Lifestyle or genetics
Not every disease is recognizable as such at first glance
Obesity can affect health already in childhood and continues to have negative health consequences into adulthood. This includes serious diseases such as diabetes, cardiovascular diseases or certain types of cancer, all of which contribute to a lower life expectancy for those affected. Obesity is not always a consequence of personal lifestyle, and in some cases conservative treatment methods do not promise success - such as in the rare congenital forms of obesity.
These rare forms of genetic obesity are diseases of the central nervous system, which, due to loss-of-function mutations and associated disturbances of the leptin-melanocortin signaling pathway, lead to a pathological, uncontrollable feeling of hunger and lack of satiety. This so-called hyperphagia is characterized by an excessive hunger, associated with an increased food intake, and simultaneously reduced energy consumption and an associated enormous weight gain, which ultimately results in severe overweight or obesity. This often leads to enormous suffering, low self-esteem, social isolation, and an increased risk of serious secondary diseases in the affected patients.
In contrast to lifestyle obesity, a characteristic of the rare genetic obesity is the extreme weight gain at an early disease onset. For example, patients as young as 10 years of age may already weigh almost 100 kg. In such cases, conventional weight control measures, such as dietary, exercise or behavioral therapy, neither lead to a sustained reduction in body weight nor to long-term stabilization.
A confirmed diagnosis lays the foundation for combating this rare and inadequately known disease. Due to the rarity as well as the low awareness of the disease, genetic diagnosis often takes place too late or not at all. Currently, there is no patient organization and there are only a few specialized clinics dealing with genetic obesity. Yet especially young people with extreme obesity could benefit from a confirmed diagnosis, because meanwhile drug therapies like metreleptin and setmelanotide are available, which are used to treat monogenic forms of obesity, compensate for the genetic defects, restore the balance of hunger and satiety, and thus contribute to significant and sustained weight loss. At the same time, such a taming of the constant feeling of hunger means an enormous improvement in the quality of life for the affected patients as well as their relatives - both on a physical and psychological level.
As a strategy consultancy in the healthcare sector, SKC is committed to ensuring that new drugs for rare diseases gain access to the German market, and thus improve the care of affected patients. Therefore, in this blog series related to the Rare Disease Day, we report on selected rare diseases to raise awareness and perception for those.
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M.Sc. Biology
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