Year-long Pursuit of Diagnosis: Do Recent Findings Illuminate a New Direction? (Elevated Ferritin, Brain Volume Loss + Eosinophil Count)
I am a 30-year-old assigned female at birth, standing at 5'2" and weighing 120 lbs, a non-smoker in search of clarity. For over a year, I have been grappling with various debilitating symptoms including muscular weakness, wasting, drooping facial features, balance issues, fatigue, visual disturbances, faintness, reduced appetite, and cognitive fog. My journey has taken me through consultations with multiple specialists: an allergist, ENT, gastroenterologist, neurologist, rheumatologist, endocrinologist, pulmonologist, long COVID expert, and nephrologist. The testing revealed that I have non-hypothyroid Hashimoto's with nodular hypervascular goiter, mild obstructive sleep apnea, and I’ve been collaborating closely with a neurologist to pinpoint the cause of my muscular difficulties. Although extensive antibody tests and whole exome sequencing yielded negative results, my neurological evaluations, including a single-fiber electromyography, were also inconclusive. The only notable finding was myofiber atrophy with lipid buildup from a muscle biopsy, but this is considered non-specific. After experiencing persistent proteinuria, I was referred to a nephrologist, but by the time my tests were conducted, the proteinuria had resolved, and I didn't follow up due to restrictive insurance coverage. Last year’s lab results showed decreased complement 4 levels, a low positive ANA, and low immunoglobulin A (IgA). I also have hEDS, and during a recent health decline, I was diagnosed with inappropriate sinus tachycardia, with heart rates surging to 190 bpm with minimal exertion, an issue I had not encountered prior. Currently, I am prescribed Corlanor for tachycardia, low-dose naltrexone, and Mestinon to alleviate both weakness and facial drooping, which I respond to favorably. Additionally, I take medications for ADHD. Historically, I have been on various treatments including lithium and gabapentin when misdiagnosed with bipolar disorder, but have stabilized on my current regimen for several years. In the latest blood tests conducted for my routine check, we discovered elevated ferritin levels (250 with the upper limit being 150) and an increase in eosinophils (14% and 0.8). An MRI and cervical spine scan were performed to update my neurologist on last year’s images, revealing mild generalized parenchymal volume loss and mucosal thickening in my sphenoid sinuses. Although I understand that eosinophils can correlate with allergies, my allergist found I had minimal reactivity to certain indoor allergens, leading her to doubt their relevance to my experience. My healthcare team now theorizes that my results stem from an autoimmune condition but seem to have lost focus on identifying the underlying cause of this autoimmunity. As a PhD student, my symptoms severely disrupt my daily life and academic obligations, leaving me eager to gather enough information to initiate some form of treatment. Without taking Mestinon four times daily, my face exhibits signs of distortion, and I suffer from constant photophobia, eye pain, persistent nausea, and extreme weakness, significantly impacting daily productivity. Most days, I can only manage short work sessions, and often I am unable to work at all. Considering my situation, I can't help but feel that the findings might hold significant relevance; however, I am at a loss regarding what further tests might be necessary. Could I be experiencing symptoms of Hashimoto's encephalitis or a genetic metabolic disorder? My endocrinologist has mentioned the possibility of low cortisol levels, for which I will undergo testing this Friday morning. However, if those results come back normal, I am uncertain about the next steps. I have undergone numerous tests, and while I do not intend to outline every excluded possibility here, I am open to providing additional details in the comments if needed.
Answers (1)
4/2/2025, 10:20:48 PM
OpenHealth AI
It sounds like you are navigating a complex and challenging health situation with many symptoms and findings. Your symptoms and lab results point towards multiple potential underlying issues, particularly with autoimmune conditions, and it is understandable to feel overwhelmed. Let's break down your current situation and consider actionable steps moving forward.
Main Points:
- Elevated Ferritin and Eosinophils: These could indicate inflammation or an autoimmune process.
- Neurological Symptoms and Myofiber Atrophy: This might be relevant for understanding the muscular weakness and other neurological signs.
- Exploration for Underlying Conditions: A focused approach may be beneficial, especially regarding autoimmune disorders or potential genetic conditions.
Explanation:
- Elevated Ferritin: High ferritin can be associated with inflammation or an autoimmune process. It often indicates an underlying condition rather than a problem itself.
- Eosinophils: An increased eosinophil count can relate to allergies, but it can also occur in autoimmune diseases or certain infections. The low reactivity to allergens suggests the eosinophilia may have other origins.
- Neurological Symptoms: Your muscle biopsy results and neurological evaluations being non-specific means that while they didn't provide a conclusive diagnosis, they point to muscular or potential central nervous system involvement.
- Hashimoto's Disease: As you have Hashimoto's thyroiditis, symptoms such as cognitive fog, extremity weakness, and muscle atrophy could be linked to metabolic changes or thyroid hormone fluctuations.
Next Steps:
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Follow-Up on Low Cortisol Testing: Testing for low cortisol levels is critical as it can significantly influence your overall health, especially when associated with autoimmune conditions. Monitor those results closely and discuss them thoroughly with your endocrinologist.
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Consider Comprehensive Autoimmune Panels: If not done already, testing for additional autoimmune markers (such as anti-NMDA receptor antibodies or myelin basic protein for neurological symptoms) could provide insights. Discuss the potential for conditions like Hashimoto's encephalitis or other less common autoimmune diseases with your neurologist.
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Genetic Testing for Metabolic Disorders: Given your symptoms and atypical lab results, consulting a geneticist for in-depth genetic investigations might uncover rare metabolic conditions or syndromes, especially if symptoms persist despite treatment.
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Symptom Management and Support:
- Continue with Mestinon as it significantly improves your symptoms. Ensure you are taking it consistently as prescribed.
- Monitor your nutritional intake, focusing on foods rich in iron, omegas, and antioxidants to support your overall health.
- Maintain hydration and consider working with a nutritionist if dietary management is challenging.
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Documentation and Communication: Keep a detailed symptom diary, noting any correlating factors (diet, stress, medication changes) that could help guide your healthcare team in diagnosing or adjusting treatment.
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Holistic Approach: If feasible, explore support options for mental well-being, such as therapy or support groups, given the toll your chronic symptoms can take on your emotional health and daily functioning.
Your situation is complicated, and it feels incredibly challenging, but these focused steps might help clarify the underlying causes and lead to more effective management of your symptoms. Do take care of yourself and reach out for further personalized resources if needed.
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