LEPR deficiency

Leptin receptor (LEPR) deficiency is a disease caused by biallelic variants in the LEPR gene.37 There are approximately 500-2000 people living with LEPR deficiency in the United States.25

The LEPR gene encodes for the LEPR protein:37

  • Biallelic variants in the LEPR gene that cause leptin receptor deficiency prevent the receptor from responding to leptin

“It was clear our son was just not a happy baby. People would say try this or that, but it didn’t do anything because all he wanted was food.”

Karen, whose son Ben is living with LEPR deficiency

LEPR deficiency is inherited in an autosomal recessive manner

Inheritance

LEPR deficiency is inherited in an autosomal recessive manner.7

Individuals can have biallelic or heterozygous variants of LEPR.37 Variants may be identified through genetic testing, and results can be discussed with a geneticist.

In some cases, individuals with heterozygous variants may develop some symptoms of the disease:1,37,54

  • Heterozygous variants of LEPR are found more frequently in individuals with obesity than in normal-weight individuals
  • Unlike the homozygous disease, individuals who are heterozygous for LEPR may not exhibit endocrine abnormalities
  • Individuals who are heterozygous for LEPR exhibit variable severity of obesity

Common features

Primary signs and symptoms include:37

Hyperphagia

Excessive eating caused by hyperphagia

Early onset obesity

Early-onset, severe obesity

Hyperinsulinemia

Hyperinsulinemia

Hypogonadotropic hypogonadism

Hypogonadotropic
hypogonadism

Additional signs and symptoms may include:

  • Delayed puberty
  • Type 2 diabetes by early adulthood
LEPR deficiency may be diagnosed with genetic testing

Diagnosis

Do you suspect a patient may have LEPR deficiency? Learn about a sponsored genetic testing program designed to help identify rare genetic diseases of obesity.

Learn more

Treatment

Find out about a treatment option for LEPR deficiency.

LEARN MORE


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