Genetic obesity

The rare disease among widespread diseases

Thu, 2024 / 02 / 08

Obesity is a global health problem affecting the whole society and its relevance has increased significantly in recent decades, particularly in industrialized countries, including Germany.

A total of 52.7 % of Germans are affected by obesity, defined by a BMI ≥ 30 kg/m², with a prevalence of 19 % for both genders. Without active counteracting, it is predicted that one in two people worldwide will be overweight and one in four will be obese by 2035. These high prevalence rates and the secondary diseases associated with obesity place a burden not only on the people affected, but also on the healthcare and social systems, which is why appropriate treatments and prevention programs are becoming increasingly important.

Genetic obesity

Around 5 % of severe obesity cases are caused by a genetic mutation. These forms of genetic obesity can be divided into monogenic and syndromic obesity. Monogenic obesity often occurs due to mutations in the leptin-melanocortin signaling pathway, which controls appetite regulation and is characterized by severe obesity occurring in early childhood. In syndromic obesity, other dysmorphic features, organ abnormalities or developmental disorders often occur in addition to the excessive overweight. One example is the Bardet-Biedl syndrome.

Bardet-Biedl syndrome

The Bardet-Biedl syndrome (BBS) is a multisymptomatic rare genetic disorder whose main symptoms include severe obesity. Other common symptoms are polydactyly, developmental disorders, and hypogonadism. In addition, kidney function is often progressively impaired during childhood development, leading to the need for dialysis and a kidney transplant. Almost all these patients suffer from obesity, which is often already noticeable in infancy. Syndromic obesity in BBS patients, similar to monogenic obesity, is due to a lack of satiety and the resulting uncontrolled and excessive food intake (hyperphagia). Hyperphagia not only significantly impairs the lives of the patients but can also lead to social isolation in the long term and interfere with personal education and professional activity. Additionally, obesity is associated with a significant cardiovascular risk, which in turn can contribute to further co-morbidities.

The diagnosis of BBS is, due to the large number and varying severity of symptoms, often a challenge. Especially in infants and preschool children only isolated symptoms may be present, such as polydactyly or renal anomalies. This can mean that the correct diagnosis is sometimes delayed for many years and patients usually undergo a long history of different treatments without any significant improvement.

Treatment of Bardet-Biedl syndrome

There is currently no causal therapy or therapy for the entire spectrum of symptoms of BBS, but intensive research is being carried out regarding a potential gene therapy. This makes regular medical care even more important, as conditions such as high blood pressure, elevated blood sugar levels and vitamin and hormone deficiencies can be treated effectively. If these conditions remain untreated, they can lead to further health problems. Obesity and the associated problems can be positively influenced to some extent by a healthy, low-calorie diet and regular exercise. In addition, a new drug was approved a few months ago that is the first and only causal therapy against the specific genetic defect that disables the satiety center. Studies have shown that this leads to a significantly reduced hunger in many patients and consequently to a considerable weight reduction. In this respect, at least, a new drug therapy enables affected patients to improve their quality of life and participate in life - even with the burden of a rare disease.

As a strategy consultancy in the healthcare sector, SKC Beratungsgesellschaft 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 in order to raise awareness and perception for those.

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