Leitsymptome und Leitbefunde der systemischen Sklerose

Zusammenfassung

Die systemische Sklerose (SSc) ist eine seltene autoimmune Systemerkrankung mit komplexer Pathogenese, die durch das Zusammenspiel von Vaskulopathie, Inflammation, Autoimmunität und Fibrose geprägt ist. Trotz großer Fortschritte der Diagnostik und Therapie kann die SSc eine erhebliche Krankheitslast sowie eine erhöhte Mortalität der Betroffenen verursachen. Zu den Leitsymptomen zählen vor allem die Dermatosklerose und das Raynaud-Syndrom. Häufig lässt sich die Verdachtsdiagnose bereits durch eine ausführliche Anamnese und eine sorgfältige körperliche Untersuchung stellen. Wegweisende Befunde wie Hautveränderungen, Mikrostomie, Zungenbandsklerose und vaskuläre Manifestationen (z. B. digitale Ulzera) spielen dabei eine zentrale Rolle. Angesichts der potenziellen Krankheitsprogression und der Vielzahl möglicher Organmanifestationen (mukokutan, kardiopulmonal, gastrointestinal, muskuloskelettal, renal) sind ein frühzeitiges Screening und eine regelmäßige Überwachung unerlässlich. Ein interdisziplinärer Therapieansatz, der auf die Kontrolle von Inflammation, die Hemmung der Fibrose und die Verbesserung der Perfusion abzielt, ist von entscheidender Bedeutung. Ziel ist es, Organbeteiligungen zu minimieren, die Lebensqualität der Patienten zu steigern und die Sterblichkeit zu senken.

Schlüsselwörter

Dermatosklerose - interstitielle Lungenerkrankung - Kollagenose - Raynaud-Syndrom - systemische Sklerose

Publication History

Article published online:
02 June 2025

• Literatur

• 1 Volkmann ER, Andréasson K, Smith V. Systemic sclerosis. Lancet 2023; 401: 304-318
• 2 Albrecht K, Binder S, Minden K. et al. Systematisches Review zur Schätzung der Prävalenz entzündlich rheumatischer Erkrankungen in Deutschland. Z Rheumatol 2023; 82: 727-738
• 3 Denton CP, Khanna D. Systemic sclerosis. Lancet 2017; 390: 1685-1699
• 4 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; 72: 1747-1755
• 5 LeRoy EC, Black C, Fleischmajer R. et al. Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J Rheumatol 1988; 15: 202-205
• 6 Volkmann ER, Fischer A. Update on morbidity and mortality in systemic sclerosis-related interstitial lung disease. J Scleroderma Relat Disord 2021; 6: 11-20
• 7 Bruni C, Ross L. Cardiac involvement in systemic sclerosis: Getting to the heart of the matter. Best Pract Res Clin Rheumatol 2021; 35: 101668
• 8 Raynaud M. Selected monographs: Raynaud’s two essays on local asphyxia of the extremities. London: The New Sydenham Society; 1888
• 9 Haque A, Hughes M. Raynaud’s phenomenon. Clin Med (Lond) 2020; 20: 580-587
• 10 Walker UA, Tyndall A, Czirják L. et al. Clinical risk assessment of organ manifestations in systemic sclerosis: a report from the EULAR Scleroderma Trials And Research group database. Ann Rheum Dis 2007; 66: 754-763
• 11 Pauling JD, Saketkoo LA, Matucci-Cerinic M. et al. The patient experience of Raynaud’s phenomenon in systemic sclerosis. Rheumatology (Oxford) 2019; 58: 18-26
• 12 Freedman RR, Ianni P. Role of cold and emotional stress in Raynaud’s disease and scleroderma. Br Med J (Clin Res Ed) 1983; 287: 1499-1502
• 13 Cutolo M, Sulli A, Pizzorni C. et al. Nailfold videocapillaroscopy assessment of microvascular damage in systemic sclerosis. J Rheumatol 2000; 27: 155-160
• 14 Smith V, Riccieri V, Pizzorni C. et al. Nailfold capillaroscopy for prediction of novel future severe organ involvement in systemic sclerosis. J Rheumatol 2013; 40: 2023-2028
• 15 Tyndall AJ, Bannert B, Vonk M. et al. Causes and risk factors for death in systemic sclerosis: a study from the EULAR Scleroderma Trials and Research (EUSTAR) database. Ann Rheum Dis 2010; 69: 1809-1815
• 16 Sankar S, Habib M, Jaafar S. et al. Hospitalizations related to systemic sclerosis and the impact of interstitial lung disease. Analysis of patients hospitalized at the University of Michigan, USA. Clin Exp Rheumatol 2021; 39 (Suppl. 131) 43-51
• 17 Moinzadeh P, Bonella F, Oberste M. et al. Impact of systemic sclerosis-associated interstitial lung disease with and without pulmonary hypertension on survival: a large cohort study of the German Network for Systemic Sclerosis. Chest 2024; 165: 132-145
• 18 Lescoat A, Huscher D, Schoof N. et al. Systemic sclerosis-associated interstitial lung disease in the EUSTAR database: analysis by region. Rheumatology (Oxford) 2023; 62: 2178-2188
• 19 Hoffmann-Vold AM, Allanore Y, Alves M. et al. Progressive interstitial lung disease in patients with systemic sclerosis-associated interstitial lung disease in the EUSTAR database. Ann Rheum Dis 2021; 80: 219-227
• 20 Makol A, Nagaraja V, Amadi C. et al. Recent innovations in the screening and diagnosis of systemic sclerosis-associated interstitial lung disease. Expert Rev Clin Immunol 2023; 19: 613-626
• 21 Suliman YA, Dobrota R, Huscher D. et al. Brief Report: Pulmonary function tests: high rate of false-negative results in the early detection and screening of scleroderma-related interstitial lung disease. Arthritis Rheumatol 2015; 67: 3256-3261
• 22 Bruni C, Chung L, Hoffmann-Vold AM. et al. High-resolution computed tomography of the chest for the screening, re-screening and follow-up of systemic sclerosis-associated interstitial lung disease: a EUSTAR-SCTC survey. Clin Exp Rheumatol 2022; 40: 1951-1955
• 23 Khanna D, Distler O, Cottin V. et al. Diagnosis and monitoring of systemic sclerosis-associated interstitial lung disease using high-resolution computed tomography. J Scleroderma Relat Disord 2022; 7: 168-178
• 24 Ramahi A, Lescoat A, Roofeh D. et al. Risk factors for lung function decline in systemic sclerosis-associated interstitial lung disease in a large single-centre cohort. Rheumatology (Oxford) 2023; 62: 2501-2509
• 25 Man A, Davidyock T, Ferguson LT. et al. Changes in forced vital capacity over time in systemic sclerosis: application of group-based trajectory modelling. Rheumatology (Oxford) 2015; 54: 1464-1471
• 26 Volkmann ER, McMahan Z. Gastrointestinal involvement in systemic sclerosis: pathogenesis, assessment and treatment. Curr Opin Rheumatol 2022; 34: 328-336
• 27 Luquez-Mindiola A, Atuesta AJ, Gómez-Aldana AJ. Gastrointestinal manifestations of systemic sclerosis: An updated review. World J Clin Cases 2021; 9: 6201-6217
• 28 Shreiner AB, Murray C, Denton C. et al. Gastrointestinal manifestations of systemic sclerosis. J Scleroderma Relat Disord 2016; 1: 247-256
• 29 Marie I, Gourcerol G, Leroi A. et al. Delayed gastric emptying determined using the 13C–octanoic acid breath test in patients with systemic sclerosis. Arthritis Rheum 2012; 64: 2346-2355
• 30 McMahan ZH, Volkmann ER. An update on the pharmacotherapeutic options and treatment strategies for systemic sclerosis. Expert Opin Pharmacother 2020; 21: 2041-2056
• 31 Morrisroe K, Hansen D, Stevens W. et al. Gastric antral vascular ectasia in systemic sclerosis: a study of its epidemiology, disease characteristics and impact on survival. Arthritis Res Ther 2022; 24: 103
• 32 Efremova I, Maslennikov R, Poluektova E. et al. Epidemiology of small intestinal bacterial overgrowth. World J Gastroenterol 2023; 29: 3400-3421
• 33 Sakkas LI, Simopoulou T, Daoussis D. et al. Intestinal involvement in systemic sclerosis: a clinical review. Dig Dis Sci 2018; 63: 834-844
• 34 Martín Domínguez V, Malagelada C, Santander C. Small intestinal bacterial overgrowth. A position paper of ASENEM-SEPD. Rev Esp Enferm Dig 2023; 115: 679-681
• 35 Nassar M, Ghernautan V, Nso N. et al. Gastrointestinal involvement in systemic sclerosis: An updated review. Medicine (Baltimore) 2022; 101: e31780
• 36 Hinton JM, Lennard-Jones JE, Young AC. A new method for studying gut transit times using radioopaque markers. Gut 1969; 10: 842-847
• 37 Richard N, Hudson M, Gyger G. et al. Clinical correlates of faecal incontinence in systemic sclerosis: Identifying therapeutic avenues. Rheumatology (Oxford) 2017; 56: 581-588
• 38 Thoua NM, Schizas A, Forbes A. et al. Internal anal sphincter atrophy in patients with systemic sclerosis. Rheumatology (Oxford) 2011; 50: 1596-1602
• 39 Lóránd V, Czirják L, Minier T. Musculoskeletal involvement in systemic sclerosis. Presse Med 2014; 43: e315-328
• 40 Baron M, Lee P, Keystone EC. The articular manifestations of progressive systemic sclerosis (scleroderma). Ann Rheum Dis 1982; 41: 147-152
• 41 Kayser C, Victória de Oliveira Martins L. Treatment of inflammatory arthritis in systemic sclerosis. Rheum Dis Clin North Am 2023; 49: 337-343
• 42 Blank RB, Nwawka OK, Yusov AA. et al. Inflammatory arthritis in systemic sclerosis: What to do?. J Scleroderma Relat Disord 2019; 4: 3-16
• 43 Wielosz E, Hyła MG. Musculoskeletal involvement in systemic sclerosis. Rheumatologia 2024; 62: 274-281
• 44 Elhai M, Guerini H, Bazeli R. et al. Ultrasonographic hand features in systemic sclerosis and correlates with clinical, biologic, and radiographic findings. Arthritis Care Res (Hoboken) 2012; 64: 1244-1249
• 45 Fairchild R, Horomanski A, Sharpless L. et al. Ultrasound evaluation of the hands and wrists in patients with systemic sclerosis: Osteophytosis is a major contributor to tender joints. Semin Arthritis Rheum 2021; 51: 735-740
• 46 Farrant JM, O’Connor PJ, Grainger AJ. Advanced imaging in rheumatoid arthritis: Part 1: Synovitis. Skeletal Radiol 2007; 36: 269-279
• 47 Feldmann D, Jandova I, Heilmeier U. et al. Inflammatory arthritis in systemic sclerosis is associated with elevated C-reactive protein and requires musculoskeletal ultrasound for reliable detection. Front Med (Lausanne) 2023; 9: 933809
• 48 Abdel-Magied RA, Lotfi A, Abdelgawad EA. Magnetic resonance imaging versus musculoskeletal ultrasonography in detecting inflammatory arthropathy in systemic sclerosis patients with hand arthralgia. Rheumatol Int 2013; 33: 1961-1966
• 49 Low AHL, Lax M, Johnson SR. et al. Magnetic resonance imaging of the hand in systemic sclerosis. J Rheumatol 2009; 36: 961-964
• 50 Wielosz E, Majdan M, Dryglewska M. et al. Anti-CCP antibodies and rheumatoid factor in systemic sclerosis: Prevalence and relationships with joint manifestations. Adv Clin Exp Med 2018; 27: 1253-1257
• 51 Kamalaksha S, White DHN, Solanki KK. Significance of combined anti-CCP antibodies and rheumatoid factor in a New Zealand cohort of patients with systemic sclerosis. Int J Rheum Dis 2018; 21: 1430-1435
• 52 Khanna D, Denton CP, Jahreis A. et al. Safety and efficacy of subcutaneous tocilizumab in adults with systemic sclerosis (faSScinate): a phase 2, randomised, controlled trial. Lancet 2016; 387: 2630-2640
• 53 Del Galdo F, Lescoat A, Conaghan PG. et al. EULAR recommendations for the treatment of systemic sclerosis: 2023 update. Ann Rheum Dis 2025; 84: 29-40
• 54 Fernández-Codina A, Walker KM, Pope JE. Treatment algorithms for systemic sclerosis according to experts. Arthritis Rheumatol 2018; 70: 1820-1828
• 55 Parodis I, Girard-Guyonvarc’h C, Arnaud L. et al. EULAR recommendations for the non-pharmacological management of systemic lupus erythematosus and systemic sclerosis. Ann Rheum Dis 2024; 83: 720-729