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Facilitating factors for the quality of life of people living with epidermolysis bullosa and their families, identified by health care professionals and experts

Authors:

Abstract

Epidermolysis bullosa (EB) is a group of rare genetic diseases characterized by skin fragility. As, at least for now, there is no cure for EB yet, quality of life is an extremely important issue. The WHO (World Health Organisation) defines quality of life as "the individual's perception of their position in life, in the context of the culture and value systems in which they live and in relation to their goals, expectations, standards and concerns''. Health-related quality of life can be divided into physical, social, emotional, and functional dimensions. Our research aims to identify facilitating factors to the quality of life of people with EB and their families.
ActaDV ActaDV
Advances in dermatology and venereology Acta Dermato-Venereologica
49Posters
Acta Derm Venereol Suppl 220
train participants in data collection and analysis. To collect routine
hand therapy data with patients, in parallel with current Electronic
Patient Records (EPR), over 12 months. To evaluate the accepta-
bility of the HTO system with clinicians, patients and carers. To
determine the consistency and quality of data recording on the
HTO system compared with EPR data Materials & methods: The
National Institute of Health Research Telehealth Implementation
Toolkit framed the evaluation. Twenty English speaking patients
with EB, undergoing hand therapy intervention, and their carers
were invited to participate (February to November 2019). Mini-
mum data capture to the HTO system was clinically determined
by hand therapists and patients, with reciprocal monitoring by
the therapists. Participants assessed, monitored and recorded
their own outcomes on the HTO system over 10 months. The
system was rened to meet service requirements. Results: Sixteen
participants were recruited with two exclusions (English not rst
language). Fifteen baseline assessments were conducted with one
IT failure preventing completion. Four participants were unable
to complete their assessments remotely, and their data were col-
lected in clinic. Of the remaining 12 participants, seven used the
HTO system remotely, including two receiving post-surgical hand
release. Conclusions: The HTO system facilitates shared patient
and clinician records, with remote capture of objective hand data
and contemporaneous qualitative accounts that have previously not
been collected. It is quick and easy to complete and allows moni-
toring of patients’ hand condition between clinic appointments. All
the data are captured in one place, charting disease progression,
response to treatment care and costs. The system relies on patient
and clinician participation in data capture. The rewards include
improved communication and understanding of how individual’s
situations impact upon hand therapy.
P55
FACILITATING FACTORS FOR THE QUALITY OF
LIFE OF PEOPLE LIVING WITH EPIDERMOLYSIS
BULLOSA AND THEIR FAMILIES, IDENTIFIED BY
HEALTH CARE PROFESSIONALS AND EXPERTS
Gudrun Salamon and Vinzenz Hübl
Sigmund Freud University Vienna, Faculty of Psychology
Introduction & objectives: Epidermolysis bullosa (EB) is a group
of rare genetic diseases characterized by skin fragility. As, at least
for now, there is no cure for EB yet, quality of life is an extremely
important issue. The WHO (World Health Organisation) denes
quality of life as “the individual’s perception of their position
in life, in the context of the culture and value systems in which
they live and in relation to their goals, expectations, standards
and concerns’’. Health-related quality of life can be divided
into physical, social, emotional, and functional dimensions. Our
research aims to identify facilitating factors to the quality of life
of people with EB and their families. Materials & methods: We
chose a grounded theory approach, where experts’ as well as pa-
tients’ and their families’ views will be taken into consideration.
As a rst step, we interviewed ten experts on EB, eight of them
actively involved in EB care (doctors, nurses, psychologists,
social workers, occupational therapists), two of them experts in
rare diseases and community support, one of them furthermore
a parent of a young adult with EB. Results: Facilitating factors
to the quality of life and psychosocial wellbeing are: the highest
possible degree of autonomy, built upon information, knowledge,
and training, and with the help of medical, psychological, social
and nancial support as well as every-day support by home care or
personal assistance; an easy-to-reach support for all needs, using a
multidisciplinary approach, ideally interconnected and exchanging
information amongst each other; being included in a supportive
social network, consisting of a personal network of family and
friends, a social surrounding such as kindergarten, school, or work,
and the exchange with other patients and their families. Chances
that support offers are actually accepted and used by EB patients
and their families are higher with a stable and trustful relation
between the health care professionals, the EB patients and their
families. Building up such a relation needs honesty, the validation
of the patients’ and families’ expertise and experience, and enough
time. For a supportive and clear communication, it is important
to differentiate between hopes and expectations; their alignment
is recommended in order to avoid disappointment. Conclusions:
Quality of life is a central issue for people living with EB. Our
research explores facilitating factors to the quality of life and
psychosocial wellbeing and thus adds a novel point of view to
quality of life research.
P56
IMPROVING SURVIVAL IN EPIDERMOLYSIS
BULLOSA PATIENTS WITH SQUAMOUS CELL
CARCINOMA: LONG-TERM RESULTS FROM A
NATIONAL REFERENCE CENTRE
Carlos Delgado-Miguel, Miriam Miguel-Ferrero, Antonio J.
Muñoz-Serrano,Mercedes Díaz, Rocío Maseda, Raúl de Lucas,
Juan Carlos López-Gutiérre
Introduction & objectives: An intensive protocol for early diag-
nosis of squamous cell carcinoma in patients with epidermolysis
bullosa (EB) was started in our Centre 10 years ago; our aim was
to analyze the results of this new protocol. Materials & methods:
In 2008, we started a new protocol for early diagnosis of epider-
moid carcinoma in EB which included: exhaustive exam of the
entire body surface, performance of biopsies of all skin lesions
suspected of malignancy and early excision of malignant lesions,
PET-scan control of distance dissemination and frequent follow-
up visits. We performed a retrospective study in patients with EB
treated by the Department of Paediatric Surgery at our institution
in the last 20 years (1998-2018) who developed squamous cell
carcinoma. Two time periods 1998-2007 (pre-new protocol) and
2008-2018 (post-new protocol) were analyzed comparatively.
Demographic data (sex and age) and tumor location were col-
lected. The amputation rate and mortality rate of patients treated
before and after the new protocol was introduced were compared.
Results: Fifty-seven patients (28male; 29female) were analyzed.
Fourteen patients developed squamous cell carcinoma (11male;
3female), with a mean age at diagnosis of 22.4
± 5.5years. The
lower limb was the most frequent location (7 on the feet and 4 on
the knees), followed by the cervical region (2 patients) and hand (1
patient). During the rst period of time (1998-2007), 7 squamous
cell carcinomas were diagnosed (5 male; 2 female), with a mean
age at diagnosis of 30.4
± 6.5years. Five patients required limb
amputation (amputation rate: 71%) and 6 of them died due to the
spread of the cancerous disease (mortality rate: 85.7%). During
the second period of time (2008-2018), 7 epidermoid carcinomas
were diagnosed (6male, 1female), with a mean age at diagnosis
of 18.6 ± 3.2years. The difference in the age at diagnosis between
both groups was statistically signicant. The amputation rate in
this group was 42.8% (OR 0,42 CI95% [0,1-4,9]; p = 0,577) and
the mortality rate was 57.1% (OR 0,53 CI95% [0,1-6,1]; p = 0,512).
Although both rates were lower than those of the rst period, no
statistical signicance was observed due to the small sample size.
Conclusions: The introduction of this new intensive protocol,
which relies on the protocolized study and treatment of skin lesions
by a trained multidisciplinary team, promotes an earlier diagnosis
and treatment of epidermoid carcinoma, increasing the quality of
life and lengthening the survival of patients with EB.
Article
Full-text available
The phenotypic presentation of monogenetic diseases is determined not only by the nature of the causative mutations but also is influenced by manifold cellular, microenvironmental, and external factors. Here, heritable extracellular matrix diseases, including dystrophic epidermolysis bullosa (DEB), are no exceptions. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII. Deficiency of collagen VII leads to skin and mucosal fragility, which progresses from skin blistering to severe fibrosis and cancer. Clinical and pre-clinical studies suggest that targeting of secondary disease mechanisms or employment of natural disease modifiers can alleviate DEB severity and progression. However, since many of these mechanisms are needed for tissue homeostasis, informed, selective targeting is essential for safe and efficacious treatment. Here, we discuss a selection of key disease modifiers and modifying processes active in DEB, summarize the still scattered knowledge of them, and reflect on ways forward toward their utilization for symptom-relief or enhancement of curative therapies.
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