Overlap syndromes
Summary
Definition
History and exam
Key diagnostic factors
- digital pallor/pain
- arthritis/arthralgia
- swollen hands
- sclerodactyly
- nail fold vascular changes
- dyspnea or cough
- GERD and heartburn
- myalgias or myositis
Other diagnostic factors
- hematuria
- lymphadenopathy
- alopecia
- skin rashes
- proximal muscle weakness
- trigeminal neuralgia
- headaches
- neuropsychiatric disease including psychosis and seizures
- peripheral neuropathy
- fever
Risk factors
- female sex
- age 20 to 40 years
- presence of specific HLA genotypes
Diagnostic tests
1st tests to order
- 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
Tests to consider
- 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
Emerging tests
- anti-Ku antibodies
- other antisynthetase antibodies (PL7, PL12, OJ, EJ, KS, Ha and others)
Treatment algorithm
all patients
Contributors
Authors
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
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
UK
Declarações
SB declares that he has no competing interests.
Créditos aos pareceristas
Os tópicos do BMJ Best Practice são constantemente atualizados, seguindo os desenvolvimentos das evidências e das diretrizes. Os pareceristas aqui listados revisaram o conteúdo pelo menos uma vez durante a história do tópico.
Declarações
As afiliações e declarações dos pareceristas referem--se ao momento da revisão.
Referências
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 diferenciaisDiretrizes
- 2022 Guideline for vaccinations in patients with rheumatic and musculoskeletal diseases
Mais DiretrizesFolhetos informativos para os pacientes
Rheumatoid arthritis
Acid reflux, heartburn, and gastroesophageal reflux disease (GERD)
Mais Folhetos informativos para os pacientes
Conectar-se ou assinar para acessar todo o BMJ Best Practice
O uso deste conteúdo está sujeito ao nosso aviso legal