Ischemic digital ulcers affect hand disability and pain in systemic sclerosis.

OBJECTIVE: Ischemic digital ulcers (DU) are frequent and severe complications of systemic sclerosis (SSc). The purpose of our study was to assess the effect of DU on hand disability and pain in patients with SSc. METHODS: The Evaluation of the Impact of Recurrent Ischemic DU on Hand Disability in Patients with SSc (ECLIPSE) is a prospective, multicenter, noninterventional study with a 2-year followup. Patients with SSc who experienced at least 1 DU in the previous year and received bosentan therapy were included between October 2009 and March 2011. This cohort is described at the time of inclusion. RESULTS: There were 190 patients (132 females) from 53 centers. Mean age ± SD was 43 ± 15 years at SSc diagnosis and 53 ± 15 years at inclusion. In 105 patients (56.2%), DU were the first non-Raynaud symptoms of SSc. The mean time interval between the occurrence of Raynaud phenomenon and the first DU episode was 6.6 ± 9.1 years. The mean numbers of active DU and fingers affected per patient for both hands were 2.3 ± 1.8 and 2.2 ± 1.6, respectively. Presence of active DU at inclusion was significantly associated with pain and impaired hand function: Visual Analog Scale for pain (0 to 10) was 6.2 ± 2.6 versus 2.5 ± 2.4 (p < 0.0001) and Cochin Hand Function Scale for hand disability (0 to 90) was 38 ± 20 versus 25 ± 19 (p < 0.0001), respectively. CONCLUSION: DU represent a major sign of SSc, often affecting multiple fingers and both hands. They are significantly associated with pain and hand disability.

[Fabry disease: proposed guidelines from a French expert group for its diagnosis, treatment and follow-up]. / Maladie de Fabry: propositions d'un groupe d'experts français concernant le diagnostic, le traitement et le suivi des patients.

Fabry disease is a rare and under-recognized disease associated with an altered X-linked gene controlling hydrolase alpha-galactosidase A activity. This mutation impairs the glycosphingolipid metabolism. A multisystemic disease with a highly variable clinical presentation, its principal symptom is acroparesthesia. Manifestations of Fabry disease occur mostly in hemizygous males but also in heterozygous females. Before enzyme replacement therapy was available, life expectancy was about 50 years in men and 70 years in women. Early diagnosis is essential to prevent irreversible organ damage. Diagnosis is based on an assay of alpha-galactosidase A activity in male patients and on genetic analysis in female patients. Prognosis is related principally to three complications: involvement of the central nervous system, kidneys, and heart. Management of Fabry patients should in all cases combine symptomatic therapy and regular clinical, laboratory and morphological follow-up by specialists in genetic metabolic diseases. Enzyme replacement therapy should be considered in all adult male patients and should probably begin early. In adult heterozygous female patients and in children, this treatment should be considered only for patients with severe pain, organ damage, or central nervous system, kidney, or heart involvement. After a proband is identified, a genealogical tree should be used to identify other affected members of the family.

[The interest of a short-lived orientation unit in a department of internal medicine]. / Intérêt d'un secteur d'orientation courte dans un service de médecine interne.

OBJECTIVE: To assess the activity of a short-lived orientation unit (SLO) with 9 beds that only receives patients from the emergency department in whom diagnosis and/or specific treatment must be set-up while awaiting a vacant bed in the appropriate medical department. METHODS: During the 29 months after the creation of the SLO (Feb. 2001 to June 2003), we analysed the parameters supplied every month by the medical computer department: number of patients hospitalized in the SLO, age, gender, principle diagnosis according to the PMSI coded data, duration of hospitalisation, number of deaths, number of releases direct to home, number of transfers to a specialized unit and qualification of the referral units. RESULTS: 1840 patients (mean age: 73 years) were hospitalized in this unit. The most frequent diseases were bronchopneumonia (16%), syncope episode (14%), cerebral stroke (12%), thromboembolic diseases (11%) and heart failure (10%). The mean duration of hospitalization was 3.7 days (less than 48 hours in 46% of cases). In 40% of cases, patients were able to return directly to their homes. In 62% of cases, the patients were referred to a specialised unit within 48 hours. The functioning of the SLO has various specificities (repeated personalised telephone contacts, letters for rapid transfer, difficult co-operation with certain departments...). CONCLUSION: The SLO is useful for patients since it accelerates their adapted management and allows quick transfer to the unit adapted to their pathology, permitting correct adequation between the pathologies of the patients and the competence of the specialised medical unit.