Margarida Gaudêncio’s research while affiliated with Hospital da Figueira da Foz and other places

A síndrome de DRESS (drug rash with eosinophlia and systemic symptoms) trata-se de uma reação de hipersensibilidade induzida por fármacos, rara, complexa e potencialmente fatal. Geralmente evolui com erupção cutânea, alterações hematológicas, linfadenopatia, com envolvimento de órgãos. Os autores apresentam o caso clínico de um homem caucasiano de 79 anos que deu entrada no serviço de urgência devido a uma queimadura no tórax e abdómen após férias e exposição solar sem proteção solar. A sua medicação habitual há 2 anos é: perindopril+amlodipina, sinvastatina e alopurinol. Apresentava também um eritema maculopapular pruriginoso no dorso e erupção eritematosa confluente nos membros inferiores, semelhantes a lesões purpúricas. Dados laboratoriais demonstraram linfopenia e elevação das enzimas hepáticas. De acordo com o score RegiSCAR, este caso classifica-se como provável síndrome de DRESS. O alopurinol foi suspenso imediatamente e foi iniciada prednisolona. Foi observado um mês depois, com melhoria progressiva das lesões. O diagnóstico da síndrome de DRESS é desafiante e deve-se suspeitar do seu diagnóstico num doente sob fármacos de alto risco com clínica característica. A abordagem inicial consiste no tratamento de suporte e na suspensão imediata do fármaco. No caso apresentado, o doente queixava-se de queimadura, mas apresentava uma toxidermia por alopurinol que se manifestou de forma bizarra.

Eosinophilic gastroenteritis (EGE) is a rare gastrointestinal disease characterized by generalized abdominal pain, nausea, vomiting, diarrhea, gastrointestinal bleeding and weight loss. The etiology and pathogenesis are not well understood and mostly based on case reports. Clinical presentation may vary depending on sites and depth of involvement of the gastrointestinal tract. The diagnosis is usually confirmed by histology that shows eosinophilic infiltration and the absence of secondary cause of eosinophilia.The authors present a case report of a 47-year-old woman that was diagnosed with dyslipidemia, obesity and allergic rhinitis. She had no significant family history. She was admitted in internal medicine department with 2 weeks of abdominal pain, nausea, vomiting, diarrhea and weight loss (> 10%). Further study revealed increased eosinophil count, normocytic anemia, elevated erythrocyte sedimentation rate and normal Ig E levels. Digestive endoscopic study was performed, and multiple biopsy specimens showed moderate eosinophilic infiltration in stomach and duodenal mucosa.The patient was started on prednisolone, with clinical improvement. Follow-up go the patient twenty years after the beginning of this treatment showed stabilization of clinical symptoms and laboratory tests.So, eosinophilic gastroenteritis is characterized by three criteria - presence of gastrointestinal symptoms, histologic evidence of eosinophilic infiltration and exclusion of other causes of tissue eosinophilia. The treatment is based on the severity of symptoms. Corticosteroids are the mainstay of therapy, so the usual dose of prednisolone/prednisone is 20-40 mg daily for two weeks with tapering thereafter. In the literature, the use of montelukast and biologic agents have been reported.

O envelhecimento populacional constitui uma das principais transformações sociais do século XXI, com implicações transversais a todos os setores da sociedade. Este envelhecimento está acompanhado de um aumento da prevalência de doenças oncológicas e crónicas, progressivas, com elevado grau de dependência funcional, declínio cognitivo, diminuição da qualidade de vida e aumento da taxa de mortalidade.A transformação social que estamos a assistir implica a necessidade urgente de planear a alocação de serviços de apoio ao fim de vida, nomeadamente o desenvolvimento dos cuidados paliativos.Mundialmente, é muito frequente o final de vida ocorrer em meio hospital, sendo que, Portugal não é exceção. Diversos estudos têm demonstrado uma enorme variabilidade na qualidade dos cuidados em fim de vida nos hospitais de agudos. Alguns estudos evidenciam o problema do tratamento em fim de vida nos hospitais de agudos, bem como, a grande dificuldade dos médicos em decidir quando suspender os cuidados curativos e iniciar o suporte paliativo.De acordo com alguns dados a nível nacional, a maioria dos portugueses prefere morrer no domicílio, no entanto, a realidade é outra. A falta de acesso aos cuidados médicos é um dos principais motivos para a recusa do processo de morte em domicílio. A maioria dos familiares, embora possa defender a morte no domicílio, entende que esta deve ocorrer no hospital pela necessidade de cuidados permanentes e pela falta de apoio domiciliário que garanta uma assistência de qualidade.Como tal, urge a necessidade urgente de se repensar as políticas nacionais em saúde, procurando melhorar a acessibilidade aos cuidados paliativos, nomeadamente com a criação de equipas comunitárias/domiciliárias, de modo a melhorar o suporte destes doentes no domicílio e assim, libertar os hospitais de agudos.

Introduction: ANCA associated vasculitis commonly affects the kidneys. The intense inflammatory damage disrupts the glomerular architecture. Induction immunosuppressive therapy is responsible for a large part of the morbidity and mortality of these patients, due to infectious complications. This highlights the importance of defining risk factors associated with a worse renal prognosis in order to select the patients who would benefit the most from immunosuppressive therapy when it comes to renal limited vasculitis. Methods: Retrospective collection of data from patients admitted to the Coimbra’s University Hospital Nephrology Department with the diagnosis of de novo ANCA vasculitis, between 01-06-2009 and 01-06-2019. Data were analysed with SPSS v26® using parametric and nonparametric tests, Kaplan Meyer survival and ROC curve analysis. Results: There were 81 cases of de novo vasculitis, mainly due to anti-MPO antibody associated vasculitis (N=69; 85.2%). Mean age at diagnosis was 67.4 ± 15.7 years and most patients were male (N=47; 58%). At admission, patients had a mean serum creatinine (sCr) of 6.8 ± 4.0 mg/dL. Dialysis was required in 23 (28.4%) patients at admission and 44.4% were dependent on renal replacement therapy at discharge. Among dialysis-dependent patients at discharge treated with immunosuppression for at least 3 months (N=15) we observed partial kidney recovery in 2 (13.3%). Deaths were mostly (N=8/11; 72.7%) caused by infections. Discussion: Our results call into question the need for aggressive induction treatment in dialysis-dependent patients without extrarenal manifestations.

Ramsay Hunt syndrome is a rare complication of herpes zoster that results from reactivation of varicella-zoster virus in the geniculate ganglion of the VII cranial nerve. Immunosuppression can lead to reactivation of latent varicella-zoster virus, resulting in herpes zoster. Here, we present a case of Ramsay Hunt syndrome in a patient with ulcerative colitis under treatment with infliximab. Learning points: Ramsay Hunt syndrome is a rare form of herpes zoster and characterized by the presence of otalgia, facial palsy, vertigo and vesicular rash in the external ear or on the oropharynx.Treatment with TNF inhibitors increases the risk of its development.Although not generally recommended, vaccination may reduce the risk of herpes zoster recurrence during TNF inhibitor therapy.

Cryoglobulinaemia is defined as the presence of cryoglobulins in the serum, which are immunoglobulins that reversibly precipitate and form a gel when the temperature is <37ºC. Autoimmune diseases such as Sjogren's syndrome, systemic lupus erythematosus and rheumatoid arthritis could be associated with mixed cryoglobulinaemia vasculitis (MCV). The treatment of MCV generally consists of glucocorticoids, cytotoxic agents such as cyclophosphamide, plasmapheresis or anti-CD20 monoclonal antibodies including rituximab. Here, we present a case of a 60-year-old woman who developed type II MCV in the context of overlap autoimmune disease and who has been treated with a new anti-CD20 agent, obinutuzumab. Learning points: Mixed cryoglobulinaemia can occur in the context of autoimmune diseases such as Sjogren's syndrome, systemic lupus erythematosus and rheumatoid arthritis.The treatment generally consists of glucocorticoids, cytotoxic agents such as cyclophosphamide, plasmapheresis or anti-CD20 monoclonal antibodies including rituximab.New generations of humanized anti-CD20 monoclonal antibodies such as obinutuzumab have been developed to increase complement-dependent cytotoxicity and/or antibody-dependent cellular cytotoxicity, while limiting immunogenicity. These new optimized B-cell depletion strategies could be very interesting and useful in autoimmune disease treatment.

Cutaneous infections caused by the Mycobacterium chelonae complex show a heterogeneous clinical presentation, which varies according to the patient's immune status. Most standard antimycobacterials have no effect against these species. Clarithromycin alone was shown to provide adequate treatment, although resistance has been reported. Consequently, the literature supports multi-drug therapy to combat resistant strains. Here, we describe the case of a 59-year-old man under systemic immunosuppressive therapy who developed cutaneous lesions whose evolution was highly suggestive of atypical infection. Learning points: Mycobacterium chelonae is a ubiquitous species of mycobacteria found in the environment; cutaneous infections by the M. chelonae complex show a heterogeneous clinical presentation.The combination of linezolid and clarithromycin has been used in some cases, with rapid clinical resolution and less or no relapse observed after long-term follow-up.Internal Medicine is the appropriate speciality to treat particularly complex or multisystem diseases, such as infections in immunocompromised patients.

Mixed cryoglobulinaemia vasculitis (MCV) is a systemic vasculitis of the small and medium-size vessels caused by active hepatitis C (HCV) infection in >80% of cases. Beuthien et al. presented the first case of MCV with undetectable HCV after 10 months of therapy. In the last few years, more authors have described other cases of symptomatic MCV after 1 year of persistent HCV eradication. Here, we present a case report of a 57-year-old man who developed MCV with renal involvement after 3 years of HCV eradication with interferon therapy. Learning points: Mixed cryoglobulinaemia can occur after persistent hepatitis C virus eradication.Most cases described in the literature presented mixed cryoglobulinaemia vasculitis (MCV) after 1 year of HCV eradication compared with after 3 years of persistent eradication in our case.The exact mechanism linking HCV and B-cells is not fully understood, but the main factor seems to be the sustained HCV antigenic stimulation of the B-cell compartment.

A amoxicilina/ácido clavulânico é um antibiótico muito usado na prática clínica para diversas infeções. Está associada a uma pequena percentagem de casos de lesão hepática secundária a fármacos, sendo a hepatite e colestase complicações raras. Os autores apresentam o caso clínico de doente, de 65 anos, género masculino, admitido no serviço de urgência por dor abdominal, colúria, acolia fecal, prurido generalizado e anorexia com 4 dias de evolução. Nos 21 dias prévios, fez curso de 7 dias de antibioterapia com amoxicilina/ácido clavulânico por amigdalite, negando uso de outros fármacos. Dos exames complementares efetuados, destaca-se hiperbilirrubinémia direta, elevação das transaminases, fosfatase alcalina e gama-GT. As serologias víricas, bacterianas e de auto-imunidade foram negativas. Realizou biópsia hepática que mostrou inflamação hepatocelular, colestase e lesão dos ductos biliares. Conclui-se tratar-se de hepatite colestática secundária a amoxicilina/ácido clavulânico. Foi submetido a terapêutica de suporte, com colestiramina e ácido ursodesoxicólico para controlo de prurido, não realizando nenhum tratamento específico.

A telangiectasia hemorrágica hereditária ou síndrome Osler-Weber-Rendu é uma doença vascular hereditária autossómica dominante, que se apresenta, geralmente, com telangiectasias mucocutâneas, epistaxe, hemorragia gastrointestinal, anemia ferripriva e malformações arteriovenosas.Os autores apresentam o caso clínico de um doente, género masculino, 78 anos, com insuficiência cardíaca descompensada, anemia ferripriva com necessidade transfusional e múltiplas telangiectasias. Nos antecedentes, destacava-se uma história de epistaxes espontâneas e recorrentes desde a juventude e episódio de hemorragia digestiva recente. Durante o internamento, apresentou epistaxe e hematoquézias, complicados com choque hipovolémico. Foi admitido o diagnóstico de síndrome de Osler-Weber-Rendu, tendo iniciado hormonoterapia. O internamento prolongou-se por complicações hemorrágicas e infeciosas, tendo o doente falecido ao 30º dia em edema agudo do pulmão.O caso apresentado corresponde a síndrome de Osler-Weber-Rendu, com critérios clínicos, apresentando uma evolução desfavorável.