Overlap syndromes

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Última revisión: 18 Aug 2025

Última actualización: 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.

Definición

"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.

Anamnesis y examen

Principales factores de diagnóstico

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

Todos los datos

Otros factores de diagnóstico

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

Todos los datos

Factores de riesgo

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

Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

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

Todos los datos

Pruebas diagnósticas que deben considerarse

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

Todos los datos

Pruebas emergentes

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

Algoritmo de tratamiento

En curso

all patients

Colaboradores

Autores

Larry Young, MD

Associate Professor of Medicine

Division of Rheumatology

Miller School of Medicine

University of Miami

Miami

Divulgaciones

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

Divulgaciones

CL declares that he has no competing interests.

Agradecimientos

Dr Larry Young and Dr Carlos Lozada would like to gratefully acknowledge Dr Robert Hoffman, a previous contributor to this topic.

Divulgaciones

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 por pares

Robert Ortmann, MD

Associate Professor and Director

Division of Rheumatology and Immunology

University of Arkansas for Medical Sciences

Little Rock

Divulgaciones

RO declares that he has no competing interests.

Alan Bridges, MD

Professor and Vice Chair

Department of Medicine

University of Wisconsin Hospital

Madison

Divulgaciones

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

Divulgaciones

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.

Referencias

Nuestros equipos internos de evidencia y editoriales colaboran con colaboradores expertos internacionales y revisores pares para garantizar que brindemos acceso a la información más clínicamente relevante posible.

Artículos principales

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 Resumen

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.

Artículos de referencia

Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.

Diferenciales
- Systemic lupus erythematosus (SLE)
- Polymyositis
- Scleroderma
Más Diferenciales
Guías de práctica clínica
- 2022 Guideline for vaccinations in patients with rheumatic and musculoskeletal diseases
Más Guías de práctica clínica
Folletos para el paciente
Rheumatoid arthritis
Acid reflux, heartburn, and gastroesophageal reflux disease (GERD)
Más Folletos para el paciente
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Overlap syndromes

Resumen

Definición

Anamnesis y examen

Principales factores de diagnóstico

Otros factores de diagnóstico

Factores de riesgo

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

Pruebas diagnósticas que deben considerarse

Pruebas emergentes

Algoritmo de tratamiento

all patients

Colaboradores

Autores

Larry Young, MD

Divulgaciones

Carlos Lozada, MD

Divulgaciones

Agradecimientos

Divulgaciones

Revisores por pares

Robert Ortmann, MD

Divulgaciones

Alan Bridges, MD

Divulgaciones

Simon Bowman, PhD, FRCP

Divulgaciones

Peer reviewer acknowledgements

Disclosures

Referencias

Artículos principales

Artículos de referencia

Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.

Diferenciales

Guías de práctica clínica

Folletos para el paciente

Inicie sesión o suscríbase para acceder a todo el BMJ Best Practice

Inicie sesión o suscríbase para acceder a todo el BMJ Best Practice

Inicie sesión para acceder a todo el BMJ Best Practice