Leptin Receptor Deficiency Obesity

What is Leptin Receptor Deficiency Obesity

Leptin receptor deficiency (LRD) is an autosomal recessive disorder that is characterized by severe obesity with early onset. It is caused by mutations in the leptin receptor gene, and is thought to be the most common cause of severe obesity among children. It is estimated that 1 in 175,000 people suffer from LRD worldwide. Leptin is a hormone produced by fat cells and is known to play a key role in regulating appetite, which is why people with LRD have a heightened appetite.

Leptin receptor deficiency is mostly seen in children, although adults can also be affected. Symptoms of LRD include:

  • Severe and early-onset obesity
  • Feeding problems
  • Extreme hunger and appetite
  • Poor growth
  • High Cholesterol Levels
  • Developmental delay

Leptin receptor deficiency is diagnosed through genetic testing. Although it is not curable, it can be managed to a degree through early nutrition and lifestyle intervention. Treatment includes diet management, counseling, physical activity, and possibly medication to help control appetite and cholesterol levels. Additionally, family members of people with LRD should be aware of the condition and be tested for genetic mutations.