Colangitis biliar primaria: experiencia de cinco años en el Hospital Clínico de la Universidad de Chile / Primary biliary cholangitis. Experience in 179 patients

BACKGROUND: Primary biliary cholangitis (PBC) is a chronic autoimmune cholestatic disease, which can progress to cirrhosis. It mainly affects middle-aged women. Its most frequent form of presentation is asymptomatic with biochemical cholestasis and the presence of antimitochondrial antibodies (AMA). AIM: To describe the epidemiological characteristics, clinical presentation and treatment for patients with PBC at a clinical hospital. MATERIAL AND METHODS: Descriptive, observational, retrospective study, carried out between January 2015 and December 2020. Results: 179 patients (158 women) were cared in the study period. At the time of diagnosis, the median age was 54 years (range 24-76), 55% of them were asymptomatic, 45% had fatigue and 28% had pruritus. Positive AMA were present in 65% of patients, antinuclear antibodies (ANA) in 51%, and anti-smooth muscle antibodies (ASMA) in 9%. Immunoglobulin M (IgM) was elevated in 30% of the patients and 50% of patients were biopsied. Splenomegaly and esophageal varices were present in 24 and 22% of patients, respectively. PBC was associated with Sjogren's syndrome in 15%, hypothyroidism in 14%, osteoporosis in 13%, and scleroderma in 8%. CONCLUSIONS: The epidemiological characteristics of our patients agree with those published abroad. Laboratory cholestasis associated with the presence of AMA, currently allows diagnosis without the need for histological study. Ursodeoxycholic acid (UDCA) is the first-line treatment for patients with PBC. The use of biochemical response criteria is essential to identify patients who require other UDCA alternatives for isolated or combined treatment.

Guía de práctica clínica en atresia de las vías biliares / Clinical practice guidelines in biliary atresia

Basada en la mejor evidencia científica disponible, se presenta la guía de práctica clínica en atresia de vías biliares, la cual se define como una obstrucción progresiva de las vías biliares intra- o extrahepáticas en recién nacidos y lactantes pequeños y causa ictericia colestásica grave y cirrosis hepática. Es una enfermedad poco frecuente, de etiología desconocida, con mayor incidencia en países asiáticos. Clínicamente se expresa por ictericia obstructiva, acolia, coluria y hepatoesplenomegalia. Los complementarios expresan una hiperbilirrubinemia directa con aumento de las enzimas hepáticas, y el diagnóstico se confirma en nuestro hospital con la colangiografía, generalmente en el curso de una laparoscopía. El tratamiento es quirúrgico y consiste en la portoenterostomía de Kasai, con mejores resultados en cuanto al drenaje biliar si se realiza antes de los 60 días de vida, así como el trasplante hepático. La enfermedad tiene un curso progresivo hacia la cirrosis hepática en etapas tempranas de la vida, sobre todo si no se realiza el diagnóstico y tratamiento quirúrgico precozmente, con implicaciones en la supervivencia y calidad de vida de estos pacientes. Por tanto, referir precozmente al paciente con sospecha de atresia de vías biliares a un centro especializado es la piedra angular de la actitud médica. La presente guía de práctica clínica pretende ofrecer las herramientas técnicas estandarizadas para mejorar los resultados a los pacientes con esta enfermedad, así como contribuir con la docencia y las investigaciones(AU)

Based on the best scientific evidence available, it is presented the clinical practice guidelines on biliary atresia. This disease is defined as a progressive obstruction of the intra and/or extrahepatic bile ducts in newborns and young infants, causing severe cholestatic jaundice and cirrhosis of the liver. It is a rare disease of unknown etiology, with a higher incidence in Asian countries. It is clinically expressed by obstructive jaundice, acholia, choluria and hepatosplenomegaly. Laboratory tests show a direct hyperbilirubin and elevated liver enzymes, and in our hospital, the diagnosis is confirmed by a cholangiography, usually during a laparoscopy procedure. It has surgical treatment and it involves a Kasai portoenterostomy, with better results regarding biliary drainage if it is performed before 60 days of life, as well as liver transplant. This condition has a progressive course towards liver cirrhosis in early stages of life, mainly if the diagnosis and surgical treatment are not made timely, with implications for the survival and quality of life of these patients. Therefore, early referral of the patient with suspected biliary atresia to a specialized center is the cornerstone of the medical attitude. This clinical practice guidelines aims to offer standardized technical tools to improve the outcome for patients with this disease, as well as to contribute to teaching and research(AU)

Association between three autoimmune diseases: vitiligo, primary biliary cirrhosis, and Sjögren's syndrome

Abstract Although the association of multiple autoimmune diseases has already been widely described, no reports of the association between vitiligo, primary biliary cirrhosis and Sjogren's syndrome were retrieved in the SciELO and PubMed databases. The authors describe the case of a female patient who was diagnosed with primary biliary cirrhosis and Sjogren's syndrome at age 54. At age 58, she developed vitiligo restricted to the face, associated with significant impairment of self-esteem and quality of life. Antinuclear antibody was negative at the onset of the condition, but became positive after phototherapy initiation. In general, the occurrence of multiple autoimmune diseases in the same patient is known as a mosaic of autoimmunity. However, specific mechanisms appear to interconnect primary biliary cirrhosis and Sjogren's syndrome, such as PDC-E2-mediated generalized epithelitis.

Retrospective analysis of autoimmune hepatitis-primary biliary cirrhosis overlap syndrome in Korea: characteristics, treatments, and outcomes

BACKGROUND/AIMS: Overlap syndrome of autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC) (AIH-PBC overlap syndrome) is a rare disease that has not been clearly characterized in Korean patients. This study investigated the clinical features of AIH-PBC overlap syndrome compared with those of AIH and PBC alone. METHODS: This retrospective cohort study included 158 consecutive patients who were diagnosed as AIH (n=61), PBC (n=81), or AIH-PBC overlap syndrome (n=9) based on the Paris and the International Autoimmune Hepatitis Group (IAIHG) criteria from 2001 to 2011 in Korea. We compared the clinical features of these three groups retrospectively, including their biochemical characteristics, treatments, responses, and clinical outcomes. RESULTS: The AIH-PBC overlap syndrome patients exhibited biochemical characteristics of both AIH and PBC, and showed a similar response to ursodeoxycholic acid (UDCA) monotherapy as for the PBC patients. However, the response of AIH-PBC overlap syndrome patients to UDCA and steroid combination therapy was worse than the response of AIH patients to steroid-based therapy (P=0.024). Liver cirrhosis developed more rapidly in AIH-PBC overlap syndrome patients than in AIH patients group (P=0.013), but there was no difference between AIH-PBC overlap syndrome patients and PBC patients. The rates of developing hepatic decompensation did not differ significantly between the groups. CONCLUSIONS: The AIH-PBC overlap syndrome patients exhibited a worse response to UDCA and steroid combination therapy and a faster cirrhotic progression compared with AIH patients.

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.

Pseudocisto pancreático associado à doença hepática na gestação: relato de caso / Pancreatic pseudocyst associated with liver disorder in pregnancy: case report

As doenças hepáticas, de vias biliares e pancreáticas podem causar grande morbimortalidade materno-fetal. Nesses casos, o diagnóstico e o tratamento imediatos são essenciais para reverter esse processo e melhorar o prognóstico materno-fetal. Apresentamos um caso clínico de paciente primigesta de 17 anos que foi internada por disfunção hepática severa. Ela foi submetida a cesariana e a duas laparotomias subsequentes decorrentes de sangramento e evisceração. Posteriormente, a paciente apresentou pseudocisto pancreático com manejo conservador e boa evolução. Concluímos que o conhecimento das doenças hepáticas, de vias biliares e pancreáticas na gestação e suas complicações é fundamental para reduzir a morbimortalidade materno-fetal.

Pregnancy-associated liver, biliary and pancreatic disorders are conditions that can cause high maternal and fetal morbidity and mortality. In such cases, prompt diagnosis and immediate treatment are essential for the reversal of the underlying process and for maternal and fetal survival. We presented a clinical case of a 17-year-old primigravid woman hospitalized with severe liver dysfunction. She subsequently evolved to cesarean delivery and two laparotomies secondary to bleeding and evisceration. Afterwards, she presented with pancreatic pseudocyst. She was submitted to conservative management and had a good evolution. We concluded that the knowledge of the pregnancy-associated liver, biliary and pancreatic disorders and their complications is fundamental to reduce maternal and fetal morbidity and mortality.

Visceral Leishmaniasis Mimicking Autoimmune Hepatitis, Primary Biliary Cirrhosis, and Systemic Lupus Erythematosus Overlap

Visceral leishmaniasis (VL) is a life-threatening infection caused by Leishmania species. In addition to typical clinical findings as fever, hepatosplenomegaly, and cachexia, VL is associated with autoimmune phenomena. To date, VL mimicking or exacerbating various autoimmune diseases have been described, including systemic lupus erythematosus (SLE), rheumatoid arthritis, and autoimmune hepatitis (AIH). Herein, we presented a patient with VL who had overlapping clinical features with SLE, AIH, as well as antimitochondrial antibody (AMA-M2) positive primary biliary cirrhosis.

Causes of hepatic granuloma: a 12-year single center experience from Southern Iran

Hepatic granuloma is reported in 2 - 15% of liver biopsy specimens. It is relatively easy for the pathologist to diagnose, but sometimes arriving at a specific etiology is quite difficult. Until now, there are few published studies about the etiology of hepatic granuloma in Iran. In this study, we attempt to determine the causes of hepatic granuloma from one of the largest referral centers in this country. In a retrospective study over 12 years, a hepatopathologist reviewed all liver biopsies with granuloma. The medical records, including clinical findings, autoantibodies, viral markers, imaging studies, drug histories, and all other specialized tests, such as molecular studies, were reviewed to reach a definite diagnosis. During 12 years, there were 72 cases diagnosed with liver granuloma. The most common cause of hepatic granuloma was infectious, with Mycobacterium tuberculosis [52.8%]. The second most common cause was visceral leishmaniasis in 8.3% of biopsies. Other less common causes were fungal infections, visceral larva migrans, primary biliary cirrhosis, and hepatitis C, each in 4.2% of cases. Autoimmune hepatitis was diagnosed in 2.8% of patients. Lymphoma, drug induced, disseminated BCGitis, CMV infection, foreign body reaction and sarcoidosis, were each found in 1.4% of the liver biopsies. After all investigations, there were 12.5% idiopathic hepatic granulomas. According to this study, the most common cause of hepatic granuloma in Iran is tuberculosis. This finding is completely different from western countries and very similar to the results of countries such as Saudi Arabia

Primary biliary cirrhosis and autoimmune hepatitis switch over: report of 2 cases.

Overlap syndrome in Autoimmune liver disease is not unusual but the switch over from one type of autoimmune liver disease to another is not well recognized. We report 2 cases of primary biliary cirrhosis (PBC) who with time, crossed over to autoimmune hepatitis (AIH). Recognition of such switch over from PBC to AIH is important for appropriate change in management of the patients.

Primary biliary cirrhosis complicated by transverse myelitis in a patient without Sjögren's syndrome.

Transverse myelitis is an acute inflammatory process, affecting one or more segments of the spinal cord. Its association with primary biliary cirrhosis has been documented in only four cases--all along with Sjögren's syndrome. Herein, we report for the first time, a patient who developed recurrent acute transverse myelitis in association with primary biliary cirrhosis without any clinical or histological indication of Sjögren's syndrome. A 42-year-old woman with primary biliary cirrhosis developed acute onset quadriparesis and urinary retention. Diagnostic evaluation excluded the presence of Sjögren's syndrome, other autoimmune syndromes, infections and multiple sclerosis. Magnetic resonance imaging of the spinal cord disclosed signal intensity abnormalities from C1 to T2 after gadolinium enhancement. As diagnosis of acute transverse myelitis was prominent, the patient was treated with intravenous methylprednisolone. The patient had a fair outcome despite an early recurrence of the symptoms after treatment withdrawal.

Afecciones hepatobiliares autoinmunes / Auto-immune hepatobiliary diseases

Las afecciones hepato-biliares autoinmunes son relativamente infrecuentes en la práctica clínica y es posible que una cierta proporción de ellas pasen inadvertida o se incluyan en el grupo de las hepatopatías criptogénicas. Histológicamente se caracterizan por una inflamación crónica, persistente y progresiva de las células y conductos intrahepáticos que es característica sólo en las etapas iniciales ya que en las avanzadas son ocultadas por la fibrosis propia de la cirrosis. Clínicamente se destacan las formas colestásicas con prurito, ictericia, compromiso del estado general. En las formas avanzadas aparecen las manifestaciones de insuficiencia hepática; la hipertensión portal y las neoplasias (hepatocarcinoma y colangiocarcinomas) que son menos frecuentes en estas hepatologías autoinmunes que en las por virus C. El tratamiento médico se basa en el empleo de corticoides y/o azatioprina en el caso de las hepatitis autoinmunes y de colestiramina o ácido ursodeoxicólico en la cirrosis biliar primaria y en la colangitis esclerosante.

Primary biliary cirrhosis and autoimmune hepatitis overlap syndrome.

Primary biliary cirrhosis and autoimmune hepatitis are chronic immune-mediated liver disorders. An overlap syndrome is now recognized with mixed biochemical, serological and histological features. We report a 55-year-old lady with overlap syndrome, which presented with jaundice, pruritus and associated renal failure. She succumbed to her illness.

Xantomatosis eruptiva: a propósito de un caso / Eruptive xanthomata

Se presenta el caso de un paciente de sexo masculino y 41 años, diabético tipo II, que manifiesta la aparición en forma abrupta de múltiples lesiones diagnosticadas como xantomas eruptivos. Debido a que la hiperlipidemia puede presentarse con xantomas, los dermatólogos pueden ser los primeros en diagnosticar éstas lesiones cutáneas asociadas con anormalidades lipídicas

Non-Hodgkin's lymphoma & primary biliary cirrhosis with Sjogren's syndrome

Sjogren's syndrome (SS) is an autoimmune disease characterized by a lymphocytic infiltration of the salivary and lacrimal glands leading to a progressive destruction of these glands due to the production of autoantibodies. This disorder is either isolated (primary SS) or associated with other systemic diseases (secondary SS). The occurrence of B-cell non-Hodgkin's lymphoma (NHL) represents the major complication in the evolution of SS patients. The risk of developing NHL, which is equivalent for both primary and secondary SS, was estimated to be 44 times greater than that observed in a comparable normal population. NHLs in SS patients occur preferentially in the salivary glands and in other mucosa-associated lymphoid tissues (MALT). However, it can also occur in the lymph nodes or bone marrow. We documented a case of low-grade B-cell lymphoma of MALT in the right eyelid and primary biliary cirrhosis (PBC) of a patient with SS. To the best of our knowledge, this is the first case reported in Korea.

Primary biliary cirrhosis and myopathy: an uncommon association

Primary biliary cirrhosis (PBC) is a cholestatic liver disease, which is characterized by a chronic inflammatory destruction of intrahepatic bile ducts. It is a rare disorder whose precise etiology is still to be elucidated. Even though the liver is the principal target of PBC, other organ systems also might be affected. Muscular involvement has rarely been described in this disease, and in the majority of cases, muscular weakness has been interpreted as polymyositis. We report the case of a 48-year-old woman suffering from classic PBC, in association with a myopathy whose histological features are distinct from the cases reported before. We also performed a MEDLINE research for PBC and concomitant muscular diseases

Colangite esclerosante primária / Primary Sclerosing Cholangitis

Colangite esclerosante primária (CEP) é uma doença colástica crônica e progressiva, de etiologia desconhecida, caracterizada por inflamação e fibrose das biliares intra e extra- hepáticas. Dois terços dos pacientes são portadores, também, de retocolite ulcerativa inespecífica (RCUI), por outro lado, CEP é a hepatopatia crônica mais comum entre os portadores de doença inflamatória intestinal (DII)...