Postural orthostatic tachycardia syndrome due to NET deficiency

Postural orthostatic tachycardia syndrome due to NET deficiency (also called POTS due to norepinephrine transporter deficiency, or NET-deficient POTS) is a rare inherited condition that affects how the body controls heart rate when you stand up. It is caused by changes (mutations) in the SLC6A2 gene, which provides instructions for making a protein called the norepinephrine transporter (NET). This transporter normally helps recycle a chemical messenger called norepinephrine (also known as adrenaline) back into nerve cells after it has done its job. When NET does not work properly, norepinephrine builds up in the spaces between nerve cells, causing the heart to beat much faster than normal when a person stands up. The main feature of this condition is a rapid increase in heart rate — usually more than 30 beats per minute — within 10 minutes of standing, without a significant drop in blood pressure. This leads to symptoms like dizziness, lightheadedness, fainting or near-fainting, heart pounding (palpitations), and extreme tiredness. Many people also experience brain fog, headaches, and nausea. Symptoms often get worse in warm environments, after eating, or during physical activity. Treatment focuses on managing symptoms rather than curing the underlying cause. Lifestyle changes such as increasing salt and fluid intake, wearing compression garments, and doing specific exercises can help. Medications like beta-blockers, fludrocortisone, midodrine, and ivabradine are sometimes used to control heart rate and improve blood pressure regulation. With proper management, many people can improve their quality of life significantly.

Bring these to your next appointment

• Q1.What genetic testing do you recommend to confirm this diagnosis, and how long will results take?,Which medications are most appropriate for my specific symptoms, and what are the side effects?,Are there any lifestyle changes that are most important for me to start right away?,Should other family members be tested for the SLC6A2 gene change?,Are there any clinical trials or research studies I could participate in?,How will we know if my treatment is working, and how often should I be monitored?,Are there any activities or situations I should strictly avoid?

Common questions about Postural orthostatic tachycardia syndrome due to NET deficiency

Related conditions

Other rare diseases commonly researched alongside Postural orthostatic tachycardia syndrome due to NET deficiency.

• Dopamine beta-hydroxylase deficiency→
• Familial dysautonomia→
• Primary orthostatic hypotension→