Analysis of needs and expectations of patients with ichthyosis:
national survey using a questionnaire
The purpose of this questionnaire was to highlight the management of problems of patients with ichthyosis and collect their expectations. This type of survey has never been conducted beforehand.
Reference center for rare diseases Toulouse skin initiated and coordinated this action. For this, a questionnaire was developed in collaboration with the Association of ANIPS patients ( National Association of Ichthyosis and Dry Skin Pathology) and the French Research Group Pediatric Dermatology.
The questionnaire collected data on patient care (medical care, therapeutic, psychological and social), working life, life in school and the quality of life (using a questionnaire called DLQI, for which there is an adult version and versions 2 children, age-appropriate (for 4-10 years and 11-15 years).
Questionnaires were sent to both members of the ANIPS and patients followed in different French hospital Dermatology. Therefore participated in the work of the Dermatology Service Bordeaux, Dijon, Marseille, Montpellier, Nancy, Nantes, Nice, Paris (Hôpital Saint-Louis), Rennes, Toulouse and Tours.
This questionnaire was sent between 04/01/10 and 31/05/10 492 patients (262 ANIPS members and 230 patients followed in the CHU). 234 patients answered, a very good response rate of 47.6%. Patients who responded were adults in 73% of cases (171 adults) and children in 27% of cases (63 children). The results of adults and children are presented below.
Results for adults:
- Age : The average age of patients was 39.5 years, there were 77 men and 94 women (Ratio Women / Men: 1,2).
- Family situation : 24% of patients lived alone and 61% had no children.
- Work : 51% of patients were in operation. 28% felt their ichthyosis had hampered the search for a job.
- Medical follow-up : patients were followed for their ichthyosis by a general practitioner in 53% of cases, hospital dermatologist in 49% of cases and a city dermatologist in 30% of cases. 11% had no medical care. 30% had been seen in a reference / Competence Center. 61% did not know the existence of reference / Competence Centres.
- Regarding diagnosis : 76% did not have molecular diagnostics (genetic analysis).
- Treatment : 94% had a treatment cream, 27% of tablet treatment, 4.2% had no treatment.
- Social Support : 30% were unaware of topical reimbursed. 52% were not supported 100% by health insurance. The most commonly perceived benefit was disabled adults allowance (involved 13.5% of patients).
- Information : 71% felt they did not have enough information about their disease and 90% wanted to know more. 80% looked for information on the internet in 43% of cases, with their doctor in 29% of cases, with associations in 22% of cases. 28% felt their doctor did not have enough information about the disease.
- Constraints related to the disease : 36% spend more than 30 min / day to apply the local treatment. 72% felt they had more housework because of ichthyosis, 50% felt more wear their clothes. 39% said they spend more than 500 € / year for their disease and 15.2% over 1000 €.
- Quality of life : Quality of life can be defined as the satisfaction felt by a person in different areas of his life. It allows to best describe how a person lives with the disease every day. The quality of life scale DLQI explores six areas of quality of life, symptoms and feelings, daily activities, leisure, work, personal relationships, and treatment.
This study showed an impaired quality of life of patients with ichthyosis (mean DLQI score of 8.3 / 30) with an impact that can be considered very important (DLQI scores> 10) for nearly a thirds (31% or 49 patients). The areas of quality of life most affected concerned the dress choice imposed by the disease, itching and pain of the skin, vis-à-vis the other complex and physical gene and the daily constraints treatment of the disease. The impairment of quality of life seemed to be correlated to the importance of physical symptoms (redness and scales) and functional (scraping, ocular discomfort, skin pain). In addition, female gender and social isolation seemed to predispose to greater impairment of quality of life of the patient.
- Age : The average age of 8.35 years, there were 34 boys and 29 girls (ratio Girl / Boy: 0.85).
- Medical follow-up : The children were monitored by a dermatologist hospital in 53% of cases by a general practitioner in 45% of cases, a pediatrician in 31% of cases or a liberal dermatologist in 26% of cases. 8% had no follow-up.
- Treatment : 100% used treatment cream and 29% one tablet treatment.
- Social Support : 36% had no care at 100%. 50% were receiving a disabled child education allowance and 16.7% of non-statutory benefits.
- Constraints related to the disease : 38% of families spent more than 30 min / day to apply topical. Ichthyosis influenced the choice of clothes / shoes in 73% of cases. 67% of families felt ichthyosis occasioned more housework and 87.3% that it was causing specific expenditures (> 1000 € / year in 20% of cases).
- School : for school children, 51% of parents considered school results were affected by the disease. 43.4% had a particular measure, mainly type of individual reception protocol (PAI in 41% of cases). The children felt abandoned during the formation of groups in 48% of cases and were not invited to birthday in 54% of cases. 76% considered ichthyosis bothered them in the sport. 23% did not go to the pool because of discomfort (it was mostly teenagers) and 12% were forbidden pool.
- Quality of life : This study showed an impaired quality of life in both the 4-10 years (mean DLQI score of 5.27 / 30) and in 11 to 15 years (mean DLQI score of 5.7 / thirty). Children aged 4 to 10 years were mostly bothered by itching and skin pain as well as by the constraints related to treatment. The 11 to 15 years reported a quality of life mainly affected by itching and skin pain as well as physical gene vis-à-vis the other.
Conclusions of this national survey:
These results show a significant impact of ichthyosis the lives of everyday, school and work.
This survey also show the actions that will be set up:
Better inform patients and their doctors about the disease, with priority given to information on social rights.
Better support vis-à-vis patients to difficulties in work, everyday life, school.
Accompany patients to achieve the social procedures, better interact with the MDPH (departmental home of the disabled).
Help families in their difficulties at school, better interact with the school or the education authority
Establish therapeutic education
Work to maintain the repayment of emollients
Better work with community physicians (general practitioners and dermatologists) and other health professionals
Raising public awareness in ichthyosis and difficulties
Continue research in particular to the search for treatments
Pr Juliette MAZEREEUW - HAUTIER et Isabelle DREYFUS
Diseases Reference Center for Rare skin Toulouse-Bordeaux