Systemic sclerosis (scleroderma)
Summary
Definição
História e exame físico
Principais fatores diagnósticos
- Raynaud phenomenon
- digital pits or ulcers
- swelling of the hands and feet
- skin thickening
- loss of function of hands
- sclerodactyly
- heartburn, reflux, and dysphagia
- bloating
- fecal incontinence
- arthralgias and myalgias
- abnormal nail-fold capillaroscopy
- telangiectasia
- subcutaneous calcinosis
- dyspnea
- dry crackles at lung bases
- tendon friction rub
- abrupt onset moderate/marked hypertension
Outros fatores diagnósticos
- fatigue
- dry cough
- decreased exercise tolerance
- weight loss
- inflammatory arthritis
- proximal muscular weakness (inflammatory myositis)
- synovitis
- increased accentuation of the pulmonic component of S2 heart sound
- signs of anemia
Fatores de risco
- family history of scleroderma
- immune dysregulation (e.g., positive ANA)
- exposure to environmental substances and toxins (e.g., silica dust or solvents)
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- serum autoantibodies
- CBC
- BUN and serum creatinine
- ESR
- CRP
- urine microscopy
- complete pulmonary function tests (spirometry, lung volumes, and diffusing capacity measurement)
- ECG
- echocardiogram
- high-resolution CT scan of chest
- barium swallow
Investigações a serem consideradas
- chest x-ray
- upper gastrointestinal endoscopy ± biopsy
- serum muscle enzymes
- electromyogram/nerve conduction studies
- muscle biopsy
Algoritmo de tratamento
scleroderma renal crisis
cardiac tamponade
Raynaud phenomenon: no ulcers
Raynaud phenomenon: with digital ulcer development
generalized skin involvement
GI involvement
myopathy
synovitis, tendon friction rub, or inflammatory arthritis
interstitial lung disease
pericardial effusion
pulmonary arterial hypertension
Colaboradores
Autores
Maureen D. Mayes, MD, MPH
Professor of Medicine
Division of Rheumatology and Clinical Immunogenetics
University of Texas Health Science Center
Houston Medical School
Houston
TX
Declarações
MDM is an advisory board member for Boehringer-Ingelheim, Galapagos, Corbus, the US Medical and Advisory of Scleroderma Foundation, and Eicos. MDM is on the grant review board for Medtelligence. She receives royalties from Oxford University Press and Henry Stewart Talks, and has been paid for consultancy to the Eicos Advisory Board. MDM is an author of a number of references cited in this topic.
Agradecimentos
Dr Maureen D. Mayes would like to gratefully acknowledge Dr Rajpreet K. Arora-Singh, a previous contributor to this topic. RKA declares that she has no competing interests.
Revisores
Mary Ellen Csuka, MD
Associate Professor of Medicine
Department of Rheumatology
Medical College of Wisconsin
Milwaukee
WI
Declarações
MEC has been reimbursed by: Actelion International (and is a member of its speakers bureau); Encysive Pharmaceuticals; and MediQuest Therapeutics. She is local principal investigator for the SCOT trial, sponsored by NIH.
Jerry Molitor, MD, PhD
Associate Professor
Division of Rheumatic and Autoimmune Diseases
Department of Medicine
University of Minnesota
Minneapolis
MN
Declarações
JM declares that he has no competing interests.
Bridget Griffiths, MD, FRCP(UK)
Consultant Rheumatologist
Department of Rheumatology
Freeman Hospital
Newcastle Upon Tyne
UK
Declarações
BG declares that she has no competing interests.
Ariane L. Herrick, MD, FRCP
Reader in Rheumatology and Consultant Rheumatologist
Musculoskeletal Research Group
University of Manchester
Manchester
UK
Declarações
ALH declares that she has no competing interests.
Créditos aos pareceristas
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Declarações
As afiliações e declarações dos pareceristas referem--se ao momento da revisão.
Referências
Principais artigos
van den Hoogen F, Khanna D, Fransen J, et al. 2013 classification criteria for systemic sclerosis: an American College of Rheumatology/European League Against Rheumatism collaborative initiative. Ann Rheum Dis. 2013 Nov;72(11):1747-55.Texto completo Resumo
Kowal-Bielecka O, Fransen J, Avouac J, et al. Update of EULAR recommendations for the treatment of systemic sclerosis. Ann Rheum Dis. 2017 Aug;76(8):1327-1339.Texto completo Resumo
Baron M, Bernier P, Côté LF, et al. Screening and therapy for malnutrition and related gastro-intestinal disorders in systemic sclerosis: recommendations of a North American expert panel. Clin Exp Rheumatol. 2010 Mar-Apr;28(2 Suppl 58):S42-6.Texto completo Resumo
American College of Rheumatology. 2023 American College of Rheumatology (ACR) guideline for the treatment of interstitial lung disease in people with systemic autoimmune rheumatic disease. Aug 2023 [internet publication].Texto completo
Iudici M, van der Goes MC, Valentini G, et al. Glucocorticoids in systemic sclerosis: weighing the benefits and risks - a systematic review. Clin Exp Rheumatol. 2013 Mar-Apr;31(2 Suppl 76):157-65. Resumo
Johnson SR, Brode SK, Mielniczuk LM, et al. Dual therapy in IPAH and SSc-PAH. A qualitative systematic review. Respir Med. 2012 May;106(5):730-9. Resumo
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
- Primary Raynaud phenomenon
- Localized scleroderma (morphea)
- Mixed connective tissue disease
Mais Diagnósticos diferenciaisDiretrizes
- Guideline for the treatment of interstitial lung disease in people with systemic autoimmune rheumatic disease
- Treatment of systemic sclerosis - associated interstitial lung disease
Mais Diretrizes
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