Overlap syndromes

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Última revisão: 23 May 2025

Última atualização: 14 Nov 2023

Overlap syndromes refers to a group of conditions that have clinical features of, and meet classification criteria for, more than one well-characterized rheumatic disease.

The spectrum of overlap syndromes includes mixed connective tissue disease (MCTD); antisynthetase syndrome; and polymyositis/scleroderma (PM/Scl) overlap syndrome.

MCTD is a distinct clinical entity characterized by overlapping features of systemic lupus erythematosus, scleroderma, myositis, and rheumatoid arthritis in the setting of a high titer of autoantibodies to U1 ribonucleoprotein.

Antisynthetase syndromes form a distinct group characterized by antibodies directed against various aminoacyl-tRNA synthetase enzymes with overlapping clinical features of myositis, arthritis, and interstitial lung disease.

PM/Scl syndrome is characterized by overlapping features of scleroderma and polymyositis, PM/Scl antibody, Raynaud phenomenon, tendon inflammation, and interstitial lung disease.

Treatment of overlap syndromes is tailored to the active clinical manifestations and ranges from supportive therapy to cytotoxic immunosuppressive regimens.

Definição

"Overlap syndromes" refers to a diverse group of conditions that have clinical features of, and meet classification criteria for, more than 1 well-characterized rheumatic disease. They usually present subacutely with clinical manifestations that can include different organ systems. The pattern of organ involvement reflects the characteristic features of the well-defined rheumatic diseases occurring together.

História e exame físico

Principais fatores diagnósticos

digital pallor/pain
arthritis/arthralgia
swollen hands
sclerodactyly
nail fold vascular changes
dyspnea or cough
GERD and heartburn
myalgias or myositis

Detalhes completos

Outros fatores diagnósticos

hematuria
lymphadenopathy
alopecia
skin rashes
proximal muscle weakness
trigeminal neuralgia
headaches
neuropsychiatric disease including psychosis and seizures
peripheral neuropathy
fever

Detalhes completos

Fatores de risco

female sex
age 20 to 40 years
presence of specific HLA genotypes

Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

CBC
erythrocyte sedimentation rate
CRP
serum BUN and creatinine
rheumatoid factor
antinuclear antibodies
anti-cyclic citrullinated peptide (anti-CCP) antibody
urinalysis
anti-U1 ribonucleoprotein
anti-Jo-1

Detalhes completos

Investigações a serem consideradas

creatine kinase
anti-double-stranded DNA
Smith antigen
anti-SS-A and anti-SS-B
additional antibody tests (anti-Scl 70, anticentromere antibodies, anti-RNA polymerase III, anti-PM/Scl antibodies)
pulmonary function tests (spirometry, lung volumes and diffusion capacity measurement)
CXR
high-resolution CT scan of chest
echocardiogram
right-heart catheterization
barium swallow
upper gastrointestinal endoscopy ± biopsy
plain x-ray of affected joint(s)
electromyography
nerve conduction studies
muscle biopsy
lung biopsy
renal biopsy

Detalhes completos

Novos exames

anti-Ku antibodies
other antisynthetase antibodies (PL7, PL12, OJ, EJ, KS, Ha and others)

Algoritmo de tratamento

CONTÍNUA

all patients

Colaboradores

Autores

Larry Young, MD

Associate Professor of Medicine

Division of Rheumatology

Miller School of Medicine

University of Miami

Miami

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

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

Declarações

RO declares that he has no competing interests.

Alan Bridges, MD

Professor and Vice Chair

Department of Medicine

University of Wisconsin Hospital

Madison

Declarações

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

Declarações

SB declares that he has no competing interests.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

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.Texto completo Resumo

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.

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais
- Systemic lupus erythematosus (SLE)
- Polymyositis
- Scleroderma
Mais Diagnósticos diferenciais
Diretrizes
- 2022 Guideline for vaccinations in patients with rheumatic and musculoskeletal diseases
Mais Diretrizes
Folhetos informativos para os pacientes
Rheumatoid arthritis
Acid reflux, heartburn, and gastroesophageal reflux disease (GERD)
Mais Folhetos informativos para os pacientes
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Overlap syndromes

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

Outros fatores diagnósticos

Fatores de risco

Investigações diagnósticas

Primeiras investigações a serem solicitadas

Investigações a serem consideradas

Novos exames

Algoritmo de tratamento

all patients

Colaboradores

Autores

Larry Young, MD

Declarações

Carlos Lozada, MD

Declarações

Agradecimentos

Declarações

Revisores

Robert Ortmann, MD

Declarações

Alan Bridges, MD

Declarações

Simon Bowman, PhD, FRCP

Declarações

Referências

Principais artigos

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais

Diretrizes

Folhetos informativos para os pacientes

Conectar-se ou assinar para acessar todo o BMJ Best Practice

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