver cholestasis are the most common reversible intrahepatic cholestasis. Primary biliary cirrhosis and primary sclerosing cholangitis are chronic cholestatic diseases. This review will be focused on these two types, in particular their clinical and therapeutic management and complications. While in recent years there has not been much change in the basic clinical approach of these diseases, every day we receive more information from both the basic and clinical science studies, which has enabled to develop new therapeutic lines and reject others that have not confirmed effectiveness.

Las enfermedades colestásicas se caracterizan por la disminución de la formación o excreción del flujo de bilis. Ellas tienen ciertas manifestaciones clínicas y mecanismos patogénicos comunes, pero a su vez diferencias que requieren un enfrentamiento no siempre similar. La colestasia intrahepática del embarazo(CIE) y la colestasia secundaria a fármacos son las más frecuentes dentro de las colestasias intrahepáticas reversibles. La cirrosis biliar primaria (CBP) y la colangitis esclerosante primaria (CEP), son las enfermedades colestásicas crónicas en que centramos esta revisión, en particular en los aspectos clínicos y de manejo terapéutico tanto de éstas, como de sus complicaciones. Si bien en los últimos años no ha habido un cambio significativo en el manejo fundamental de estas enfermedades, cada vez tenemos más información tanto en el área de ciencias básicas como en aspectos clínicos, lo que ha permitido ir desarrollando nuevas líneas terapéuticas y descartando otras que no han confirmado efectividad.

Colitis ulcerativa y colangitis esclerosante asociadas a elastosis perforante: presentación de un caso / Ulcerative colitis and sclerosing cholangitis associated with elastosis perforans: a case review

La eliminación transepidérmica es un mecanismo mediante el cual material extracelular o fibras alteradas de la dermis se eliminan a través de la epidermis. La elastosis perforante es un padecimiento raro caracterizado por eliminación transepidérmica de fibras elásticas alteradas. Clínicamente se manifiesta como pápulas queratósicas del color de la piel, que pueden confluir formando placas de aspecto arciforme o serpiginoso. Predomina en pacientes masculinos y menores de 30 años. Se presenta, hasta nuestro conocimiento, el primer caso de un paciente masculino con colitis ulcerativa crónica inespecífica y colangitis esclerosante asociadas a elastosis perforante.

Transepidermal elimination is a mechanism by which altered dermal extracellular material is discharged through the epidermis. Perforating elastosis is a rare disease characterized by the transepidermal elimination of abnormal elastic fibers. Clinically it manifests as skin-colored keratotic papules that may coalesce and form arcuate or serpiginous plaques. It affects mostly males, predominantly younger than 30-years-old. We present a case of a male patient with inflammatory bowel disease and sclerosing cholangitis associated with perforating elastosis. To our knowledge, this is the first description of inflammatory bowel disease associated with perforating elastosis.

Prevalence of primary sclerosing cholangitis in patients with ulcerative colitis and the risk of developing malignancies: a large prospective study / Prevalencia de colangitis esclerosante primaria en pacientes con colitis ulcerosa y el riesgo de desarrollar malignidades: un extenso estudio prospectivo

Background/aim: primary sclerosing cholangitis (PSC) is associated with ulcerative colitis (UC) and seems to be a risk factor for colon cancer. However, taking into account that no data are available in South American population, we analyzed the prevalence of PSC in 1.333 patients with UC and the risk for developing colon cancer. Material: patients with persistent increases of alkaline phosphatase were studied by cholangiography and liver biopsy. To assess the risk of colon cancer, each patient with PSC and UC was matched with two control patients with UC without PSC of the same age, gender, extent and duration of UC. Results: the whole prevalence of PSC was 2.9% (39 patients) reaching 6.2% in extensive colitis. Seven (18 %) out of 39 patients with PSC developed colorectal carcinoma compared with 2 out of 78 (2.6%) in the control group (p=0.006). The cumulative risk of colorectal carcinoma was 11% and 18% after 10 and 20 years in the PSC group compared with 2% and 7% in the control group, respectively (p=0.002). Conclusion: this is the first prospective study performed in Latin America showing that the prevalence of PSC in patients with UC is similar to that reported in the Anglo-Saxon population. Patients with UC and PSC have a high risk of colorectal cancer.

Introducción/objetivos: la colangitis esclerosante primaria (CEP) se asocia a colitis ulcerosa (CU) y parece ser un factor de riesgo para cáncer de colon. Sin embargo, teniendo en cuenta que no existen datos disponibles en población de Sudamérica, nosotros analizamos la prevalencia de CEP en 1.333 pacientes con CU y el riesgo de desarrollar cáncer de colon. Material: los pacientes con fosfatasa alcalina persistentemente elevada fueron estudiados con colangiografía y biopsia hepática. Para determinar el riesgo de cáncer de colon cada paciente con CEP y CU fueron apareados con dos pacientes controles con CU sin CEP de la misma edad, sexo, extensión y duración de la CU. Resultados: la prevalencia total de CEP fue de 2.9% (39 pacientes), alcanzando una prevalencia del 6.2% en colitis extensa. Siete (18%) de 39 pacientes con CEP desarrollaron cáncer colorectal comparado con 2 de 78 en el grupo control (p=0.006). El riesgo acumulado de cáncer colorectal fue 11 y 18% después de 10 y 20 años en el grupo con CEP comparado con 2 y 7% en el grupo control, respectivamente (p=0.002). Conclusión: este es el primer estudio prospectivo realizado en Latinoamérica mostrando que la prevalencia de CEP en pacientes con CU es similar a la reportada en población anglosajona. Los pacientes con CU y CEP tienen un alto riesgo de cáncer colorectal.

Colangitis esclerosante primaria en paciente con panhipopituitarismo autoinmune: presentación de 1 caso / Primary sclerosing cholangitis in a patient with autoimmune panhypopituitarism: a case report

Se presentó un paciente con diagnóstico de un panhipopituitarismo autoinmune (diabetes insípida vasopresinsensible, hiperprolactinemia, hipotiroidismo, hipogonadismo secundario e insuficiencia corticosuprarrenal) establecido hace 3 años, que a finales del año 2005 comenzó a presentar dolor intenso en epigastrio e hipocondrio derecho, acompañado de vómitos con restos de alimentos, fiebre elevada con escalofríos, seguido de coluria, acolia e íctero verdínico, hepatomegalia, elevación importante de la bilirrubina, la fosfatasa alcalina leucocitaria y la gamma glutamil transpectidasa, leucocitosis, que requirió tratamiento con antibióticos por vía endovenosa y simuló, al inicio, los diagnósticos de litiasis coledociana, tumor de cabeza de páncreas y hepatitis colangiolítica por fármacos. Estos episodios se fueron repitiendo cada vez con más frecuencia, hasta llegarse al diagnóstico de colangitis esclerosante primaria por colangiopancreatografía retrógrada endoscópica y biopsia hepática. Se revisó la literatura, pero no se encontraron reportes de la asociación de colangitis esclerosante primaria con panhipopituitarismo autoinmune.

A case of a patient with diagnosis of autoimmune panhypopituitarism (vasopressinsensitivity diabetes insipidus, hyperprolactinemia, hypothyroidism, secondary hypogonadism and corticosuprarenal insufficiency) established 3 years ago, was reported. At the end of 2005, he began to present an acute pain in the epigastrium and right hypochondrium, accompanied with vomiting with food residual, high fever with chills, followed of choluria, acholia and greenish icterus, hepatomegaly, marked elevation of bilirubin, leukocyte alkaline phosphatase and gamma glutamil transpeptidase, leukocytosis, that required treatment with antibiotics by endovenous route and mimmicked, at the beginning, the diagnoses of choledocian lithiasis, pancreatic head tumor, and cholangiolitic hepatitis caused by drugs. These episodes were frequently repeated until the diagnosis of primary sclerosing cholangitis was made by retrograde endoscopic cholangiopancreatography and liver biopsy. Literature was reviewed, but no reports of association of primary sclerosing cholangitis with autoimmune panhypopituitarism were found.

Cáncer de colon pesquisado en masa o lesión asociada a displasia (DALM) en enfermedad de Crohn con colangitis esclerosante primaria / Colon cancer detected in dysplasia associated lesion or mass (DALM) in Crohn’s disease with primary sclerosing cholangitis

El cáncer colorectal es la complicación más severa y temible de la colitis ulcerosa y la enfermedad de Crohn. El riesgo de cáncer colorectal aumenta con la extensión, y duración de la enfermedad y la presencia de otros factores de riesgo. Actualmente, un tratamiento de mantención efectivo y una colonoscopía de vigilancia son las principales estrategias para prevenir esta complicación. Sin embargo, a pesar de una aceptación generalizada, no se ha logrado demostrar una reducción significativa de la mortalidad y morbilidad como resultado de la vigilancia endoscópica del cáncer y displasia, existiendo además, una gran variabilidad en la forma como es realizada. Con ésto en mente, en este artículo discutimos el caso de un paciente con colitis por enfermedad de Crohn, su evolución, y la detección colonoscópica de masa o lesión asociada a displasia (DALM) con foco de adenocarcinoma invasor.

Hepatic duct strictures: presentation and management

A prospective study was conducted in Combined Military Hospital Rawalpindi from January 1998 to December 2000[about 3 years]. A total of 11 patients with radiologically proven strictures of hepatic ducts were included in the study. All the cases were thoroughly investigated by history, physical examination, liver function tests [LFT's], Ultrasound abdomen, Percutaneous Transhepatic Cholangiography[PTC], Endoscopic Retrograde Cholangio-Pancreatography[ERCP] and Computerised Tomography [CT]scan. Out of 11 cases, 8 [72.72%]were male and 3 [27.27%]female with male to female ratio of 2.7:1. The age ranged from 33 years to 66 years with a mean age of 48 years. There were 8[72.72%] cases of benign stricture and 3[27.27%] with malignant pathology. Of the benign strictures, 4 were Type-I, 3 type -11 and 1 Type-III[Bismuth classification] while among malignant strictures 2 were Type-II and 1 Type-I [Klatskin's classification]. The jaundice was the main presenting symptom except in 1 case. Seven patients had abdominal pain, 5 had fever, 2 presented with weight loss and pruritis and mass was palpable in only one case Surgical bypass[hepatico-jejunostomy] was done in 9 cases, 1 with malignant pathology and 8 with benign strictures including redo surgery in two of the later group. Two patients found unfit to undergo surgery or because of advanced malignancy, were subjected to Percutaneous transhepatic biliary drainage[PTBD]. Patients follow- up post-operativly varied from 3 months to 2 years. Outcome of surgical bypass compared favorably with the other studies on this subject

Symptomatic chronic calcific pancreatitis in a patient with idiopathic ulcerative colitis and sclerosing cholangitis.

Although sclerosing cholangitis is well recognized to occur in patients with idiopathic inflammatory bowel disease, pancreatitis as a complication of ulcerative colitis is uncommon. We describe a patient who had idiopathic ulcerative colitis, primary sclerosing cholangitis and calcific pancreatitis with endocrine pancreatic deficiency, a rare combination.

Autoimmune sclerosing cholangitis: an overlap syndrome in a child.

We report an overlap syndrome of autoimmune chronic liver disease and primary sclerosing cholangitis in a young girl. This could be the first such report from India.

Colangite esclerosante primária associada à anemia hemolítica auto-imune / Primary sclerosing cholangitis associated to autoimmune hemolytic anemia

Colangite esclerosante primária (CEP) é doença de etiologia desconhecida caracterizada por inflamaçao e fibrose envolvendo a árvore biliar intra e/ou extra-hepática, levando à dilataçao e estenose dos ductos biliares. Estudos recentes têm demonstrado importante papel dos falores imunológicos e genético na patogênese desta condiçao. A anemia hemolítica auto-imune (AHA) caraacteriza-se por anticorpos antieritrocitários que parecem surgir como resultado de distúrbio funcional específico do linfócito T supressor. A oportunidade que tivemos de diagnosticar e tratar dois pacientes com CEP associada à AHA motiva o presente estudo. De nosso conhecimento, existem apenas dois relatos prévios desta associaçao publicados na literatura.

Primary sclerosing cholangitis in chronic ulcerative colitis: report of cases in Arabs and review.

Primary sclerosing cholangitis (PSC), a chronic cholestatic liver disease, is increasingly recognized in association with chronic ulcerative colitis (CUC). Two cases of PSC were diagnosed among 78 Arab patients (2.7%) with CUC followed up at Riyadh Central Hospital. Detailed case reports of the patients and review of PSC are presented, in order to draw attention to a hitherto under-diagnosed condition. This is the first report of PSC among Arabs.

Primary sclerosing cholangitis with chronic pancreatitis.

We report a patient with primary sclerosing cholangitis and associated pancreatitis. She had exocrine and endocrine pancreatic insufficiency.

Colangitis esclerosante primaria asociada a síndrome de Sjogren, fibrosis retroperitoneal y pancreatitis crónica: reporte de un caso / Primary sclerosing cholangitis associated with Sjogren syndrome, retroperitoneal fibrosis and chronic pancreatitis: report of case

La Colangitis Esclerosante Primaria (CEP) es una enfermedad de presentación poco frecuente y de etiología desconocida que suele presentarse como un cuadro de colestasis crónica afectando sobre todo a gente adulta joven, con una relación estrecha con al Colitis Ulcerativa Idiopática. Reportamos un casos de CEP asociada a Síndrome de Sjogren, Pancreatitis Crónica y Fibrosis Retroperitoneal, sin afección colónica, en una mujer de treinta años procedente de la amazonía peruana, tratada a base de drenaje externo y con un seguimiento por doce meses. Se hace una revisión de la literatura sobre la posible etiología autoinmune y sobre los conceptos clínicos, bioquímicos, radiológicos, histológicos y de terapia en esta entidad