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.
In fact, it wasn’t until four years later that the cause of this steady progression was discovered: a new subtype of generalized congenital lipodystrophy, which was named “CELIA ENCEPHALOPATHY” or Progressive Encephalopathy with/without Lipodystrophy (PELD), a worldwide finding published in the Journal of Medical Genetics that finally shed light on the neurodegenerative process Celia had been suffering from until the end of her life.
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.
With this in mind, AELIP was founded to support people affected by any type of rare lipodystrophy and their families, anywhere in the world: “AELIP was founded to continue the research that began with Celia, and to support all those people with lipodystrophy and/or seeking a diagnosis whom we had met along the way—as well as those who would come later—individuals and families with whom we shared a lack of knowledge and guidance,” explains its president.
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.
As the doctor explains, lipodystrophies are highly heterogeneous diseases, both in their clinical presentation and in their causes. They are characterized by a partial or total loss of adipose tissue. This loss of fat leads to metabolic and hepatic abnormalities, such as insulin resistance, which can cause a subtype of diabetes. Lipid abnormalities, such as hypertriglyceridemia, may also occur, increasing the risk of pancreatitis and cardiovascular disease,” he explains in technical terms.
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.
"The word that best describes what a patient needs when receiving a diagnosis is 'support,'" Naca says without hesitation. The association's support is vital, "even if it's just to hold your hand in a moment of uncertainty and say, 'I'm here.' That's what we often lack: not just the diagnosis, but the feeling that we're not alone on this journey."
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.
That is why Naca emphasizes the importance of doctors recommending that patients reach out to associations, since these organizations are often the ones that can offer resources and guidance beyond what doctors provide: “It is crucial that doctors understand the work and structure of these associations. We offer support services—services that doctors sometimes cannot provide—and, above all, we offer the human connection that we all need so much.”
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.
“For many years now, we’ve all been fixated on beauty standards, and anyone who doesn’t fit these models suffers much more. In the case of patients with lipodystrophy, society views them as ‘different,’ and that profoundly affects their emotional well-being,” explains Naca, highlighting how patients suffer from society’s lack of understanding and the impact this has on their self-esteem and, consequently, on their quality of life and well-being.
Furthermore, lipodystrophy not only affects physical appearance but also creates limitations in daily life. “People stop going to the beach, stop wearing certain clothes… Social circles and daily life are particularly affected by this lack of understanding and these limitations,” he adds.
In line with this, medical solutions to these purely aesthetic issues are already being explored. “Plastic and reconstructive surgery can be beneficial in some cases, especially for correcting facial deformities and reducing social stigma. In familial partial forms, people may accumulate fat in the face, neck, and other parts of the body, which also causes physical discomfort and, of course, aesthetic concerns. This limits their social life, since, even though the person may be extremely thin in most parts of their body, accumulating excess fat in visible areas can make them feel self-conscious,” concludes Dr. 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".