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AB0647 Diagnosis of systemic sclerosis – “a tangled story”
  1. L Groseanu1,2,
  2. A Dima1,
  3. T Gudu1,
  4. A Balanescu1,2,
  5. D Predeteanu1,2,
  6. D Opris-Belinski1,2,
  7. I Saulescu1,2,
  8. A Borangiu1,2,
  9. C Constantinescu1,2,
  10. D Mazilu1,2,
  11. MM Negru1,2,
  12. F Berghea1,2,
  13. V Vlad1,
  14. C Cobilinschi2,
  15. M Abobului1,2,
  16. R Ionescu1,2
  1. 1Internal Medicine and Rheumatology, Sf Maria Clinical Hospital
  2. 2Department 5 - Internal Medicine, University of Medicine and Pharmacy Carol Davila, Bucharest, Romania

Abstract

Background Proper diagnosis of scleroderma is often long and difficult, since it is such a rare disease, and one which few doctors or patients are familiar with.

Objectives To establish the interval between the symptoms' onset of systemic sclerosis (SSc) and what type of investigations are performed until the patients reach the final diagnosis of a rheumatologist

Methods This is a cross-sectional study that included randomly selected patients with a a diagnosis of SSc which were evaluated based on a questionnaire about symptoms at onset, specific consults and investigations. Descriptive statistics were used.

Results The study group included 47 patients, of which only 5 were males and 17 from rural areas.The medium age was 53 (14.4) years.

First symptom of onset was Raynaud phenomena 91.3% of the cases, followed by skin changes (56.5%), puffy fingers (52,2%), gastrointestinal and musculoarticular symptoms (23.9% each).

The medium duration between the first symptom and a medical consult was 6 (63.5) months. The first medical consult was done by a internal medicine specialist -38.3%, by a rheumatologist-29.8%, a gastroenterologist-12.8%, a dermatologist-8.5%, a nephrologist and a pneumologist-4.2% and neurologist 2.1%

The first suspected diagnosis was SSc in 14 cases, Raynaud syndrome in 8, connective tissue disease in 5, rheumatoid arthritis in 4, cancer, autoimmune hepatitis, idiopathic pulmonary fibrosis each in 2 cases and none in 10 cases.

The medium number of consults until final diagnosis was 3.4 (1.7). The medium duration from the first symptom until the correct diagnosis was 39.2 (74) months.

The first investigations recommended were blood tests in almost all of the patients (95.7%), but only a third of them included specific scleroderma autoantibodies. Capillaroscopy was performed as an initial diagnostic test in only 6 patients (12.8%). The mean interval from disease onset until the patient was referred to the first capillaroscopy was 13.5 (28.8) months, to specific autoantibodies was 40.17 (61.3) month, to echocardiography was 36.38 (54) months, to lung function tests and lung CT – 41.76 (65.8) months.

There were no significant statistical differences between patients coming from rural environment and those coming from urban environment. The only significant statistical difference between diffuse and limited subset was the time the patient was referred to echocardiography (19.8 (47.6) months for the diffuse subset, 66.8 (94.6) months for the limited subset, p=0.04).

The only statistical difference between males and females was related to the interval that capillaroscopy was performed (14 (20.5)months in females, 4.8 (5) months in males, p=0.02).

Conclusions Scleroderma is a less well-known disease. This lack of awareness contributes to delayed diagnosis and delayed onset of therapy. Often such diagnostic uncertainty and frustration takes a huge toll on the psychological well-being of these patients, who describe their journey to diagnosis as being one of the most difficult part of their illness. One of our missions as rheumatologist is to increase recognition of this disorder.

Disclosure of Interest None declared

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