Unidentified Illness – Seeking Solutions as Doctor Struggles
I’m a 32-year-old female experiencing a series of baffling health problems that my general practitioner has been unable to diagnose. Over the past six weeks, I've experienced three distinct "flare-ups," each progressively worsening. Presenting symptoms include intense body pain, extreme fatigue, pronounced weakness, chills, and night sweats—though the sweats do not occur every night. Additionally, I've faced heart palpitations, but I have not experienced fever, localized pain, cuts, or rashes. My gastrointestinal system is mostly functioning well with just a general sense of nausea and no pain during urination. My bowel movements are regular, and there’s been no blood in my stool or any conspicuous lumps on my body. I’ve also had no recent exposure to mosquitoes or ticks and have not left Brisbane in the last four months, nor have I traveled abroad. The onset of the first flare was unexpected, beginning on May 21 and lasting until May 27. The second flare initiated on June 11 and continued until June 24, with symptoms that were notably worse than the first. The third flare began on June 30 and is still ongoing as of July 2, but this instance hit me much harder and more suddenly; I genuinely feel like I’m at my breaking point. During the first flare, no tests were conducted, and my doctor attributed it to a viral infection. For the second flare, a series of tests were performed, including a full blood count (FBC), C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), HIV, liver and electrolyte function tests (E/LFT), and tests for Epstein-Barr virus (EBV) and cytomegalovirus (CMV). The results showed a CRP level of 52, ESR of 29, white blood cell count (WBC) at 13.9, neutrophils at 80% with a level of 11.1, and a hemoglobin count of 112. All other test results were within normal ranges. A chest X-ray and an ultrasound of my neck's lymph nodes also returned normal results. Despite a thorough autoimmune panel—including tests for ANA, ENA, HLA-B27, C-ANCA, P-ANCA, Anti-CCP antibodies, lactate dehydrogenase (LD), and creatine kinase (CK)—all results were deemed normal; this testing was influenced by my mother’s history of rheumatoid arthritis. Today, I underwent repeat blood tests (excluding the autoimmune panel), which included additional assessments for BFV antibodies, RRV antibodies, U-MCS, blood cultures, malarial parasites, magnesium, thyroid function tests (TFT), and iron studies. Furthermore, I've been referred for a crucial pan-scan, which entails a CT scan of my chest, abdomen, and pelvis using contrast material. My doctor mentioned that if the pan-scan yields normal results, he would refer me to a hematologist, unless any of the viral assay tests indicate positive results (such as Ross River virus). Does anyone have insights? Are there other tests that I should consider requesting? Background: I have a medical history that includes hypermobile Ehlers-Danlos Syndrome (hEDS), polycystic ovary syndrome (PCOS), pelvic congestion syndrome, and thyroiditis, which was detected via ultrasound in May although blood tests returned normal values.
Answers (1)
7/2/2025, 5:10:50 AM
OpenHealth AI
Main Points: It sounds like you're dealing with a complex set of symptoms that have not yet been clearly diagnosed. Your recent tests and upcoming scans will be critical in understanding your situation better. Here are some steps to consider moving forward.
Explanation: You've been experiencing significant symptoms including intense body pain, fatigue, chills, and heart palpitations without clear answers from previous tests. This uncertainty can be very frustrating, especially when your body feels like it's not functioning normally. Testing has shown inflammation markers, but nothing definitive has come back yet. The fact that you have a history of health issues like hypermobile Ehlers-Danlos Syndrome, PCOS, and thyroiditis complicates the picture, but these may also be influencing your symptoms.
It’s positive that your doctor has performed a range of tests already and is considering further assessments with the pan-scan. This will help rule out many potential underlying causes.
Next Steps:
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Stay Informed: Once you receive results from the pan-scan, take time to discuss them thoroughly with your doctor. Understanding what's normal vs. abnormal can help guide further steps.
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Monitor Your Symptoms: Keep a detailed log of your flare-ups, noting triggers, symptom severity, and duration. This information can be valuable in identifying patterns or links to specific conditions.
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Consider Additional Factors: Discuss with your doctor the possibility of chronic fatigue syndrome or fibromyalgia, especially since your symptoms include fatigue and widespread pain. Observing your response to treatments for these conditions could be informative.
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Nutrition and Hydration: Focus on a balanced diet rich in whole foods, vegetables, fruits, and adequate hydration, which might help support your body during these flare-ups.
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Supportive Therapies: Gentle exercises such as yoga or swimming may help manage pain and improve overall well-being, particularly with your existing conditions like hEDS.
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Rest and Self-Care: Make sure to rest adequately during flare-ups and prioritize self-care activities that promote relaxation and stress relief.
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Consider Specialist Referrals: If no conclusive diagnosis emerges, discuss with your doctor the potential need for referrals to specialists in infectious diseases, rheumatology, or pain management depending on what the results suggest.
Your situation is complex, but with the ongoing investigations and your proactive approach, there’s hope for clearer answers and effective management of your symptoms. Let me know if you have more questions or need clarification on any point.
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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.