Genetic Testing for Rare Disorders of Obesity

Obesity is a serious health issue that is associated with the leading causes of death across the country, such as heart disease, diabetes, stroke and cancer. Obesity has typically been associated with a person eating more calories than they burn on a regular basis. In recent years, it has become evident that genes also play a role in the development of obesity. Rare genetic variants have been shown to be a key pathway responsible for regulating hunger, which could result in rare genetic disorders of obesity. 

At Northeast Georgia Physicians Group (NGPG) Bariatrics, we use genetic testing to help diagnose these rare genetic disorders that cause obesity. By diagnosing early, we can help manage your health more effectively and help you make more informed decisions about your health care. 

If you or a loved one are struggling with obesity that hasn’t been managed by traditional, medicinal or interventional methods, you can rely on our team of specialists at NGPG Bariatrics to provide you with testing and management options for obesity causing genetic disorders.  

What are the symptoms of genetic obesity disorders? 

Many people with these rare disorders of obesity are often affected with early-onset, severe obesity and suffer from insatiable hunger (hyperplagia). Some other common symptoms of rare genetic disorders of obesity may include: 

  • Childhood obesity 
  • Vision issues 
  • Diabetes 
  • Cognitive impairments 
  • Kidney problems 
  • Seizures 

It is important to note that these symptoms may vary depending on the disorder type and severity.  

What disorders cause genetic obesity? 

Genetic obesity disorders, while rare, affect nearly 5 million people struggling with obesity in the United States. Some of the more common genetic disorders that cause obesity include: 

  • POMC deficiency: POMC deficiency genetic disorder impacts the production of hormones and endorphins caused by a lack of POMC proteins made by the mutated POMC gene.  
  • LEPR deficiency: LEPR deficiency disorder is caused by LEPR gene mutation, causing a lack of leptin receptor proteins that communicate fullness to the brain.  
  • Bardet Biedl syndrome: Bardet Biedl syndrome affects several organ systems due to a mutation in the cilia of the cells, affecting cell movement and sensory reception. 
  • Alström syndrome: Alström syndrome is caused by the mutation of the ALMS1 gene and can affect multiple organ systems.   

Who’s at risk for genetic obesity disorders? 

While anyone can suffer from weight issues, obesity caused by genetic disorders is often hereditary, meaning it runs in the family. Some people are more likely to have a rare genetic disorder of obesity than others, some common risk factors include: 

  • Childhood obesity 
  • Family history of obesity 
  • Parent(s) with certain genetic mutations 
  • Having neurological issues 
  • Stunted growth 
  • Endocrine abnormalities 

How are genetic obesity disorders diagnosed? 

To check for rare genetic disorders that cause obesity, our team at NGPG Bariatrics offers cutting edge genetic testing for our patients across North Georgia. Your testing will be done either in-office or at home using Rhythm Pharmaceuticals’ Uncovering Rare Obesity (URO) tests.  

What is Uncovering Rare Obesity (URO) testing? 

The Uncovering Rare Obesity (URO) program is used to test for rare genetic disorders that cause obesity. NGPG Bariatrics uses the URO program to collect blood or saliva samples that will be tested to determine the underlying cause of your obesity.  

We offer in-office testing using oral swabs. Patients opting for home testing will have a saliva sample kit and instructions mailed to their home. Your sample will be sent to PreventionGenetics, a clinical laboratory for testing. Once the sample is submitted, your NGPG Bariatrics specialist will receive the results within 3 weeks and discuss them further with you. Working with Rhythm also provides you with access to a certified genetic counselor. You will have one session before the results are given and then a following session to discuss your post-test results. 

Eligible patients must be 18 years or younger with a BMI above the 97th percentile OR 19 years or older with a BMI above 40 and a history of childhood obesity before the age of 10.  

How are genetic obesity disorders treated? 

Every case of obesity is different, especially those caused by rare genetic disorders.  While obesity causing genetic disorders typically aren’t curable, our providers can help find the right interventions to improve your symptoms. NGPG Bariatrics offers a wide range of treatment options for weight loss and management. 

NGPG Bariatrics offers non-surgical weight loss treatments such as the gastric balloon procedure, weight loss medications and the OPTIFAST® program. For surgical options, our team performs robotic bypass procedures and sleeve gastrectomy. Talk with your NGPG Bariatrics specialist to determine which treatment route is best for your case.  

Choose NGPG for Genetic Testing for Rare Disorders of Obesity 

At NGPG we understand how complicated overcoming obesity can be. Despite common perceptions, there are many factors that contribute to excess weight in some people, including genetics. If you or a loved one have struggled with early onset obesity and have continued to be unable to lose weight, you may require genetic testing for rare disorders of obesity.  

At NGPG Bariatrics, we offer Rhythm Pharmaceuticals’ Uncovering Rare Obesity (URO) program to help us diagnose and properly treat any genetic condition causing your obesity. If you are struggling with your weight and suspect you may have a genetic disorder, trust NGPG Bariatrics to provide expert diagnosis and care, tailored to your needs.