Since 2012, year in which the International Association of Families and People Affected by Lipodystrophy (AELIP) was founded, research has been, is and will be one of the priorities in the lines of action of our entity, which since its birth, understood that without research there was no future for people affected by Lipodystrophy. AELIP's priority is to develop an area of action and research that will improve the quality of life of people with lipodystrophy.
In this sense, our association supports different lines of research that are being developed at the University Hospital of Santiago de Compostela and the La Paz Hospital in Madrid.
Research is the only hope for people and families who live with a lipodystrophy in the world, as we have reiterated on numerous occasions since our inception, but our commitment goes much further to claim and promote governments to invest more economic resources in research, but from AELIP we support economically the two lines of research in lipodystrophies that currently exist in Spain.
In Spain, there is a Clinical Reference Centre officially recognized by the Ministry of Health on lipodystrophies. The University Clinical Hospital of Santiago de Compostela, and in particular, its Endocrinology and Nutrition Service
Currently, it is the only center with experience in the diagnosis and treatment of rare forms of lipodystrophy. This Lipodystrophy Unit is directed by Prof. David Araújo-Vilar, and has the professionals and equipment necessary for clinical evaluation, molecular diagnosis and specific treatment for this type of disorders.
Simultaneously with the medical activity, Dr. Araújo directs the Thyroid and Metabolic Diseases Unit (UETeM or its acronym in Spanish) of the Department of Medicine of the University of Santiago de Compostela, which currently focuses its research lines in the field of lipodystrophies, particularly, in the study of the molecular basis of the Berardinelli-Seip Syndrome (especially in the forms associated with neurodegeneration) and Familial Partial Lipodystrophy, and researching for new therapeutic strategies
Parallel to this Unit, the Hospital de La Paz in Madrid, is developing another Line of Research whose main figures are Margarita Lopez Trascasa (Principal Researcher) and Fernando Corvillo Rodriguez (Pre-doctoral Researcher) from which they are developing various studies related to Lipodystrophies
The Immunology Unit and the Institute of Biomedical Research of the Hospital Universitario La Paz (IdiPAZ) are developing another line of research in which Fernando Corvillo Rodríguez (Pre-doctoral Researcher) is participating. This group has focused its research on the study of immunopathological mechanisms in acquired-type lipodystrophies (Barraquer-Simons syndrome and Lawrence syndrome).
A person's Quality of Life is determined by his/her own health status as compared to certain standards built upon what he/she expects to be able to achieve. Despite the different perceptions that each affected person has about his/her quality of life, we must not forget that infrequent lipodystrophies impose a reduction of it, so it is of vital importance to study them from this approach.
The International Association of Relatives and People Affected by Lipodystrophy AELIP, in its aim to improve the quality of life of people and families living with infrequent lipodystrophy, is going to develop a "Study of quality of life in patients affected by lipodystrophy and their families in Europe and Latin America".
The main objective of this study is to know the impact that psychosocial aspects have on the health/quality of life of people affected by lipodystrophy and their families. These specific data and the results obtained have to play a fundamental role for our entity, allowing the implementation of actions aimed at improving the care of families who find themselves in this type of situation.
This international project has the collaboration and support for its development from the FCB World Penyes Federation, European Consortium of Lipodystrophies, Spanish Federation of Rare Diseases (FEDER), Ibero-American Alliance of Rare Diseases (ALIBER) and Spanish Society of Lipodystrophies (SEL).
The study was carried out on a total of 14 people. From the interviews, it emerged that 100% of the respondents suffer from Berardinelli's Lipodystrophy and confirmed that they do not receive any type of treatment.
71% said that their economy does not allow them to lead a balanced life. With regard to the emotional support they receive, half of the respondents rate it as good and half as bad. Finally, 100% of the respondents stated that the most important needs to be met within six months are medical and financial.