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Mieloma múltiplo : do diagnóstico à terapêutica
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Resumo(s)
No âmbito do Mestrado de Análises Clínicas da Faculdade de Farmácia da Universidade de
Lisboa, foi realizado o Estágio Curricular no Laboratório Omnialab, localizado em Alverca, sob
orientação da Dra. Felisbela Abreu, no período de Novembro de 2022 a Junho de 2023. Neste
período, o estágio incidiu nas áreas de Bioquímica, Imunologia, Hematologia, Microbiologia e
Genética. O mesmo, resultou na elaboração do presente relatório, onde é realizada uma
descrição das valências frequentadas, bem como de alguns dos equipamentos contactados
e os analitos mais frequentemente solicitados na prática clínica (parte I).
Na parte II, encontra-se a monografia desenvolvida no âmbito da área científica Hematologia,
focando o tema “Mieloma Múltiplo: do Diagnóstico à Terapêutica”.
O mieloma múltiplo (MM) é uma neoplasia hematológica com proliferação de plasmócitos
monoclonais que infiltram a medula óssea e secretam paraproteínas, presentes no soro e/ou
urina, originando uma insuficiência medular, destruição óssea, hipercalcemia, insuficiência
renal (IR) e infeções recorrentes.
O mieloma é uma patologia grave que surge tardiamente, após os 65 anos e na maioria dos
casos cursa com ausência de sintomas. O diagnóstico é, em muitas ocasiões, feito de forma
acidental, aquando da realização de análises de rotina.
O objetivo do trabalho desenvolvido consiste em abordar as diferentes etapas do diagnóstico
e da terapêutica do mieloma múltiplo.
O diagnóstico laboratorial integra o primeiro passo na abordagem do doente, sendo a
eletroforese e a imunofixação de proteínas os exames de eleição. Para complementar estes
dados devem ser realizados testes específicos para estratificar o risco da doença e determinar
a elegibilidade do doente para o transplante de progenitores hematopoiéticos, recorrendo a
parâmetros hematológicos, bioquímicos, imunológicos, citogenéticos e imagiológicos.
Os biomarcadores preditivos de diagnóstico e prognóstico apresentam um impacto relevante
na evolução da doença.
Ao longo dos últimos anos, o tratamento do mieloma múltiplo sofreu grandes avanços com a
disponibilidade de várias opções terapêuticas o que veio aumentar, de forma considerável, a
sobrevivência livre de progressão (SLP) e a sobrevivência global (SG) dos doentes.
O tratamento do mieloma múltiplo está em constante mudança permitindo aumentar a
sobrevivência global e a qualidade de vida dos doentes, mas até à data, permanece incurável,
apesar dos avanços nas estratégias de tratamento, incluindo a utilização de novas
substâncias, tais como inibidores do proteossoma, medicamentos imunomoduladores e
anticorpos monoclonais.
Palavras chave: Análises Clínicas, Imunologia, Hematologia, Bioquímica, Microbiologia,
Controlo de qualidade, mieloma múltiplo, diagnóstico, abordagem terapêutica.
As part of the Master's Degree in Clinical Analysis at the Faculty of Pharmacy of the University of Lisbon, a Curricular Internship took place at the Omnialab Laboratory, located in Alverca, under the supervision of Dr Felisbela Abreu, from November 2022 to June 2023. During this period, the internship focused on the areas of Biochemistry, Immunology, Haematology, Microbiology and Genetics. It resulted in this report, in which a description is given of the departments attended, as well as some of the equipment contacted and the analytes most frequently requested in clinical practice (part I). Part II contains the monograph developed within the scientific area of Haematology, focusing on the theme "Multiple Myeloma: from Diagnosis to Therapy". Multiple myeloma (MM) is a hematological malignancie with a proliferation of monoclonal plasma cells that infiltrate the bone marrow and secrete paraproteins, which are present in the serum and/or urine, causing bone marrow failure, bone destruction, hypercalcemia, kidney failure and recurrent infections. Myeloma is a serious condition that appears late in life, after the age of 65, and in most cases has no symptoms. The diagnosis is often made accidentally when routine tests are carried out. The objective of this study is to discuss the different stages of diagnosis and treatment of multiple myeloma. Laboratory diagnosis is the first step in the patient's approach, with electrophoresis and protein immunofixation being the tests of choice. To corroborate such data, specific tests should be carried out to stratify the risk of the disease and determine the patient's eligibility for hematopoietic progenitor transplantation, using hematological, biochemical, immunological, cytogenetic and imaging parameters. Diagnostic and prognostic biomarkers have a significant impact on the evolution of the disease. Over the last few years, the treatment of multiple myeloma has undergone major advances with the availability of various therapeutic options which have considerably increased the progression-free survival (PFS) and overall survival (OS) of patients. The treatment of multiple myeloma is constantly changing, increasing overall survival and the quality of life of patients, but to date it remains incurable, even with advances in treatment strategies, including the use of new substances such as proteosome inhibitors, immunomodulatory drugs and monoclonal antibodies.
As part of the Master's Degree in Clinical Analysis at the Faculty of Pharmacy of the University of Lisbon, a Curricular Internship took place at the Omnialab Laboratory, located in Alverca, under the supervision of Dr Felisbela Abreu, from November 2022 to June 2023. During this period, the internship focused on the areas of Biochemistry, Immunology, Haematology, Microbiology and Genetics. It resulted in this report, in which a description is given of the departments attended, as well as some of the equipment contacted and the analytes most frequently requested in clinical practice (part I). Part II contains the monograph developed within the scientific area of Haematology, focusing on the theme "Multiple Myeloma: from Diagnosis to Therapy". Multiple myeloma (MM) is a hematological malignancie with a proliferation of monoclonal plasma cells that infiltrate the bone marrow and secrete paraproteins, which are present in the serum and/or urine, causing bone marrow failure, bone destruction, hypercalcemia, kidney failure and recurrent infections. Myeloma is a serious condition that appears late in life, after the age of 65, and in most cases has no symptoms. The diagnosis is often made accidentally when routine tests are carried out. The objective of this study is to discuss the different stages of diagnosis and treatment of multiple myeloma. Laboratory diagnosis is the first step in the patient's approach, with electrophoresis and protein immunofixation being the tests of choice. To corroborate such data, specific tests should be carried out to stratify the risk of the disease and determine the patient's eligibility for hematopoietic progenitor transplantation, using hematological, biochemical, immunological, cytogenetic and imaging parameters. Diagnostic and prognostic biomarkers have a significant impact on the evolution of the disease. Over the last few years, the treatment of multiple myeloma has undergone major advances with the availability of various therapeutic options which have considerably increased the progression-free survival (PFS) and overall survival (OS) of patients. The treatment of multiple myeloma is constantly changing, increasing overall survival and the quality of life of patients, but to date it remains incurable, even with advances in treatment strategies, including the use of new substances such as proteosome inhibitors, immunomodulatory drugs and monoclonal antibodies.
Descrição
Tese de mestrado, Análises Clínicas, 2023, Universidade de Lisboa, Faculdade de Farmácia.
Palavras-chave
Análises clínicas Imunologia Hematologia Bioquímica Microbiologia Controlo de qualidade Mieloma múltiplo Diagnóstico Abordagem terapêutica Teses de mestrado - 2023