Living with Obesity due to pro-opiomelanocortin deficiency
An inherited condition with constant hunger and severe obesity from early childhood, low adrenal hormones, and often red hair and pale skin.
Understanding Obesity due to pro-opiomelanocortin deficiency
Babies are usually a normal weight at birth but are constantly hungry and gain weight quickly. They are severely obese by age 1. Low levels of a hormone called ACTH lead to adrenal insufficiency, which can cause low blood sugar and seizures. Pale skin that burns easily and red hair are common, though not in everyone. GARD lists onset as newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Obesity beginning in early childhood
- Constant, strong hunger (polyphagia)
- Low adrenal hormone levels (adrenal insufficiency)
- Red hair
- Patchy lightened skin
- Slowed flow of bile from the liver (cholestasis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in POMC are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the POMC gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: obesity, adrenal insufficiency, and red hair due to pomc deficiency; obesity, early-onset, adrenal insufficiency, and red hair; obesity, early-onset, with adrenal insufficiency and red hair; pomc deficiency; proopiomelanocortin deficiency; proopiomelanocortin deficiency syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
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Perspectives from people navigating life with Obesity due to pro-opiomelanocortin deficiency.
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