Evidence for oesophageal and anorectal involvement in very early systemic sclerosis (VEDOSS): report from a single VEDOSS/EUSTAR centre.

BACKGROUND: The oesophagus is the first gastrointestinal (GI) tract involved in systemic sclerosis (SSc), followed by the anorectum. OBJECTIVE: Evaluation of oesophageal and anorectal involvement and their correlations in patients with very early diagnosis of SSc (VEDOSS). PATIENTS AND METHODS: 59 patients with VEDOSS, evaluated with oesophageal and anorectal manometry and investigated with lung function tests and chest HRCT. Demographic data, oesophageal and anorectal symptoms, Raynaud's phenomenon, autoantibodies, videocapillaroscopy patterns, puffy fingers and digital ulcers were recorded for all patients. RESULTS: In 4 patients oesophageal manometry and in 17 patients anorectal manometry was not performed because of scarce tolerance. Oesophageal peristalsis was absent in 14 patients; its pressure and speed were significantly lower in 41 patients (p<0.001 and p=0.005, respectively). The maximum pressure and mean pressure (Pmax and Pm) of lower oesophageal sphincter were significantly lower (p=0.012 and p=0.024, respectively). Patients with a diffusing capacity of the lung for carbon monoxide<80% presented a hypotonic lower oesophageal sphincter (p=0.008) and an abnormal peristalsis (p<0.001); patients with a diffusing capacity of the lung for carbon monoxide>80% showed only an abnormal peristalsis (<0.001). The anal resting pressure (ARP) at 4.3 cm and 2 cm from anal edge and the anal canal Pm were significantly decreased (p<0.001 and p=0.010, respectively). The maximum voluntary contraction was significantly abnormal in its Pmax and Pm (p=0.017 and p=0.005) and in its duration (p=0.001). In patients with a positive HRCT, the ARP and the canal Pmax and Pm were significantly lower; patients with negative HRCT presented only an abnormal ARP. CONCLUSIONS: In patients with VEDOSS, oesophageal and anorectal disorders are frequently detected, showing that very early SSc is characterised by GI involvement.

Transitional connective tissue diseases: description of four cases.

UNLABELLED: The term overlap syndromes (OS) is used to define a group of disorders characterized by the presence, in the same patient, of clinical features typical for more than one definite connective tissue disease (CTD). OBJECTIVE: To show that patients may not only have an overlap of two or more CTDs but may also change their disease phenotype from that of a definite CTD to another. PATIENTS AND METHODS: Retrospective analysis of medical records of four patients with a disease duration of about thirty years and a transition from a well definite CTD into another. RESULTS: The first patient was diagnosed, at the beginning of the 1980s, as affected by diffuse cutaneous systemic sclerosis (dcSSc) and developed systemic lupus erythematosus (SLE) twenty-five years later. The second and the third patients were diagnosed with SLE at the beginning of their disease: the second patient developed, in the course of her disease, an overlap syndrome (OS) SSc/rheumatoid arthritis (RA) and the third SSc and finally microscopic polyangiitis (MPA). The fourth patient was diagnosed as primary Sjogren's syndrome (SS) then as rheumatoid arthritis (RA) and finally developed SLE. CONCLUSIONS: Patients may not only show an overlap of two or more CTDs but also a transition from a well definite CTD into another. We propose the term "transitional connective tissue diseases" (TCTDs) to define their disease. A higher number of patients may allow us to better identify this new subgroup of CTDs and probably, also, predictors of evolution.