On the occasion of World Lipodystrophy Day, which is celebrated every March 31, we talked to Naca Pérez De Tudela Cánovas, president of the International Association of Relatives and People Affected by Lipodystrophies (AELIP), and the endocrinologist David Araújo-Vilar, a physician specialized in this field, to tell us what these low prevalence diseases are, what it means to live with them and the importance of the support of the Patients' Associations in their approach.
The International Association of Relatives and Affected by Lipodystrophies (AELIP) was founded in 2012, at a time of deep pain for its president, Naca, who lost her daughter Celia due to an ultrarare disease that, despite being diagnosed when she was 2 years old, stopped sharing the described symptoms of this disease to develop an atrocious neurodegeneration.
It was in 2009 when Dr. Araújo-Vilar proposed to Celia's parents to investigate the situation of the little girl, something with which both Juan and Naca fully agreed. They wanted to know the cause of why their little Celia was experiencing this sum of symptoms that every day seriously affected her health until she died.
The parents, according to Naca, "found themselves without knowledge, without hope, without treatment or even palliatives. They spent years in constant uncertainty about what to do and where to go, always feeling that they were making a mistake. For this reason, they agreed to undergo medical tests that would serve to learn more about the pathology, but which, unfortunately, would not make Celia any better.
Y es que, no fue hasta 4 años más tarde cuando se descubrió la causa que originaba esta evolución constante: un nuevo subtipo de la lipodistrofia congénita generalizada, a la que se bautiza con el nombre de “ENCEFALOPATÍA DE CELIA” o Encefalopatía Progresiva con/sin Lipodistrofia (PELD, en sus siglas en inglés), un hallazgo a nivel mundial publicado en el Journal of Medical Genetics que por fin, arrojaba luz sobre el desarrollo neurodegenerativo que Celia estuvo sufriendo hasta su fin.
The birth of AELIP
However, when Celia's light was extinguished, this did not mean that Juan and Naca had to put aside this experience. They wanted to combine all the knowledge and progress they had acquired along the way and continue with the legacy that the little girl had taught them in her 8 years of life.
Con ello, AELIP nació para dar respuesta a los afectados de algún tipo de lipodistrofia Infrecuente y sus familiares, en cualquier lugar del mundo: “AELIP se fundó para dar continuidad a la investigación que se inició con Celia, y dar respuesta a todas esas personas con lipodistrofia y/o en búsqueda de diagnóstico que habíamos conocido en el camino, y las que vendrían después, personas y familias con las que compartíamos un vacío de conocimiento y orientación”, explica su presidenta.
Lipodystrophies, as he points out, are rare diseases and, on many occasions, very little known among healthcare professionals, which further complicates diagnosis and the ability to receive adequate treatment. Patients are often forced to go through a long process of medical consultations and tests without getting clear answers, which generates a feeling of helplessness, uncertainty and despair. For this reason, as Naca comments, it is very important to have an adequate approach, with a network of specialists in the pathology, who can provide patients with explanations and options so that they can improve their quality of life and, therefore, that of their families.
This is the case of Dr. David Araújo-Vilar, endocrinologist and professor of medicine at the University of Santiago de Compostela, who collaborates with AELIP and has been working and studying the field of these pathologies for more than two decades.
Como explica el doctor, las lipodistrofias son enfermedades muy heterogéneas, tanto en su presentación clínica como en sus causas. Se caracterizan por una pérdida parcial o total del tejido adiposo. Esta pérdida de grasa genera alteraciones metabólicas y hepáticas, como la resistencia a la insulina, que puede provocar un subtipo de diabetes. También pueden presentarse problemas con los lípidos, como la hipertiriceridemia, aumentando el riesgo de pancreatitis y enfermedades cardiovasculares”, detalla en palabras técnicas.
Diagnosis and symptomsSymptoms
The diagnosis of lipodystrophy is mainly made clinically, by observing the visible symptoms. In the generalized forms, mainly those of genetic origin, the diagnosis can be made from an early age due to the evident changes in fat loss, whereas, in the partial forms, also those of genetic origin, the diagnosis can be delayed until adolescence, which is when the lack of adipose tissue occurs and the phenotype manifests itself. This occurs in females, where the characteristic accumulation of fat in the hips and thighs during puberty does not occur. In males with familial partial lipodystrophy, the diagnosis is very difficult as the phenotype is not obvious and, in fact, is usually made on the basis of affected females in the family.
The life expectancy of this pathology, at least in Spain (in other countries with different healthcare systems, life expectancy, especially in partial forms, is lower), is between 60 and 84 years "depending on whether it is a generalized or partial lipodystrophy", explains the doctor, stressing that early diagnosis and appropriate treatment are fundamental to improve the quality of life and life expectancy of patients.
In this line, Dr. Araújo-Vilar points out that "multidisciplinary care is crucial, since lipodystrophies affect several organs and body systems. Collaboration between endocrinologists, nutritionists, cardiologists, plastic surgeons and other specialists is key to offering the best possible care to patients." In this line, he emphasizes that it is not "simple" to make a diagnosis, a statement that Naca subscribes to, based on his own experience: "when there is no clear diagnosis, the whole family feels lost".
She shares, through her testimony, that once a diagnosis is made, the real challenge is to face this news that "will accompany you for the rest of your life". The medical community, in her opinion, lacks the resources and tools to empower the patient and his or her family in the face of this situation of bewilderment and incomprehension.
After diagnosis
This is where the Patients' Association comes into play, in this case AELIP, which, as it emphasizes, plays a fundamental role in the emotional support and visibility of lipodystrophies. Through all the services it offers, both relatives and patients can receive information, guidance and support, and also meet other affected people anywhere in the world, sharing their experiences. In addition, they have an exclusive service such as Siolip, the information and guidance service on lipodystrophies whose main purpose is to inform, guide the family and empower the patient.
La palabra que mejor define lo que necesita un paciente cuando recibe un diagnóstico es ‘amparo’, afirma sin dudar Naca. El apoyo de la asociación es vital, “incluso si es solo para darte la mano en un momento de incertidumbre y decir ‘estoy aquí’. Eso es lo que nos falta a menudo: no solo el diagnóstico, sino sentir que no estamos solos en el camino”.
Thus, one of AELIP's most important objectives is to respond to patients' needs, whatever their nature. For this reason, its wide range of services includes legal advice, sexual counseling and psychological support services. The organization works to offer those affected and their families what the public administration often fails to cover.
Por eso, Naca resalta la importancia de que los médicos recomienden a los pacientes acudir a asociaciones, ya que muchas veces son estas entidades las que pueden ofrecer recursos y orientación más allá de lo que los médicos ofrecen: “Es crucial que los médicos conozcan la labor y estructura de las asociaciones. Nosotros ofrecemos servicios orientados a la ayuda, servicios que los médicos a veces no pueden proporcionar y, sobre todo, damos ese acompañamiento humano que tanto necesitamos”.
Difficulties
In addition to the physical symptoms and complications of the disease, one of the most difficult aspects for patients with lipodystrophy to cope with is social rejection. The disease mainly affects the distribution of body fat, leading to facial deformities and deformities in some parts of the body.
“Desde hace muchos años, estamos todos enfocados en los estándares de belleza, y todos los que no encajan en estos modelos sufren mucho más. En el caso de los pacientes con lipodistrofia, la sociedad los ve como ‘diferentes’ y eso afecta profundamente su bienestar emocional”, explica Naca, resaltando cómo los pacientes sufren la incomprensión de la sociedad y el impacto en su autoestima y, por ende, en su calidad de vida y su bienestar.
Además, la lipodistrofia no solo afecta la apariencia física, sino que también genera limitaciones en la vida cotidiana. “La gente deja de ir a la playa, deja de usar algunas prendas de ropa…Los círculos sociales y la vida se ven especialmente afectados por esta incomprensión y limitaciones”, añade.
En línea con esto, ya se están estudiando soluciones médicas a estas cuestiones meramente estéticas. “La cirugía plástica y reparadora puede ser beneficiosa en algunos casos, especialmente para corregir las deformidades faciales y reducir el estigma social. En las formas parciales familiares, las personas pueden acumular grasa en la cara, el cuello y otras partes del cuerpo, que además genera molestias físicas y, por supuesto estéticas. Esto limita su vida social, ya que, aunque la persona puede estar extremadamente delgada en la mayoría de su cuerpo, por otra parte, acumulan un exceso de grasa en áreas visibles puede hacer que se sientan incómodos”, concluye el doctor Araújo-Vilar.
Lipodystrophies are complex diseases that deeply affect both patients and their families. Through the work of associations such as AELIP, we seek to provide emotional support, make the disease visible and improve access to appropriate medical treatment. Accompanied by specialists such as David Araújo-Vilar, they allow hope and knowledge to continue to grow so that no patient feels alone. The association's mission is clear: "to continue research and support through the different services that are being implemented so that patients and families have all the possible tools to address the needs of lipodystrophies".
