Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by ectopic calcifications in the skin, retina and arterial walls. Angers University Hospital is the national rare disease reference center (CRMR) for PXE. Although PXE is hereditary, its main clinical manifestations (unsightly skin lesions, intermittent arterial claudication, stroke, retinal bleeding and blindness) are delayed and slowly progress over the course of a lifetime. They are rarely life-threatening but have a major functional impact. To date, management of PXE is purely preventive and symptomatic. Three successive "states" can be individualized during PXE course, corresponding to three very different patient profiles in terms of age, clinical manifestations, occurrence of complications and their treatment.
PXE is essentially a severe disease in adults in the second half of life. This contrasts with the presence of many patients seen for their follow-up at school age or in employment, and at the age of children. It is therefore necessary to optimize the recruitment of PXE patients and to rethink their follow-up by the CRMR.
The investigators hypothesize that the implementation of alternating treatment paths, better adapted to each of the three patient profiles, including multidisciplinary teleconsultations, will not only increase the number of patients monitored by the CRMR and benefit from referral care, but also to optimize care, for greater patient satisfaction, their local doctors and the CRMR team.
For the main objective and the first secondary objectives : The population taken into account corresponds to all the support and requests managed by the CRMR over the periods of interest (period A1-2 and period A5-6).
by the presence of specific skin lesions (clinically suggestive and showing dermal elastorrhexis on skin biopsy) in patients under 25 years of age
OR by the combination of specific skin lesions (clinically suggestive and showing dermal elastorrhexis on skin biopsy) and specific ophthalmologic lesions, complicated or not (depending on age: orange peel, angioid streaks, retinal dystrophy) over 25 years of age PXE is defined genotypically, regardless of the patient's age, by the identification of two variants in the ABCC6 gene.
Participation in the qualitative study (semi-directed interviews) will be offered to a sample of patients included in the RIPH during the A5-A6 period among patients who were already followed before the A3-A4 period since the objective is to collect their experiences and perceptions of this reorganization of care. Only patients agreeing to participate in this sub-study and giving their consent for the recording of the interviews will be included.
Person objecting to participating in the research
Patient under curatorship, guardianship and legal protection
Patients belonging to the CRMR active cohort will be defined by: * for new patients: patients for whom CRMR care has been provided, i.e. a stay at the CRMR (consultation or hospitalization) or a teleconsultation with the CRMR team) was provided within a maximum of 3 months after an initial contact made during the period of interest * for patients already in the CRMR active file (patients who have benefited from at least one care in the last 5 years): patients for whom the CRMR care provided for the period, i.e. a stay at the CRMR (consultation or hospitalization) or a teleconsultation with the CRMR multidisciplinary team, was provided in accordance with the planned frequency with a tolerance window of 6 months.
Case-only
Other
Pseudoxanthoma Elasticum
Other interventionAnswer to the PSQ-18, patient care confidence score (likert scale) and SF-12 questionaries at each visit, for an estimated duration of 15 minutes.
Evaluation of the impact of alternating pathways adapted to age and clinical symptoms on the number of patients duly followed up
Difference between the number of PXE patients duly followed up over the 2-year period (A5-6), after a period of implementation (2 years) of alternating pathways adapted to age, and the number of PXE patients duly followed up over the 2-year period following the implementation of the study (A1-2).
Optimization of the care pathway by evaluating the impact of alternating pathways adapted to age and clinical symptoms
The number of patients contacted without follow-up: Difference between the number of patients contacted without follow-up: during the period A5-6 and the period A1-2 The number of patients lost to follow-up: Difference between the number of patients lost to follow-up during the period A5-6 and the period A1-2 The time taken to take charge of new patients: Difference between the average time taken to the first effective care (face-to-face consultation, hospitalization or teleconsultation) and the first contact made during the period A1-2 and the period A5-6
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
The percentage of patients followed up with a new serious complication between period A5-6 and period A1-2
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
The number of patients followed up who completed all the necessary and prescribed examinations between period A5-6 and period A1-2
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
The satisfaction score relating to patient care between period A5-6 and period A1-2 using the short version of the PSQ (PSQ-18), a questionnaire regularly used to assess the relevance of telemedicine The PSQ-18 consisted of 18 statements including seven dimensions of satisfaction of medical care measured by : General Satisfaction; Technical Quality; Interpersonal Manner; Communication; Financial Aspects; Time Spent with Doctor; Accessibility and Convenience. Response were given on a five point scale ranging from strongly agree to strongly disagree. High scores reflect satisfaction with medical care
Click on the lead sponsor to view all of their trials.
