Understand the Conditions
LEPR deficiency
Leptin receptor deficiency, also known as LEPR (pronounced LEP-ar) deficiency, is a rare genetic disease.
People living with this disease have specific gene changes, or variants, in one of their genes (called the LEPR gene) that keep the brain from understanding that the body is full.
LEPR deficiency can be passed to a child if both parents have a change in the LEPR gene.
Symptoms of
LEPR deficiency
Three key symptoms of LEPR deficiency:
Hunger and
obesity due to
LEPR deficiency
Babies with LEPR deficiency usually have a normal weight at birth. Within the first few weeks of life, they can start showing signs of being hungry all the time (like crying constantly to be fed) and rapidly gaining weight.
As children get older, other signs and symptoms can develop:
- Early childhood: Abnormal eating and food-seeking behavior; this may include fighting with other children over food, hoarding, or hiding food
- Early adulthood: Some people develop type 2 diabetes
How LEPR deficiency is inherited
LEPR deficiency is inherited in what is called an autosomal recessive manner. This means that someone with LEPR deficiency will have two copies of the genetic variant that causes the disease.
If you have only one copy, you are considered a "carrier" and typically won't experience symptoms of the disease. You can only inherit an autosomal recessive disease if both of your parents are carriers and each passes down the genetic variant to you.
In very rare cases, someone who has just one disease-causing gene variant may develop some of the symptoms. This is known as LEPR heterozygous deficiency.
Diagnosing LEPR deficiency
If your doctor suspects LEPR deficiency based on clinical signs and symptoms, a genetic test can be ordered which may help aid in diagnosis.
Explore a treatment option for obesity due to LEPR deficiency
Educational resources and support for
LEPR deficiency
Actor portrayal
Connect with a dedicated point of contact who can help support you through your journey of living with LEPR deficiency.
InTune is your source for one-on-one personalized support,* available throughout your journey. This program provides resources, education, and information tailored to fit your unique needs.
* Patient Education Managers are employees of Rhythm Pharmaceuticals and do not provide medical care or advice. We encourage you to always speak to your healthcare providers regarding your medical care.