Understanding Symptoms and Tumor Markers
Hello everyone! I’m a 28-year-old female and for the past eight months, I’ve been experiencing various troubling symptoms: - Significant weight loss (15 pounds within a single month) - Frequent fevers at night - Flushing of the face (feel like burning) - Sudden bouts of diarrhea with no prior warning or cramps - Episodes of intense tachycardia - Respiratory issues including wheezing, chest discomfort, profound weakness, fatigue, and a persistent cough (so debilitating that I struggle to lift my toddler or walk without needing frequent breaks) - Occasional hand tremors - Enlargement of lymph nodes in the armpit - Random anemia that began about a year ago Additionally, I have been enduring severe spinal pain continuously for close to three months; the discomfort is dull throughout the day but excruciating at night and in the morning. Pain relief medications like Advil and Tylenol do not provide any relief. An MRI of my lower spine revealed new findings of scoliosis (previously undiagnosed), disc dehydration, narrowing of the neural foramina, hypertrophy, and osteophyte formation, although the cause remains unclear. In June 2024, a chest CT scan indicated ground glass opacities while investigating why my pneumonia— for which I was hospitalized— was not improving. A subsequent CT scan detected a small nodule on my upper right lung measuring 4mm. A PET scan has been ordered, and I’m currently awaiting insurance approval. I’m under the care of various specialists, including a pulmonologist, cardiologist, primary care physician, hematologist, a family friend who is a doctor, a rheumatologist, and now an orthopedist. Recognizing the stark contrast to my usual high energy levels, my primary care physician has finally decided to conduct tumor marker testing after months of these escalating symptoms that have left me feeling quite unwell. Here’s a summary of the numerous tests performed thus far: - Complete Blood Count (CBC) - Specific and general autoimmune tests - Lead levels - Ammonia levels - Mold exposure testing - Thyroid T4, which was low - A1C (blood sugar control) - Hormonal panels - Tests for COVID, influenza, strep, and RSV - Levels of IGG, IGA, IGM - Low iron and ferritin levels, though iron was corrected - Electrophoresis indicating slightly elevated albumin and alpha-2 globulin, with low gamma globulin - Satisfactory Vitamin B12 levels - Tumor markers - 5 HIAA urine test (results pending) - Chromogranin A (results pending) - Calcitonin (results pending) - Metanephrines (results pending) I recently received some results for a tumor marker test, revealing that my CA 27.29 is elevated at 53. Surprisingly, I’m not feeling particularly disheartened, as I’ve been advocating for my health for months and feel we are finally inching closer to answers. I would really appreciate any insights regarding what I should consider next and what these findings might signify. My pulmonologist has mentioned the possibility of sarcoma, but considering my array of symptoms, I'm uncertain about the originating source. While all medical professionals have focused on my lungs, the CT scan only showed that small nodule. My primary care doctor suspects a carcinoid tumor, but I also underwent a breast ultrasound due to a lump and swollen lymph nodes, which necessitated an immediate mammogram despite my young age, as the findings raised concerns. I’m experiencing breast leakage and nipple inversion, along with lumps that are thought to be dense—though now I’m uncertain about their nature. I’d love any guidance on how to proceed with my health advocacy and continue the search for answers.
Answers (1)
3/29/2025, 4:50:45 AM
OpenHealth AI
Your symptoms are complex and concerning, and I commend your proactive approach to advocating for your health. You're experiencing a combination of significant symptoms and diagnostic tests, which can understandably be overwhelming. However, it's important to work through these findings systematically to find answers and support your health.
Summary of Main Points:
- Elevated tumor marker (CA 27.29) indicates possible malignancy but is not definitive for diagnosis.
- Multiple symptoms, including weight loss, respiratory issues, and lymphadenopathy, warrant careful evaluation for underlying conditions, including potential tumors.
- Ongoing tests will clarify possible diagnoses, including the pending results for various tumor markers and imaging studies.
Explanation:
Your elevated CA 27.29 could be associated with breast cancer, among other conditions, but it's not specific and can be elevated in benign conditions as well. Given your symptoms and the fact that you have a lump, swollen lymph nodes, and recent breast concerns, the investigation into potential malignancies is crucial. The presence of ground-glass opacities in your lungs along with the nodule may raise suspicion for various conditions including infections, inflammatory processes, or malignancies, such as carcinoid tumors as considered by your doctor.
Next Steps:
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Continue Monitoring and Patience: While waiting for the results of your tumor marker tests, it's essential to remain vigilant about any changes in your symptoms. Keep a daily log of symptoms, including severity, new developments, and how they affect your daily life. This will be helpful for your doctors.
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Communicate Openly with Your Medical Team: Share all your symptoms and concerns with your healthcare team, ensuring they are on the same page regarding your current state and the urgency of your situation. Bring up the potential causes mentioned by each specialist to ensure comprehensive care.
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Prepare for Upcoming Tests: Given the complexity of your case, it's wise to gather any additional health information or history from family members, which may assist your team in diagnosis. Discuss any potential hereditary concerns, especially regarding cancer.
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Self-Care and Support: Focus on maintaining a balanced diet and managing stress, as your physical and mental health are crucial during this diagnostic period. Reach out to support networks or mental health professionals if feelings of anxiety or uncertainty arise.
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Follow Up on Imaging: Once your PET scan is approved and completed, ensure you follow up promptly to discuss results and next steps. This will provide vital information about any metabolic activity in the lung nodule and other areas of concern.
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Stay Informed: Educate yourself on the symptoms and markers related to the potential conditions discussed (carcinoid tumors, sarcoma, etc.), so you can engage knowledgeably with your doctors about what to expect moving forward.
Your determination to seek answers is commendable, and remaining proactive in your health management is key during this challenging time. Please remember that reach out at any moment if you need more clarifications or specific support.
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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:** - 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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.