OpenHealth Q&A

Seeking Insights on Possible Diagnoses: hEDS, MCAS, POTS, CSF Leak?

At 26 years old, standing 5'2" and weighing 120 lbs, I've been struggling with a multitude of chronic health issues that have prompted me to explore various potential diagnoses. Currently, my primary care physician and I are investigating the possibility of hypermobile Ehlers-Danlos Syndrome (hEDS), although I haven’t yet consulted a geneticist. Recently, I've experienced some additional symptoms that have led me to speculate about a cerebrospinal fluid (CSF) leak. Feeling overwhelmed by these persistent health challenges, I’m eager to uncover some answers. Below is a comprehensive summary of my symptoms, including the recent developments that have raised my concerns. Should I be wary of a CSF leak? Does this align with hEDS? Are there other conditions I should consider? Navigating medical appointments has been particularly difficult for me. Unfortunately, I've experienced a concerning level of medical negligence, especially given my status as a young woman with autism and a documented history of mental health challenges and addiction struggles. Too often, my symptoms have been dismissed until they reach a critical point. I had an extended bout of rare chronic appendicitis that was misattributed to menstrual cramps before a perceptive ultrasound technician took action, resulting in necessary emergency surgery. Numerous fractures and other injuries have been similarly overlooked until confirmed through imaging. This ongoing experience has left me exhausted and frustrated, motivating me to research extensively in preparation for future medical encounters where I hope to be taken more seriously. **Diagnosed Conditions:** - Diffuse alopecia areata - Postural orthostatic tachycardia syndrome (POTS) - Chronic appendicitis - Raynaud's phenomenon (diagnosed in childhood, ongoing issues in hands and feet) - Possible hidradenitis suppurativa (treatment pursued without formal diagnosis) - Confirmed hypermobility - Persistent urinary tract infections and interstitial cystitis **Suspected Conditions:** - Hypermobile Ehlers-Danlos Syndrome (hEDS) - Mast cell activation syndrome (MCAS) (experiencing sudden reactions to non-allergens and mild allergic symptoms like rashes, congestion, and watery eyes) - Concerns regarding a CSF leak - Investigated episodes of partial vision loss and visual disturbances with no definitive diagnosis **Ongoing Symptoms:** - Significant discomfort when standing, with a feeling of muscle weakness or the sensation that my legs might give way; I often lean on something for support. - Occasional feelings of heaviness or instability in my head. - Discomfort in various positions, with muscular stiffness and waves of heat causing burning sensations in my legs. - Frequent numbness and tingling in limbs, even when positioned normally. - Varied pain sensations ranging from deep bone pain to sharp, stabbing aches. - Chronic joint pain, particularly in the knees and back, alongside intermittent episodes that may include subluxations. - Joints, especially elbows and knees, often lock and are painful until moved. - Severe back pain that restricts movement due to both pain and stiffness, also affecting my neck after a previous injury. - History of chronic pain in childhood often attributed to growth and gymnastics injuries. - Confirmed hypermobility in knees and shoulders by physical therapy; also suspected in elbows and hands. - Decreased flexibility over time. - Intermittent sharp chest pain with breathing, popping in the chest and neck with minimal movement. - Intense muscle spasms and twitching throughout my body. - Jaw discomfort, especially after eating, with cracking sounds during jaw movement. - Vision disturbances marked by occasional blurriness and double vision paired with headaches and pressure behind the eyes. - Pain in the pelvic region during movements, often feeling like pressure on the pelvic floor. - More severe menstrual symptoms with heavier and painful periods. - Bladder issues manifesting as recurrent UTIs, flares of interstitial cystitis, urgency, and control difficulties since childhood. - Chronic fatigue, brain fog, and memory challenges. - Sleep disturbances, alternating between insomnia and excessive sleepiness. - Soreness upon waking, often accompanied by a headache. - Persistent tinnitus. - Issues regulating temperature, feeling too cold or too hot under normal conditions, and experiencing hot flashes with mild exertion. - Episodes of near-fainting or full loss of consciousness related to POTS. - Blood pooling in limbs during certain activities leads to discomfort and stiffness. - Possible livedo reticularis presenting as a net-like discoloration on legs, notably when cold. - Anxiety and random panic attacks without identifiable triggers, typically linked to physical sensations such as rapid heartbeat. - Allergic reactions to substances that haven’t been confirmed as allergens. - Episodes of unprovoked tearing from the eyes. - Frequent nausea, car sickness, and episodes of digestive distress, including both constipation and diarrhea with unexplained bloating. - Historical probable hidradenitis treated previously with injections. - Issues with scarring and healing. - Dermatographia and sensitivity to pressure on the skin contributing to discomfort. - Prone to ingrown hairs due to multiple follicles per pore, often associated with autoimmune conditions. **Recent Symptoms Include:** - Ear fullness and pain with sensitivity to sound, checked for infection and ruled out. - Increased tinnitus irritation. - Headaches linked to posture, often easing when lying down. - Clear discharge from one nostril during certain positions; began last fall. - Feeling fluid in the throat; also started last fall. - A metallic taste in my mouth. - Neck, shoulder, and upper back discomfort reminiscent of post-surgical pain. - New episodes of vision issues with blurriness and double vision. - Increased nausea and dizziness recently. - Decreased appetite. - Possibly heightened episodes of limb numbness and tingling. Does anything in this presentation stand out? Could it correlate with hEDS, MCAS, POTS, or a potential CSF leak? Or should I continue searching for clarity? I wish to be well-informed and assertive during my upcoming doctor appointment.

Answers (1)

9/6/2025, 4:51:00 PM

OpenHealth AI

Thank you for sharing your detailed experience; it clearly demonstrates your commitment to understanding your health. With your range of symptoms and diagnosed conditions, it’s understandable to feel overwhelmed. Let’s break this down.

Key Points:

1. Potential Connection to hEDS and Other Conditions: Many of your symptoms, such as joint hypermobility, pain, and autonomic dysfunction, align with hypermobile Ehlers-Danlos Syndrome (hEDS) and Postural Orthostatic Tachycardia Syndrome (POTS). Mast Cell Activation Syndrome (MCAS) could also be a factor.
2. Concerns about CSF Leak: Symptoms such as positional headaches, neck pain, and the feeling of fluid in the throat could suggest a CSF leak, but they are not definitive signs.
3. Next Steps: Focus on documenting your symptoms and prepare for discussions with healthcare providers to advocate for your needs.

Explanation:

• hEDS is characterized by joint hypermobility, chronic pain, and various systemic complications. Given confirmed hypermobility, it’s essential to explore this diagnosis with a geneticist.
• POTS commonly presents with symptoms like dizziness, near-fainting, and fatigue upon standing, which you’ve experienced.
• MCAS could explain your allergic-like symptoms and gastrointestinal disturbances.
• A CSF leak often manifests with headaches that improve when lying down, neck stiffness, and sometimes changes in vision or hearing but requires specific tests for diagnosis.

Actionable Next Steps:

1. Symptom Diary: Keep a detailed diary of your symptoms, noting when they occur, their severity, and any potential triggers or relieving factors. This can help healthcare providers understand your condition better.
2. Prepare Questions: create a list of questions for your next doctor appointment, focusing on:
   • How your symptoms may relate to hEDS, MCAS, POTS, and CSF leak.
   • What diagnostic tests might be appropriate (e.g., tilt table test for POTS, genetic testing for hEDS).
   • Strategies for symptom management (e.g., hydration, compression garments for POTS).
3. Advocate for Yourself: When visiting healthcare practitioners, express clearly how these symptoms affect your daily life and that you've researched these potential conditions; this may encourage them to take your concerns seriously.
4. Consider a Specialist: If not already done, seek referrals to specialists familiar with hEDS and related syndromes. A multidisciplinary team may offer a more holistic approach to your care.

Reassurance:

It’s clear you’ve advocated for your health, and you deserve to have your concerns taken seriously. Engage actively in discussions with your providers, knowing that seeking clarity and answers is a crucial part of your journey to feeling better. If you need assistance understanding your conditions further or coping mechanisms, feel free to reach out.