Lipodystrophies, or lipodystrophic syndromes, are a group of rare diseases that directly affect adipose tissue and, as a result, cause metabolic abnormalities in the body. “This is a heterogeneous group of diseases that share the common feature of selective and irreversible adipose tissue deficiency in the absence of nutritional deprivation or a catabolic state, ” explains Dr. Pilar Rodríguez Ortega, a specialist in Endocrinology and Nutrition at the Juan Ramón Jiménez Hospital in Huelva.
To mark World Lipodystrophy Day, the expert discusses in this interview with AELMHU the current state and future of lipodystrophies, the importance of early detection, and the need to move toward a more coordinated, equitable, and patient-centered care model.
From a clinical perspective, these conditions can be classified based on the extent of fat loss (generalized or localized) and also according to their origin, whether hereditary or acquired. In all cases, they share a complex pathophysiological basis that goes beyond a mere cosmetic change in the patients.
By definition, lipodystrophies are considered rare diseases, as their prevalence is less than 5 cases per 10,000 people. However, the expert warns that their actual impact could be greater due to “significant underdiagnosis.”
A group of systemic diseases
One of the key points highlighted by Dr. Rodríguez Ortega is that lipodystrophies are not merely disorders of adipose tissue, but diseases with significant systemic consequences.
“From an endocrinological standpoint, they primarily affect carbohydrate and lipid metabolism,” he notes, which leads to the development of diabetes, insulin resistance, and severe hypertriglyceridemia. In addition, there are complications in other organs such as the heart, kidneys, liver, and neuromuscular system.
These changes are primarily caused by a decrease in hormones produced by adipose tissue, such as leptin and adiponectin. Among other effects, this deficiency leads to an imbalance in energy metabolism and a constant feeling of hunger, which further exacerbates the metabolic imbalance.
In addition, patients exhibit a highly characteristic phenotype resulting from fat loss, which includes a pronounced muscular appearance and abnormal fat deposits in certain unusual areas of the body, such as the neck, under the chin, and increased visceral fat, leading to an enlarged waist circumference.
Among the most significant complications is cardiovascular risk, which can vary depending on the type of lipodystrophy. In some cases, particularly in genetic forms, severe heart disease may develop. In this context, he emphasizes the importance of early diagnosis and genetic testing, which allow for the identification of at-risk patients and the implementation of preventive measures to avoid, for example, sudden death in cases of severe dilated cardiomyopathy, ventricular dysfunction, and arrhythmogenic disorders.
Diagnosis: The Challenge of Looking Beyond
Diagnosing lipodystrophies remains one of the main challenges. In generalized forms, symptoms may appear as early as childhood, while in other cases they become more apparent during puberty.
However, the key lies in clinical suspicion. “It is important to raise awareness of the characteristic phenotype of these patients,” explains the specialist, who acknowledges that for years these conditions have gone unnoticed by both patients and clinicians because insufficient attention has been paid to this phenotype.
This set of characteristics, along with severe metabolic abnormalities, should alert healthcare professionals to the possible presence of lipodystrophy. “For example, when we see poorly controlled diabetes with high insulin requirements and marked hypertriglyceridemia, combined with this phenotype, the first thing we should suspect is that there may be underlying lipodystrophy or a lipodystrophic syndrome, ” he notes.
The Importance of a Multidisciplinary Approach
The approach to lipodystrophies combines preventive measures, treatment of complications, and, in some cases, specific therapies. From a nutritional standpoint, Dr. Rodríguez Ortega emphasizes the importance of early intervention. “It is essential to establish a diet that limits simple carbohydrates, ” she explains, in addition to reducing saturated fats and encouraging the consumption of healthy fats.
Physical exercise also plays a key role in improving metabolic control. However, in many cases, drug therapy is necessary, especially for managing diabetes and insulin resistance.
Despite these advances, the specialist points out that these are chronic conditions with no cure. “We must focus on a holistic approach,” she notes, emphasizing the need to treat all complications in a coordinated manner, since lipodystrophies require the involvement of multiple medical specialties, ranging from endocrinology to cardiology, neurology, hepatology, and nephrology.
“It is essential that each patient receive multidisciplinary care,”, says the doctor, who highlights the role of endocrinologists as coordinators.
In his view, collaboration among professionals not only improves treatment but also facilitates diagnosis, since, in many cases, it is specialists from other fields who detect signs that can lead to the identification of the disease.
In the field of research, the expert believes that significant progress has been made, particularly in genetics. However, she warns of the gap between scientific knowledge and its clinical application. “What we may be lacking is for that research to make its way into clinical practice, ” she laments.
The role of associations: support and visibility
As with other rare diseases, patient organizations, such as the International Association of Families and People Affected by Lipodystrophy (AELIP), play a vital role in both supporting patients and raising awareness about the disease.
The doctor emphasizes the importance of these organizations as a source of support for patients, many of whom have gone years without a diagnosis. “They’ve been through a long and difficult journey, ” she notes, also highlighting the psychological and social impact of the disease.
In addition, these organizations facilitate access to information and specialists, helping in some cases to speed up the diagnosis. “Many patients feel supported thanks to these organizations, ” he notes, highlighting their role in the patient’s overall well-being.
Looking to the future: early detection and equity as priorities
Looking ahead, Dr. Rodríguez Ortega is clear about the priorities: the first is to improve early detection by raising awareness among all healthcare professionals: “Early detection is the most important thing. From there, it is essential to tailor treatment to the specific type of lipodystrophy and its severity.”
The ultimate goal is to anticipate complications and minimize their impact. “In short, we need to act as early as possible to prevent complications, ” he summarizes. In addition, he believes it is necessary to continue advancing research, ensure equitable access to treatments, and strengthen collaboration among institutions, professionals, and associations.
