What are POMC, PCSK1, and LEPR deficiencies?
Actor portrayals
POMC, PCSK1, and LEPR deficiencies are all rare genetic diseases of obesity
POMC
stands for proopiomelanocortin
PCSK1
stands for proprotein convertase subtilisin/kexin type 1
LEPR
stands for leptin receptor
These conditions occur when both copies of the relevant gene (one inherited from the mother and one from the father) have a specific change, or variant. These genetic variants affect how the brain controls feelings of hunger, which leads to weight gain.
POMC, PCSK1, and LEPR deficiencies have a wide range of symptoms that can impact many systems in the body
POMC deficiency
Brain
- Insatiable hunger (hyperphagia) and resulting obesity
Endocrine
- Low levels of the hormone that manages blood sugar and metabolism (adrenal insufficiency)
Other symptoms may include:
- Endocrine: Low thyroid levels (hypothyroidism), adolescent-onset growth hormone deficiency, low blood sugar (hypoglycemia)
- Reproductive: Delayed puberty caused by hormonal imbalances (hypogonadotropic hypogonadism)
- Physical Appearance: Red hair and light skin pigmentation
- Hepatic: Liver failure
PCSK1 deficiency
Brain
- Insatiable hunger (hyperphagia) and resulting obesity
Digestive
- Upset stomach, including diarrhea within the first weeks of life
Kidneys
- Buildup of acid in the body
- Excessive thirst
Endocrine
- Diabetes
- High insulin levels in the blood (hyperinsulinemia)
- Low blood sugar (hypoglycemia)
Other symptoms may include:
- Endocrine: Low thyroid levels (hypothyroidism), decreased cortisol production
- Other: Failure to thrive in infancy
LEPR deficiency
Brain
- Insatiable hunger (hyperphagia) and resulting obesity
Endocrine
- High insulin levels in the blood (hyperinsulinemia)
Reproductive
- Delayed puberty caused by hormonal imbalances (hypogonadotropic hypogonadism)
Other symptoms may include:
- Endocrine: Diabetes
IMCIVREE is the first and only treatment that targets a root cause of obesity and hunger in people living with POMC, PCSK1, or LEPR deficiency.
What is hyperphagia?
Hyperphagia (pronounced hi-per-FAY-juh) is constant, hard-to-control hunger that does not go away
Not all hunger is the same. Constant, hard-to-control hunger due to POMC, PCSK1, or LEPR deficiency is different from typical hunger and known as hyperphagia. The majority of people living with POMC, PCSK1, or LEPR deficiency experience hyperphagia – and may suspect that it’s different from the type of hunger most others feel.
Typical Hunger
- Feeling hungry in between meals
- Having cravings from time to time
- Eating past fullness at big occasions like Thanksgiving
- Eating to feel happy, when you're bored, or during times of stress (emotional eating)
Constant, Hard-to-Control Hunger (Hyperphagia) due to POMC, PCSK1, or LEPR Deficiency
- Feeling hungry all the time
- Having continual thoughts about food
- Eating throughout any given day because you never feel full
- Eating to feel less hungry but never achieving a feeling of fullness
What does hyperphagia look like?
Caregivers often observe these behaviors even if a child can’t share their feelings:
- Demanding or negotiating for food
- Tantrums when food is unavailable
- Waking up at night to find food or staying awake because of hunger
- Night eating, sneaking food, or hiding food
Adults may experience these common behaviors of hyperphagia:
- Planning the day around food
- Feeling sadness, frustration, guilt, or anxiety when food isn’t available
- Waking up in the middle of the night to eat or staying awake because of hunger
- Hiding or sneaking food
It ’s important to understand the differences between hyperphagia due to POMC, PCSK1, or LEPR deficiency and typical hunger. Recognizing the type of hunger you are experiencing is the first step in getting the right kind of help.
Talk to your doctor if you’re concerned that your hunger might be hyperphagia.
It felt as if I could only think about food, and when I wanted to eat something, I searched until I found it.
– Person living with POMC deficiency
What I recall is this addiction-like desire for food and this constant preoccupation with it. It’s more than the physical feeling of hunger. It also plays on a mental level.
– Person living with POMC deficiency
When I would start eating something, I’d eat the whole thing. No matter what sort of package it was I’d always eat the whole thing. I also ate it at an enormous tempo. It was really terrible.
– Person living with LEPR deficiency
Individual results may vary.
Resources to support you along the way
Rhythm InTune Patient Education Managers (PEMs)* offer educational tools to help you learn more about POMC, PSCK1, or LEPR deficiency, and provide personalized ongoing support to help you stay informed throughout your treatment journey.
*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.
Explore our resource library for additional support and information.