Autopsy versus clinical findings in patients with systemic sclerosis in a case series from patients of the EUSTAR database.
OBJECTIVE
Subclinical organ pathology occurs regularly in systemic sclerosis (SSc) and affects correct prognosis as well as treatment choices. We aimed to evaluate autopsy data for organ involvement with subsequent correlation to clinical data in order to assess discrepancies in pathological and clinical findings in SSc.


METHODS
A standardised autopsy questionnaire from diseased patients registered in the European Scleroderma Trials and Research group (EUSTAR) cohort was analysed on cause of death and various manifestations in different organ systems. Clinical data obtained from the EUSTAR database of the corresponding patients including cause of death and disease manifestations of lung, heart, kidney, gastrointestinal, skin or musculoskeletal organ involvement were retrospectively analysed and compared to autopsy data.


RESULTS
11 patients (6 women, 5 male) aged between 23 and 84 were included. Cause of death defined by pathologist and clinician were identical in 9/11 cases. In 8 individuals, cause of death was related to heart and lung pathologies. Heart and lung involvement (both 10/11) were the most frequently detected organ involvement at autopsy. Here, myocardial fibrosis occurred in 66% and lung fibrosis in 50% of the patients. Clinically, diastolic function abnormalities (6/11), conduction block (4/11), reduced DCLO (6/11) and dyspnea (8/11) were the most prevalent cardiopulmonary findings. For heart and renal involvement we found higher prevalence in autopsy than by clinical diagnosis. Especially myocardial fibrosis and renal arteriosclerosis were only obtained by autopsy in several individuals.


CONCLUSIONS
Clinical diagnostic procedures are limited in detection of end-organ damage, especially for cardiac involvement. All the more post mortem examinations are needed for quality verification of clinical diagnosis and might help as to better understand the disease processes as well as to improve patient care.
Department of Rheumatology, University Hospital Basel, Switzerland.
Bettina
B
Sandmeier
Department of Rheumatology, University Hospital Basel, Switzerland.
Veronika K
VK
Jäger
Department of Rheumatology and Immunology, University of Pécs, Hungary.
Gabriella
G
Nagy
Servicio de Reumatologia, Hospital Universitario 12 de Octubre, Madrid, Spain.
Patricia E
PE
Carreira
Institute of Pathology, University Hospital Basel, Switzerland.
Alexandar
A
Tzankov
Department of Internal Medicine and Rheumatology, Medical University of Silesia, Katowice, Poland.
Malgorzata
M
Widuchowska
Division of Rheumatology, University Hospital Zurich, Zurich, Switzerland.
Milos
M
Antic
Division of Rheumatology, University Hospital Zurich, Zurich, Switzerland.
Oliver
O
Distler
Department of Internal Medicine 3, University of Erlangen-Nuremberg, Germany.
Helena
H
Reichert
Department of Internal Medicine 3, University of Erlangen-Nuremberg, Germany.
Jörg H W
JH
Distler
Department of Rheumatology, University Hospital Basel, Switzerland.
Ulrich A
UA
Walker
Department of Rheumatology, University Hospital Basel, Switzerland. thomas.huegle@unibas.ch.
Thomas
T
Hügle
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001344:Autopsy; D002423:Cause of Death; D016208:Databases, Factual; D018450:Disease Progression; D005060:Europe / Q000453:epidemiology; D005260:Female; D041981:Gastrointestinal Tract / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000473:pathology; D008168:Lung / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009141:Musculoskeletal System / Q000473:pathology; D009206:Myocardium / Q000473:pathology; D011237:Predictive Value of Tests; D015995:Prevalence; D012189:Retrospective Studies; D012595:Scleroderma, Systemic / Q000150:complications / Q000175:diagnosis* / Q000401:mortality / Q000473:pathology; D011795:Surveys and Questionnaires; D055815:Young Adult