Genetic collagen disorders and vascular issues with Heather Perne, NP-C, CWS
Nurse practitioner and vascular specialist Heather Perne describes how her vascular clinic in Toledo, Ohio is building services for patients with heritable connective tissue disorders (e.g., vascular EDS, Marfan, Loeys–Dietz) and related vascular problems, and how these often intersect with POTS/dysautonomia, MCAS, and hypermobile EDS. She explains the difference between hypermobile EDS (common in POTS, not typically life‑threatening) and rare, high‑risk vascular EDS, and emphasizes that most POTS/hEDS patients do not need advanced genetic testing unless there are specific red flags such as early aneurysms/dissections, certain eye, dental, skeletal, or hernia findings, or a strong family history of major vascular events at a young age. Heather shares her own story of 26 years of unexplained shortness of breath and heat intolerance before an autonomic diagnosis, followed by discovery of a variant of unknown significance in the COL3A1 (vascular EDS) gene and a small brain aneurysm, underscoring the importance of family history and careful imaging in selected patients. In clinic she screens for hEDS, heritable thoracic aortic disease, POTS/dysautonomia, MCAS, vascular compression syndromes, pelvic venous insufficiency, and newer vascular phenotypes such as transverse venous sinus stenosis with intracranial hypertension, then coordinates imaging, labs, and referrals; she also notes research suggesting pelvic venous insufficiency treatment can improve POTS symptoms in some patients. Heather strongly condemns gaslighting of complex patients, stresses that normal tests do not rule out conditions like POTS, MCAS, or hEDS, and urges clinicians not to let their "preconceived notions get in the way of reality," while encouraging patients to seek second opinions and providers who genuinely listen. Patients can self-refer to her vascular practice (insurance permitting) for evaluation and, when appropriate, genetic testing and counseling around these overlapping vascular and connective tissue conditions.
