Corneal confocal microscopy : a novel noninvasive means to diagnose neuropathy in patients with Fabry disease

ABSTRACT: Neuropathy is a cause of significant disability in patients with Fabry disease, yet its diagnosis is difficult. In this study we compared the novel noninvasive techniques of corneal confocal microscopy (CCM) to quantify small-fiber pathology, and non-contact corneal esthesiometry (NCCA) to quantify loss of corneal sensation, with established tests of neuropathy in patients with Fabry disease. Ten heterozygous females with Fabry disease not on enzyme replacement therapy (ERT), 6 heterozygous females, 6 hemizygous males on ERT, and 14 age-matched, healthy volunteers underwent detailed quantification of neuropathic symptoms, neurological deficits, neurophysiology, quantitative sensory testing (QST), NCCA, and CCM. All patients with Fabry disease had significant neuropathic symptoms and an elevated Mainz score. Peroneal nerve amplitude was reduced in all patients and vibration perception threshold was elevated in both male and female patients on ERT. Cold sensation (CS) threshold was significantly reduced in both male and female patients on ERT (P < 0.02), but warm sensation (WS)and heat-induced pain (HIP) were only significantly increased in males onERT (P<0.01). However, corneal sensation assessed withNCCAwas significantly reduced in female (P < 0.02) and male (P < 0.04) patients on ERT compared with control subjects. According to CCM, corneal nerve fiber and branch density was significantly reduced in female (P < 0.03) and male (P < 0.02) patients on ERT compared with control subjects. Furthermore, the severity of neuropathic symptoms and the neurological component of the Mainz Severity Score Index correlated significantly with QSTand CCM. This study shows that CCM and NCCA provide a novel means to detect early nerve fiber damage and dysfunction, respectively, in patients with Fabry disease.

10,000 steps Rockhampton : (1) building a whole community approach to increasing levels of physical activity

10,000 Steps Rockhampton is a multi-strategy health promotion program which aims to develop sustainable community-based strategies to increase physical activity.The central coordinating focus of the project is the use of pedometers to raise awareness of and provide motivation for physical activity, around the theme of '10,000 steps/day - Every step counts.' To date, five key strategies have been implemented: (1) a media-based awareness raising campaign; (2) promotion of physical activity by health professionals; (3) improving social support for physical activity through group-based programs; (4) working with local council to improve environmental support for physical activity, and; (5) establishment of a ‘micro-grants’ fund to which community groups could apply for assistance with small, innovative physical activity enhancing projects. Strategies were introduced on a rolling basis beginning in February 2002 with 'layering' of interventions designed to address the multi-level individual social and environmental determinants of physical activity. The project was quasi-experimental in design, involving collection of baseline and two year follow-up data from community based surveys in Rockhampton and in a matched regional Queensland town. In August 2001,the baseline CATI survey (N=1281)found that 47.9% of men and 33.0% of women were meeting the national guidelines for physical activity. In August 2002, a smaller survey (N=400) found an increase in activity levels among women (39.7% active) but not in men (48.5%). Data from the two year follow up survey, to be conducted in August 2003, will be presented, with discussion of the major successes and challenges of this landmark physical activity intervention. Acknowledgement: This project is supported by a grant from Health Promotion Queensland.