Exploring Potential Diagnoses: My Experience with Joint Pain and MRI Insights
At 24 years old, weighing 89kg and standing at 176cm, I come from the Arabian Gulf region. Over the years, I have endured persistent discomfort in my lower back, spine, and various joints. I also have a history of hypothyroidism, managed with a 50mcg dosage of levothyroxine. I do not smoke, drink alcohol, or engage in illicit drug use. I have a significant family background of autoimmune ailments: my father has psoriatic arthritis (PsA) and psoriasis (PsO), while my mother suffers from autoimmune hepatitis and Hashimoto's disease. My maternal lineage is heavily affected, with all eight of my aunts affected by Hashimoto's thyroiditis. My battle with lower back pain began in 2017, initially localized on the left side. Since then, it has progressively worsened, and by 2020, I began experiencing pain in my right lower back as well as my left knee, elbows, and wrists. Over these five years, more joints have become affected, particularly the smaller joints in my hands and feet. I've also experienced tenderness in my left ribs, and overall joint pain has become a significant issue. My posture has deteriorated notably, exhibiting classic signs of inflammatory arthritis, such as relief with movement and morning stiffness. While I have not experienced dactylitis or notable swelling in my joints, the pain and stiffness are markedly severe. My lower back pain is particularly crippling, accompanied by extreme fatigue that isn't psychological in nature; on some days, I struggle to perform simple tasks such as shaving. Starting in 2023, I developed diarrhea (which persists), alongside episodic symptoms like a burning feeling in my left eye, itchiness, light sensitivity, and pain behind my eye. This condition marked my first encounter with headaches occurring primarily in my left eye, and occasionally alternating to the right. Additionally, I am grappling with plantar fasciitis in both feet and pain in my left Achilles tendon, alongside a general malaise resembling flu-like symptoms. Interestingly, my joint pain mirrors that of my father, though our symptoms differ; he predominantly reports discomfort in his ribs and neck, whereas my complaints involve my lower back and various peripheral joints. My symptoms suggest a broader joint involvement, which I find noteworthy. After ruling out inflammatory bowel disease through endoscopic procedures, my tests, including RF and Anti-CCP, returned negative. Furthermore, I tested negative for HLA-B27. To my surprise, I found remarkable relief using Celecoxib 200mg twice daily, which alleviated most symptoms in just 24 hours, potentially obscuring the inflammation seen in my sacroiliac joint (SIJ) MRI—this was under evaluation prior to treatment, so many symptoms abated except for the persistent diarrhea and worsening plantar fasciitis. My rheumatologist has clinically diagnosed me with undifferentiated spondyloarthritis (SpA) until further assessment. However, my MRIs indicated no signs of inflammatory back pain according to radiologist evaluations. My doctor chooses to disregard this radiological assessment, leaving me feeling uncertain, as my clinical signs and family history are my only supporting evidence—my inflammatory markers are also within normal ranges, with the sole exception of a positive ANA at a 1:640 titer, while all other connective tissue disease tests returned negative. What perplexes me is that both radiologists produced succinct reports that do not reflect anomalies I feel exist. Although I lack radiological training, I am convinced there are notable changes. In summary, the radiologists concluded that the SIJ scan appeared normal without chronic alterations, while the full spine MRI revealed degenerative disc disease, mild scoliosis, multiple herniated discs, and annular tears. Though the lumbar pain is minimal, I experience bilateral SIJ and buttock pain radiating to my thigh, coupled with cervical and thoracic discomfort, and tenderness in one rib near my left nipple. It’s worth mentioning that I have mild scoliosis, which, in my opinion, doesn’t account for the excruciating pain I endure—this condition emerged after my symptoms began. I've numbered the MRI slices for easy reference if needed.
Answers (1)
3/28/2025, 1:10:46 AM
OpenHealth AI
Your experience with persistent joint pain and related symptoms is complex and understandably troubling. Given your family history of autoimmune diseases, your clinical diagnosis of undifferentiated spondyloarthritis (SpA), and your symptoms, it's essential to address your concerns thoughtfully. Here’s a structured way to evaluate and manage your situation:
Main Points
- You exhibit symptoms consistent with inflammatory arthritis related to spondyloarthritis.
- Your family history indicates a potential autoimmune component, which may play a role in your symptoms.
- MRI findings show degenerative changes, while clinical signs persist despite radiological reports indicating no inflammatory activity.
Explanation
It seems that your situation involves a mix of chronic pain due to joint and possibly musculoskeletal issues, along with a potential inflammatory component. The presence of joint pain, fatigue, and your family background all suggest that monitoring and management are key, even in the absence of definitive MRI proof of inflammation.
Your response to Celecoxib indicates an inflammatory process might be present, even if it isn’t fully captured in your imaging. The connection between your symptoms, family history, and the diagnosed condition suggests that ongoing evaluation is important, especially considering the progressive nature of your symptoms and the painful experiences you've described, such as the plantarfascitis and other musculoskeletal complaints.
Actionable Next Steps
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Symptom Diary: Start keeping a detailed record of your symptoms—note when they occur, their severity, and any patterns related to activity, diet, or medication. This diary can be very helpful in discussions with your healthcare provider.
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Regular Follow-Up: Schedule regular follow-ups with your rheumatologist to monitor your symptoms and response to treatment. Be open about your concerns regarding the discrepancy between clinical findings and radiological assessments.
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Consider Additional Specialists: Since you also experience eye-related symptoms and gastrointestinal dysfunction, consulting with an ophthalmologist for the eye discomfort and a gastroenterologist for the ongoing diarrhea may provide further insights and relief.
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Physical Therapy: Inquire about a tailored physical therapy program to address your back pain, improve posture, and manage the symptoms related to plantar fasciitis. Exercises that focus on strengthening core muscles and maintaining flexibility can help alleviate some pain.
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Manage Pain and Monitor: While you’ve found relief with Celecoxib, ensure you’re also incorporating non-medication strategies such as heat therapy, gentle stretching, and appropriate rest to manage your pain.
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Consider Lifestyle Adjustments: Focus on a balanced diet, maintaining a healthy weight, and low-impact exercises (like swimming or cycling) to help manage symptoms systematically without exacerbating joint pain.
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Research Support Groups: Connecting with individuals who experience similar symptoms can provide emotional support and practical coping strategies.
Conclusion
Your condition requires attentive management and collaboration with healthcare providers. The combination of persistent symptoms, family history, and initial medications all indicate an ongoing process of evaluation and adaptation. Keeping track of your symptoms and health changes will empower you in your discussions with your healthcare team. You are not alone in navigating this journey; many resources and strategies can assist you in finding relief and understanding your condition better. If you have further questions or wish to discuss specific aspects of your treatment, feel free to ask.
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# 7-Month-Old Child with Abernethy Malformation - Exploring Treatment Options ## [7-Month-Old] Identified with Abernethy Malformation (Congenital Portosystemic Shunt) - Treatment Methods? **Age:** 7 months **Gender:** Female **Height:** Age-appropriate **Weight:** Currently 9 kg, was 2.8 kg at birth **Ethnicity:** Asian **Duration of Symptoms:** Present since birth **Location:** Uzbekistan **Pre-existing Health Issues:** Abernethy malformation (congenital portosystemic shunt), liver hemangiomas, chronic jaundice, anemia **Current Treatments:** Supportive management --- ## INITIAL PRESENTATION (June 2025 - July 2025) Our daughter arrived on **June 27, 2025**, presenting with: - Birth weight: **2.8 kg** - Marked jaundice (yellowing of skin and sclera) - Pale or clay-colored stools - **Bilirubin level: 245 μmol/L** (typically <20) An immediate ultrasound indicated multiple liver anomalies, initially thought to be hemangiomas. --- ## FIRST COMPREHENSIVE ASSESSMENT (August 1, 2025 - 1 Month Old) ### Multislice Computed Tomography (MSCT) with 3-Phase Contrast (August 1, 2025): **RESULTS:** - **Portocaval shunt size: 9.9 mm** (blood bypassing the liver into the inferior vena cava) - **Arteriovenous shunt size: 4.4 mm** - **Portal vein size: 6.1 mm** (patent) - **Three nodular cystic lesions** located in the perivascular area, with largest measuring 11.6×20.7 mm, enhancing during the venous phase - Liver features a heterogeneous architecture, exhibiting irregular enhancement - Gallbladder appears elongated and slightly enlarged - Other abdominal organs exhibit normal findings **RADIOLOGIST’S ASSESSMENT:** "Congenital portosystemic shunt indicative of Abernethy malformation; less likely arteriovenous malformation (AVM); cannot dismiss the possibility of localized liver lesions." **ADVICE:** Seek consultations with an abdominal and vascular surgeon. ### Blood Tests (August 1, 2025): **Complete Blood Count:** - WBC: 10.44 × 10⁹/L (normal range) - **RBC: 2.1 × 10¹²/L** (LOW - indicating severe anemia) - **Hemoglobin: 69 g/L** (CRITICALLY LOW; normal is 117-166) - Platelets: 403 × 10⁹/L (elevated) **Biochemistry Analysis:** - Urea: 1.80 mmol/L (normal) - Creatinine: 33.4 μmol/L (normal) - **ALT: >1000 IU/mL** (EXTREMELY HIGH - severe liver dysfunction) --- ## FOLLOW-UP IMAGING (December 16, 2025 - 5.5 Months Old) ### Liver Ultrasound: **RESULTS:** - Right lobe: 64 mm, left lobe: 43 mm - Liver capsule appears irregular and vague - **Parenchyma: heterogeneous, showing 7 hypo-isoechoic nodules** (sizes range from 11.5×10.7 mm to 17.6×15.4 mm) - Capsule features uneven contours - Blood flow noted during Doppler examination - No dilation in intrahepatic bile ducts - **Portal vein: 3.9 mm** (decreased from 6.1 mm - indicating improvement) - Common bile duct: 1.4 mm - Gallbladder: measures 43.7×9.2 mm (pear-shaped, wall thickness 2.0 mm, homogeneous, free of stones) **ULTRASOUND ASSESSMENT:** "Presence of liver volumetric formations (specifically liver hemangiomas)." --- ## LATEST MSCT (February 6, 2026 - 7 Months Old) ### MSCT with 3-Phase Contrast: **FINDINGS:** - Liver remains normal in size, but shows heterogeneous structure with uneven contrast enhancement - 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WBC: 5.8 × 10⁹/L (SHOWS IMPROVEMENT) - **RBC: 2.93 × 10¹²/L** (IMPROVED but still low) - **Hemoglobin: 72 g/L** (SHOWS IMPROVEMENT but still low) - Platelets: 223 × 10⁹/L (BACK TO NORMAL) - Neutrophils: 30.0% - Lymphocytes: 64.8% - Monocytes: 4.6% ### Biochemistry (January 28, 2026): - Total protein level: 67 g/L (slightly deficient) - Creatinine: 20.7 μmol/L - **Total Bilirubin: 242 μmol/L** (STILL HIGH - unchanged) - **Direct Bilirubin: 142 μmol/L** (VERY HIGH) - **ALT: 50 IU/mL** (DRASTICALLY LOWER from >1000!) --- ## OVERVIEW OF PROGRESS OVER 6 MONTHS | Parameter | August 2025 | January 2026 | Change | |------------------|-------------|---------------|--------------------------| | **Hemoglobin** | 69 g/L | 72 g/L | ↗ Slight improvement | | **RBC** | 2.1 | 2.93 | ↗ Improved | | **ALT** | >1000 | 50 | ✓✓ MAJOR IMPROVEMENT | | **Bilirubin** | 245 | 242 | → Unchanged (still elevated) | | **Portal vein** | 6.1 mm | 3.9 mm (US) | ↗ Decreased | | **Platelets** | 403 | 223 | ↘ Normalized | | **Shunt size** | 9.9 mm | 9.9 mm | → No Change | --- ## CURRENT SITUATION (February 2026 - 7 Months Old) - **Weight:** 9 kg (good growth rate in spite of condition) - **Jaundice:** Continues to be present (yellow skin) - **Stools:** Remain pale/clay-colored - **Development:** Achieving appropriate milestones - **Energy:** Appears to have a good energy level - **Feeding:** Normal appetite --- ## QUESTIONS FOR r/AskDocs We have been informed this is **Type 2 Abernethy malformation** (portal vein present). **Three treatment avenues have been proposed:** ### Option 1: **Endovascular Coil Embolization** (minimally invasive approach) - A catheter is inserted via the leg vein to access the shunt and deploy coils/plugs to close the abnormal vessels - Pros: No surgical incision, minimal discomfort, short hospital stay (2-4 days), no scars, enhanced safety - Duration: 1-2 hours - Recovery: 2-4 weeks for jaundice to show improvement ### Option 2: **Open Surgical Intervention** - An incision in the abdomen to ligate abnormal vessels and redirect blood to the liver - Pros: Direct visualization, effective results - Cons: Surgical scar, longer recovery time (7-14 days in hospital) - Duration: 2-4 hours ### Option 3: **Liver Transplantation** - We have been advised this is not necessary as the portal vein is functional and liver health is improving. --- ## SPECIFIC QUESTIONS TO CONSIDER: 1. **With a functional portal vein (6.1 mm) and improving liver function (ALT normalized), is it advisable to pursue endovascular closure as the preferred treatment?** 2. **Despite ALT levels improving, the bilirubin remains consistently high (242). Should this be a cause for concern? Is there a prospect for it to normalize post shunt closure?** 3. **Are the hemangiomas/nodules (11.6×20.7 mm) linked to the shunt? Will they likely resolve following shunt repair?** 4. **How urgent is the proposed intervention? Is immediate action required, or is there flexibility to wait a few months?** 5. **What complications should we be vigilant for during the waiting period?** 6. **Regarding endovascular closure - what is the average success rate for infants aged 7 months? Are there concerns regarding the shunt size (9.9 mm)?** 7. **The measurement of the portal vein has shown improvement from 6.1 mm to 3.9 mm; should this be perceived as a positive sign or a reason for concern?** 8. **Are there special directives (diet modifications, medications) we should consider while awaiting the procedure?** 9. **Post-procedure, how long should we expect it might take for:** - Normalization of bilirubin levels? - Return of stool color to normal? - Resolution of jaundice? - Regression of hemangiomas? 10. **Can you recommend any specialized centers for pediatric Abernethy malformation treatments? We are located in Uzbekistan but are prepared to travel (to Turkey, Russia, South Korea, etc.)** --- ## ADDITIONAL INFORMATION - No family history of hepatic diseases - Pregnancy and delivery were normal - No additional congenital defects identified - Immunizations up to date - No history of bleeding disorders - No signs indicative of encephalopathy - Child is alert and engaged --- **I can supply actual MSCT images and comprehensive lab reports if they would be of assistance.** We sincerely appreciate any insights you can provide. We are striving to make the most informed decision regarding our daughter’s care and highly value expert medical opinions. **TL;DR:** 7-month-old diagnosed with Abernethy Type 2 malformation (9.9 mm portocaval shunt, patent portal vein). Liver functionality is improving (normalized ALT) while bilirubin remains elevated (242). Evaluating options between endovascular coil embolization and open surgery. Seeking expert advice on optimal treatment strategy and timing.