Resumo
Definição
História e exame físico
Principais fatores diagnósticos
- presença de fatores de risco
- palidez/dor nos dedos
- artrite/artralgia
- mãos edemaciadas
- esclerodactilia
- alterações vasculares na dobra ungueal
- dispneia ou tosse
- doença do refluxo gastroesofágico (DRGE) e pirose
- mialgias ou miosite
Outros fatores diagnósticos
- hematúria
- linfadenopatia
- alopécia
- rashes cutâneos
- fraqueza muscular proximal
- neuralgia do trigêmeo
- cefaleias
- doença neuropsiquiátrica inclusive psicose e convulsões
- neuropatia periférica
- febre
Fatores de risco
- sexo feminino
- idade de 20 a 40 anos
- presença de genótipos específicos do antígeno leucocitário humano (HLA)
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- Hemograma completo
- velocidade de hemossedimentação
- proteína C-reativa
- ureia e creatinina séricas
- fator reumatoide
- fator antinuclear
- anticorpo antipeptídeo citrulinado cíclico (anti-CCP)
- urinálise
- anti-ribonucleoproteína U1
- anti-Jo-1
Investigações a serem consideradas
- creatina quinase
- anti-DNA de fita dupla
- antígeno de Smith
- anti-SS-A e anti-SS-B
- testes de anticorpos adicionais (anti-Scl 70, anticorpos anticentrômero, anti-RNA polimerase III, anticorpos anti-PM/Scl)
- testes de função pulmonar (espirometria, volumes pulmonares e medição da capacidade de difusão)
- radiografia torácica
- TC de alta resolução do tórax
- ecocardiograma
- cateterismo cardíaco direito
- esofagografia baritada
- endoscopia digestiva alta ± biópsia
- radiografia simples da(s) articulação(ões) afetada(s)
- eletromiografia
- estudos da condução nervosa
- biópsia muscular
- biópsia pulmonar
- biópsia renal
Novos exames
- anticorpos anti-Ku
- outros anticorpos antissintetase (PL7, PL12, JO, EJ, KS, Ha e outros)
Algoritmo de tratamento
todos os pacientes
Colaboradores
Autores
Larry Young, MD
Associate Professor of Medicine
Division of Rheumatology
Miller School of Medicine
University of Miami
Miami
FL
Declarações
LY declares that he has no competing interests.
Carlos Lozada, MD
Associate Professor of Medicine
Division of Rheumatology and Immunology
Miller School of Medicine
University of Miami
Miami
FL
Declarações
CL declares that he has no competing interests.
Agradecimentos
Dr Larry Young and Dr Carlos Lozada would like to gratefully acknowledge Dr Robert Hoffman, a previous contributor to this topic.
Declarações
RH has received NIH grants greater than 6 figures USD. RH is the author of some studies referenced in this topic. RH declares that he has no competing interests.
Revisores
Robert Ortmann, MD
Associate Professor and Director
Division of Rheumatology and Immunology
University of Arkansas for Medical Sciences
Little Rock
AR
Declarações
RO declares that he has no competing interests.
Alan Bridges, MD
Professor and Vice Chair
Department of Medicine
University of Wisconsin Hospital
Madison
WI
Disclosures
AB declares that he has no competing interests.
Simon Bowman, PhD, FRCP
Consultant Rheumatologist and Honorary Senior Clinical Lecturer in Rheumatology
Selly Oak Hospital
Birmingham
UK
Disclosures
SB declares that he has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
Ungprasert P, Crowson CS, Chowdhary VR, et al. Epidemiology of mixed connective tissue disease, 1985-2014: a population-based study. Arthritis Care Res (Hoboken). 2016 Dec;68(12):1843-8.Full text Abstract
Hoffman Robert W. 152 - Overlap syndromes. In: Hochberg Marc C, Silman Alan J, Smolen Josef S. et al., eds. Rheumatology. 6th ed. Maryland Heights, MO: Mosby; 2015, 1264-9.
Kasukawa R, Tojo T, Miyawaki S, et al. Preliminary diagnostic criteria for classification of mixed connective tissue disease. In: Kasukawa R, Sharp GC, eds. Mixed connective tissue disease and anti-nuclear antibodies. Amsterdam, the Netherlands: Elsevier; 1987:41-7.
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Lúpus eritematoso sistêmico (LES)
- Polimiosite
- Esclerodermia
More DifferentialsGuidelines
- 2022 Guideline for vaccinations in patients with rheumatic and musculoskeletal diseases
More GuidelinesPatient information
Refluxo gastroesofágico, pirose e doença do refluxo gastroesofágico (DRGE)
Artrite reumatoide
More Patient information
Log in or subscribe to access all of BMJ Best Practice
Use of this content is subject to our disclaimer