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Dossier Ingles
LIPODISTROPHIA
LIPODISTROPHIES
LIPODISTROPHIE
LIPODYSTROPHIEN
About Us 2
Its actions are directed towards children, young people and adults who suffer from Lipodystrophy and
the problems that stem from it.
AELIP intends to improve the quality of life for people suffering from Lipodystrophy and, in order to do
this, develops and implements directed services for people and families that live with Lipodystrophy
throughout the world.
About Us 3
¿What is Lipodystrophy?
Lipodystrophy is a group of diseases
characterised by the loss of adipose tissue. A
classification can be carried out according to its
etiology, being congenital (or familiar) or
acquired, or according to its anatomical
location, being generalised, partial or localised.
Depending on their causes, they can be
congenital (genetic) or acquired.
• Berardinelli-Seip syndrome
-Subtype II. Celia encephalopathy
• Acquired generalised lipodystrophy (Lawrence
syndrome)
• Partial Family Lipodystrophy
• Dunnigan syndrome
• Barraquer-Simons syndrome
• Candle syndrome
• Hutchinson-Gilford Progeria
• Mandíbulacral dysplasia
• Atypical Progeroid syndromes
• Neonatal Progeroid syndrome
• Néstor-Guillermo Progeroid syndrome
About Us 4
Portfolio of Services
AELIP offers a portfolio of services and activities to improve the quality of live for users and
their families.
SAP
SIOLIP (Psychological Support Service) SAJ
(Service for Information and (Legal Advice Service)
Guidance on Lipodystrophy) This service is delivered
Provides information and online or in person and aims Intended to promote the defence of
guidance on how to deal with the to alleviate emotional the rights of people affected by
disease for relatives and people suffering, promote skills that lipodystrophy.
diagnosed with a rare type of allow an incresase in self-
lipodystrophy. esteem, and support the
management of personal
difficultuies and feelings of
social rejection.
RESEARCH
(Support for Different
AVAILABLE SERVICES Research Paths)
Support and promotion of
research paths into lipodystrophy
RAISING
AWARENESS SAS
(Actions to make the reality (Service for Sexual Advice)
of lipodystrophy known) This service will work to resolve
TRAINING
AELIP considers it necessary anxieties, doubts, worries, or
to take actions to increase difficulties effectively, by means of
public knowledge and and a brief intervention to avoid
give greater visibility to (Lipodystrophy Training pathologizing situations with
lipodystrophy as a set of rare Service) sensible resolutions. Through the
diseases. The association is consultation, the person or
developing different Training for professionals, partners will be guided so that they
campaigns that aim to students and families about will find their own keys to success
increase public awareness basic and specific actions of
and raise the problem’s lipodystrophy.
profile.
About Us 6
Family Respite
A service intended to offer a meeting point for families and patients, composed of recreational activities, art, sports, etc., in
which the patients can participate as they wish.
Volunteering
This is an essential, vivid and important
part of our association.
Our team of volunteers covers different ages and profiles: high
school students, university students, and professionals of
various backgrounds
Thanks to them, it’s possible for AELIP to carry out the
activities in its annual work plan.
About Us 7
International Symposium
The International Symposium on
Lipodystrophy is a space dedicated to
lipodystrophy in which AELIP acts as a
link to bring together the patients, family,
medical professionals and researchers
in the field. The symposium aims to
analyse the latest advances, share
experiences, promote methods of
financing, improve the quality of life for
people affected and their families, and
find new professionals working in the
field.
Since the Symposium, the people
affected and their families feel more
hopeful about the advances in research.
This hope is augmented by the
improvement brought about by leptin
treatments for lipodystrophy cases.
OBJECTIVES
To create opportunities for exchange and
mutual support between relatives and
parents of children with lipodystrophy. To
improve the quality of life for poeple that
live with lipodystrophy. To promote
research in the full scope of the field of
lipodystrophy.
About Us
Initiatives
World Lipodystrophy Day (March 31st)
Initiatives
Personalities supporting our cause
Visability Campaigns 11
Initiatives
“Let’s score a goal against rare diseases”
A wide awareness campaign with the support of iconic football figures. In the campaign, the "ball of
solidarity," a ball marketed to raise money to fund research into this type of rare disease, is
promoted.
The campaign is supported by football coach Vicente del Bosque and player Andrés Iniesta, whose
signatures are printed on each ball. The ball is decorated with the hands of the children of the
associations involved: AELIP and D´Genes.
The proposal is for a minimum of 5 years, with each year featuring a ball with a new design.
Visibility Campaigns 12
Initiatives
Recycling in Solidarity
Initiatives
GalaPremios AELIP
GalaPremios AELIP is an
annual gala, the main
objectives of which are to
raise awareness of the
problems of lipodystrophy and
to raise funds. Here people
and families affected, health
professionals and people
aware of the problem of
lipodystrophy who want to
collaborate come together.
During the gala celebration,
there are many activities,
such as a meal and an award
ceremony, which is put on to
give recognition to and show
gratitude for distinguished
organizations, companies or
individuals who collaborate
with us to help AELIP improve
the quality of life for patients
and their families, and help
spread awareness of the
needs and demands of the
people affected who need all
of our support.
Awards are given in the
categories of citizen
involvement, solidarity work,
volunteering, research,
institutional support, media,
educational centres,
corporate solidarity, sports
club solidarity and mention of
World Day for Lipodystrophy.
Visibility Activities 14
AELIP is an international association and, therefore, works in various areas that allow us to develop an international
network composed of physicians and socio-sanitary professionals to consult both people who suffer from a
lipodystrophy and their families worldwide
Currently, the AELIP website has its own domains in Spain, Portugal, Germany, France and the United Kingdom.
DELEGATIONS
In addition, AELIP has several delegations in Spain such as those already established in Huelva, Menorca, Vigo and
Murcia.
Internationally, we work to consolidate delegations in Europe that, together with the current ones as in the case of
Chile, Venezuela, Brazil, Peru and Portugal, allow us to establish ourselves throughout the world.
International Delegations
Celia’s Encephalopathy
The congenital lipodystrophy Berardinelli-Seip syndrome is the
result of an alteration in the gene BSCL2, but in the case of
Celia’s Encephalopathy, doctors have discovered that the
mutation is different from the one usually described and is also
present in the genes of both the father and the mother.
"The alteration is harmful to the central nervous system and
ends in an encephalopathy," explains the endocrinologist David
Araujo, of the Faculty of Medicine at Santiago de Compostela.
Araujo has embarked, together with the genetics unit of the
Arrixaca directed by Encarnación Guillén, on an investigation
to try to clarify why four other cases of Berardinelli-Seip Synd-
rome have been diagnosed in the region, thus meaning a high
incidence rate, and why two deceased patients also suffered,
like Celia, from a neurodegenerative process.
capital.com.pe/mundo/espana-conoce-la-enferme-
elmundo.es/salud/2016/04/26/571e48a9ca4741f3508b463a.html dad-con-solo-6-casos-en-el-mundo-noticia-969013
Communications 21
IMPACT IN THE MEDIA
Celia’s Encephalopathy
publico.es/ciencias/encefalopatia-celia-sindrome-
degenerativo-infantil.html
capital.com.pe/mundo/espana-conoce-la-enferme-
dad-con-solo-6-casos-en-el-mundo-noticia-
9690laopinion.com/tema/encefalopatia-de-celia/
lavozdegalicia.es/noticia/salud/2016/03/13/
lacronicadelpajarito.es/region/enfermedad-rara- avanzar-red-vencer-enfermedades-raras/0003_
que-unicamente-se-oculta-region-murcia 201603G13P38991.
bbc.com/mundo/noticias/2016/06/160602_celia_ infosalus.com/asistencia/noticia-encefalopatia-ce-
encefalopatia_enfermedad_nina_salud_espana_ac lia-nueva-enfermedad-rara-solo-descrita-murcia-
20160627125454
Communications 22
Support AELIP
With your collaboration, many
people have a new day
Every action counts and AELIP allows you to
help people and families who live with
lipodystrophy anywhere in the world. The
collaboration of individuals, companies and
institutions that support our cause, concerns
and projects, allows AELIP to develop the
described service portfolio.