OpenHealth Q&A

Exploring the Connection Between Autoinflammatory Conditions and HSD/hEDS

- Female, 25 years old, non-smoker, consumes alcohol infrequently (1-2 drinks weekly). - Medical conditions include: Hypermobile Spectrum Disorder, migraines, anxiety and depression, and mild obstructive sleep apnea. - Medications taken consist of: Prozac, Wellbutrin, Yasmin, Colchicine, Ryaltris, Salbutamol, Ativan (taken as needed), Rizatriptan (taken as needed), and antihistamines (as needed). - Symptoms reported: persistent joint and muscle discomfort, fatigue, cognitive fog alongside memory lapses, skin rashes (including blistering reactions to sunlight, unexplained hives, and cold-induced hives), recurring mouth ulcers, migraines, episodes of breathlessness and tightness in the chest (not associated with anxiety), ongoing nasal congestion, sore throat and earaches, night sweats, heat sensitivity, and memory difficulties. - Medical history includes: tonsillectomy and adenoidectomy. - Lab results: elevated CRP, low-normal iron levels, negative ANA, MRI of the brain and spine showed no abnormalities, and extensive testing yielded normal findings. I realize that my situation might come across as overwhelming, but I'm reaching out to seek clarity on whether it’s conceivable to have both Hypermobile Spectrum Disorder/hypermobile Ehlers-Danlos Syndrome and an autoinflammatory condition like Cryopyrin-Associated Periodic Syndrome (CAPS). Over the past few years, my quality of life has significantly declined, impacting every aspect from my career to personal relationships. Since childhood, I have battled chronic pain in my joints and muscles, frequent migraines, and overall poor health. During my younger years, I was often ill, enduring what felt like continuous bouts of cold and flu accompanied by high fevers. My childhood rheumatologist and I suspected fibromyalgia due to the negative ANA results. Over the years, I have also experienced numerous skin rashes, respiratory issues, cognitive impairments, and profound fatigue. An adult diagnosis of HSD (with a possibility of hEDS) was made due to signs of hypermobility, joint instability, and skin vulnerability— leading to referrals to both a cardiologist and immunologist to investigate possible POTS (Postural Orthostatic Tachycardia Syndrome) and MCAS (Mast Cell Activation Syndrome). The cardiologist ruled out cardiac issues and prescribed a high-salt diet, which seems to alleviate the tachycardia and near-fainting episodes I frequently faced. The immunologist proposed that there might be an autoinflammatory component rather than MCAS, potentially resembling CAPS. My flares tend to be episodic, persisting from 1 to 3 days or longer, often incited by temperature changes, stress, sleep disturbances, or viral infections. Lately, my reactions to cold have intensified, ranging from localized hives during simple tasks to full-body responses that include severe aches, swelling around my eyes, and significant chills. Genetic testing identified a rare variant in NLRP3 recorded as a variant of uncertain significance (VUS). I’m currently awaiting a referral to an autoinflammatory expert, and in the meantime, colchicine has substantially eased my symptoms—improving my breathing and resolving my migraines, alongside more manageable flare-ups. Although it's only been over a month, I am hopeful without succumbing to the idea of a placebo effect. My main inquiry revolves around the potential of simultaneously having both a connective tissue disorder like HSD/hEDS and an autoinflammatory illness such as CAPS. Each is uncommon, with CAPS being particularly rare; thus, I’m concerned about the feasibility of having both, one, or perhaps none at all. My history of managed anxiety and depression makes me fear that I might be dismissed by practitioners, especially with the contemporary perception of hEDS as just a trend propelled by social media hype (though I received my diagnosis from a reputable research institution). I welcome any insights or experiences you might share. What would your perspective be if someone with my profile consulted you? I feel lost amid an expanding list of health issues and treatment plans, and outside of a few healthcare professionals, those I’ve confided in often react skeptically. Ultimately, my priority is to find any treatment that can enhance my quality of life; however, I worry about being mischaracterized as someone seeking drugs or exaggerating symptoms, thereby leaving me with a deteriorating medical situation. Thank you for your consideration.

Answers (1)

7/15/2025, 6:40:59 AM

OpenHealth AI

It's understandable to feel overwhelmed with your complex medical history and the various symptoms you are experiencing. It's certainly conceivable to have both Hypermobile Spectrum Disorder (HSD)/hypermobile Ehlers-Danlos Syndrome (hEDS) and an autoinflammatory condition such as Cryopyrin-Associated Periodic Syndrome (CAPS), as the two are not mutually exclusive. Many patients with connective tissue disorders can indeed present with additional autoinflammatory features.

Explanation

1. Overlap of Conditions: Patients with HSD/hEDS often experience a range of systemic symptoms, and the chronic pain, fatigue, and cognitive issues you describe can correlate. Autoinflammatory conditions can also present alongside other disorders, sometimes complicating diagnosis and management. Even though CAPS is rare, having a variant in the NLRP3 gene raises the possibility of an autoinflammatory syndrome, especially considering your episodic flares and symptoms that worsen with temperature changes or stress.

2. Symptom Management: Your experience with colchicine suggests that you may respond positively to treatments aimed at controlling inflammation. It's crucial to monitor which therapies provide relief so that you can share this information with your healthcare team.

3. Concerns about Validation: Your worries about being dismissed due to prior mental health issues or societal perceptions of hEDS are valid. Many professionals, unfortunately, still hold biases against conditions perceived as less "serious" or "trendy". It's essential to find a supportive healthcare team that is willing to listen, validate your experiences, and collaborate on a comprehensive management plan.

Next Steps

1. Continue Monitoring Symptoms: Keep a detailed diary of your symptoms, triggers, and responses to various treatments (like colchicine). Note patterns regarding what may exacerbate or alleviate your symptoms. This information can be a valuable resource during your consultations with specialists.

2. Prepare for Your Referral: As you wait for your appointment with an autoinflammatory expert, consider formulating specific questions or topics to discuss, particularly focusing on the potential link between your HSD/hEDS and the autoinflammatory features you suspect.

3. Seek Support: If you're finding it challenging to communicate your concerns and needs with your healthcare providers, reaching out to support groups or community organizations (such as those focused on EDS or autoinflammatory diseases) could provide you with advocacy tools and emotional support.

4. Approach Your Care Team Confidently: When discussing your condition, be assertive yet open. Express your understanding of your complex situation, share insights from your symptom diary, and communicate your willingness to work collaboratively to explore possible diagnoses, including CAPS.

Remember, you're not alone in this journey, and maintaining open, honest communication with your healthcare providers is key to finding a path that enriches your quality of life. Take care.