Hello everyone,
For many people, standing up is automatic. For others, it comes with dizziness, a racing heart, fatigue, brain fog, and even fainting. These symptoms are hallmarks of Postural Orthostatic Tachycardia Syndrome (POTS), a form of autonomic dysfunction that affects daily life in ways that are often invisible to others.
At MKGenetix, we believe that understanding the why behind chronic symptoms can be empowering. In this post, we’ll explore the relationship between POTS and connective tissue disorders, when a genetic evaluation may be worth considering, and how genetic counseling can help bring clarity to complex, multisystem conditions.
Understanding POTS: More Than “Just Dizziness”
POTS is a disorder of the autonomic nervous system, the part of the body that controls heart rate, blood pressure, temperature regulation, and digestion. It is defined by an excessive increase in heart rate upon standing, often accompanied by symptoms such as:
- Lightheadedness or presyncope
- Palpitations and chest discomfort
- Fatigue and exercise intolerance
- Brain fog and headaches
- Gastrointestinal symptoms
- Heat intolerance and sweating abnormalities
POTS is not a single disease with one cause. It is a syndrome with multiple contributing mechanisms, including blood volume regulation issues, autonomic neuropathy, immune dysregulation, and, in many individuals, underlying connective tissue differences.
The Link Between POTS and Connective Tissue Disorders
While for some people, this is an isolated set of symptoms, for others, it is part of a larger spectrum of symptoms related to a connective tissue disorder. Connective tissue provides structural support to blood vessels, joints, skin, and organs. When this tissue is more elastic than typical, it can affect how well blood vessels maintain tone when a person stands upright.
This can contribute to:
- Excessive blood pooling in the legs and abdomen
- Reduced blood return to the heart and brain
- Reflex tachycardia as the body tries to compensate
In addition to joint hypermobility, people with POTS and connective tissue disorders may experience frequent joint subluxations, chronic musculoskeletal pain, gastrointestinal dysmotility, pelvic floor dysfunction, headaches, and fatigue. The overlap of these symptoms often points to a shared underlying biology rather than separate, unrelated diagnoses.
While the genetic basis of hEDS remains incompletely defined, other heritable connective tissue disorders (such as classical or vascular Ehlers-Danlos syndrome, Marfan syndrome, and Loeys-Dietz syndrome) do have known genetic causes. Distinguishing between these entities is important because management and medical risks can differ substantially.
When to Consider a Genetic Evaluation
Not everyone with POTS needs genetic testing. However, a genetics evaluation may be helpful when POTS occurs alongside:
- Generalized joint hypermobility with chronic pain or frequent dislocations
- Personal or family history of aneurysms, arterial dissections, or organ rupture
- Unusual skin features (marked hyperextensibility, poor wound healing, atrophic scars)
- Skeletal features suggestive of a heritable connective tissue disorder (e.g., scoliosis, chest wall differences, long limbs, or aortic dilation)
- A family history of diagnosed Ehlers-Danlos syndrome, Marfan syndrome, or Loeys-Dietz syndrome
In these situations, genetic testing can help clarify whether a defined connective tissue disorder is present and guide appropriate surveillance and management.
Why Identifying an Underlying Connective Tissue Disorder Matters
A genetic or clinical diagnosis can:
- Guide medical monitoring. Some connective tissue disorders require routine cardiovascular imaging or other organ-specific screening.
- Inform management strategies. Understanding vascular and joint fragility can influence physical therapy approaches, activity recommendations, and surgical planning.
- Provide context for symptoms. Many patients experience years of fragmented care across cardiology, neurology, gastroenterology, and rheumatology. A unifying diagnosis can validate symptoms and reduce diagnostic odysseys.
- Support family planning and cascade testing. For heritable conditions with known genes, relatives may benefit from targeted evaluation.
Even when no single gene explains the full clinical picture (as is often the case with hypermobility spectrum disorders and hEDS), recognizing the connective tissue contribution can meaningfully change care.
How Genetic Counseling Can Help
At MKGenetix, we work with individuals who have complex, multisystem symptoms that don’t fit neatly into one specialty. Our role is to help you make sense of overlapping diagnoses like POTS, joint hypermobility, chronic pain, and gastrointestinal issues.
We support you by:
- Reviewing personal and family history to assess the likelihood of a heritable connective tissue disorder
- Helping determine whether genetic testing is appropriate and which tests are most informative
- Interpreting results in clear, practical terms
- Coordinating with cardiology, neurology, and other specialists as needed
- Connecting you with credible resources and patient support organizations
You’re Not “Just Anxious” — Your Symptoms Are Real
Many people with POTS and connective tissue disorders spend years being told their symptoms are due to anxiety or deconditioning. While mental health is an important part of holistic care, POTS is a physiologic condition, and connective tissue differences are real, measurable contributors to symptoms.
Understanding the underlying contributors to POTS can replace self-doubt with validation, confusion with clarity, and frustration with a more targeted care plan.
How Can MKGenetix Help?
At MKGenetix, we provide virtual genetic counseling for individuals navigating POTS, hypermobility, and suspected connective tissue disorders. Whether you are early in your diagnostic journey or trying to make sense of overlapping symptoms and prior testing, we are here to help you put the pieces together.
If you’ve ever wondered whether there is a connective tissue explanation behind your POTS symptoms, you don’t have to navigate that question alone. Knowledge can be a powerful tool in reclaiming your health.