Overlap syndromes

Last reviewed: 28 Feb 2023
Last updated: 02 Nov 2022

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
More key diagnostic factors

Other diagnostic factors

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

Risk factors

  • female sex
  • age 20 to 40 years
  • presence of specific HLA genotypes
More risk factors

Diagnostic investigations

1st investigations 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
More 1st investigations to order

Investigations to consider

  • creatine kinase
  • anti-double-stranded DNA
  • Smith antigen
  • anti-SS-A and anti-SS-B
  • 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
More investigations to consider

Emerging tests

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

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Larry Young, MD

Associate Professor of Medicine

Division of Rheumatology

Miller School of Medicine

University of Miami

Miami

FL

Disclosures

LY has developed educational materials for the Duke University workshop on evidence-based practice and received sponsored travel and hotel accommodations as one of the workshop co-directors.

Carlos Lozada, MD

Associate Professor of Medicine

Division of Rheumatology and Immunology

Miller School of Medicine

University of Miami

Miami

FL

Disclosures

CL declares that he has no competing interests.

Acknowledgements

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

Peer reviewers

Robert Ortmann, MD

Associate Professor and Director

Division of Rheumatology and Immunology

University of Arkansas for Medical Sciences

Little Rock

AR

Disclosures

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.

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