At Patient Worthy, we are dedicated to stories about the latest in rare disease news and research, as well as posting stories from rare disease patients themselves. However, there are thousands of rare diseases that barely ever make the news. This is often simply because there is limited awareness about them and very little research or drug development is being conducted. This can leave patients with these diseases feeling the way that many rare patients do: left behind and ignored.
The counteract this trend in which certain rare diseases tend to get more of the spotlight, we will occasionally post stories that provide valuable information about rare illnesses and conditions that haven’t made the news lately. In this story, we will be looking at LEPR deficiency obesity.
Leptin receptor (LEPR) deficiency obesity is characterized by obesity that becomes noticeable within the first several months of life. Most patients are born with normal weight, but they experience extreme hunger that causes them to gain weight quickly. The severe hunger that LEPR deficiency patients experience continues throughout their lives. Ultimately, this results in abnormal food related behaviors by childhood, such as hoarding food items, fighting with peers over food, and finding ways to eat secretly. Patients may also fail to begin puberty and be rendered infertile. Obesity carries many serious health risks, like type 2 diabetes.
The disorder is caused by mutations affecting the LEPR gene. The gene is responsible for the production of the leptin receptor protein, which plays an essential role in regulating body weight. These receptor proteins can be found on the surface of a number of organs including a section of the brain called the hypothalamus. This part of the brain is essential for many important functions, like mood regulation, sleep, body temperature, thirst, and hunger. The mutations that cause the disorder prevent the receptors from reacting the leptin, which prevents the protein from regulating weight gain and hunger.
Unfortunately, only limited research has been conducted on LEPR deficiency obesity, and the prevalence of the disorder remains unknown; however, only about thirty confirmed cases are known to science so far; it is possible that some patients are undiagnosed.
So far injections of recombinant leptin appear to be a worthwhile therapy, causing weight loss, normalization of appetite, and normalization of puberty. Learn more LEPR deficiency obesity here.
