Complex Bone Density Decline in a Pre-Menopausal Female
A 37-year-old female, weighing 145 pounds and standing at 5 feet 3 inches, presents with a multifaceted medical history including diagnoses of autism (level 1), combined-type ADHD, medullary sponge kidney, and a normal immunodeficiency disorder characterized by typical B cell functionality. The primary concern is notable bone density reduction, seemingly originating from factors unrelated to parathyroid hormone (PTH), vitamin D, or calcium levels. Lab results showed normal readings for these elements across a year during which the patient exhibited a decline of 3.4% in hip bone density and 2.4% in the left forearm. This bone density evaluation spanned from May 2024 to May 2025. The patient experiences regular menstrual cycles, though occasionally delayed. The bone density decline is affecting dental health, leading to tooth fractures without the financial means for repair. Additionally, the patient's renal condition is exacerbated by this bone loss, which ultimately poses risks to overall skeletal health. Consultations with specialists have proven unproductive. The urologist has indicated that current treatment modalities for recurring urinary tract infections (as frequent as two to three monthly) have reached their limits, after exhausting options, including Methenamine. A referral to urogynocology was denied, suggesting the patient continue with urological care, which has yielded little support. An endocrinologist has also reviewed the case but is recommending a surgical intervention whose efficacy in addressing the bone density issue remains uncertain, especially since a bone scan indicated normal results despite existing concerns. The patient had previously recorded low estrogen levels in January 2024 and has received a diagnosis of polycystic ovary syndrome (PCOS), but no subsequent estrogen testing has occurred, despite abnormal alkaline phosphatase and bone-specific results being documented. The urologists have dismissed ongoing concerns, despite 24-hour urine analyses suggesting calcium loss is not due to PTH, vitamin D deficiencies, or low fluid intake. In fact, one urine test yielded 1.5 liters with elevated sodium and calcium, while another test had nearly 3 liters of urine wherein the calcium levels continued to rise, although sodium levels normalized. Following this, a second DEXA scan revealed significant bone density loss, indicating an elevated bone turnover rate. This condition is undoubtedly complicating the ongoing struggles tied to the medullary sponge kidney diagnosis. The patient's situation is pressing as she is a mother of four, grappling with constant illness and discomfort. With concerns about possibly losing her state health insurance, she fears being unable to secure further essential testing or treatment. Immediate intervention and support are crucial to prevent deteriorating health conditions and to manage existing ailments effectively.
Answers (1)
7/17/2025, 9:50:49 PM
OpenHealth AI
Your situation involves complex health challenges, particularly regarding bone density loss, which is understandably concerning given your role as a mother and the other health conditions you're managing. It's clear that you're looking for effective ways to stabilize your bone health, address urinary issues, and ensure you can continue receiving the necessary care.
Key Points:
- You've noted a significant decline in bone density, but typical causes related to hormone levels, vitamin D, and calcium have been ruled out.
- Your renal condition complicates matters, especially with the added risk of fractures affecting your dental health and overall well-being.
- Navigating your health care—especially with potential loss of health insurance—becomes increasingly critical.
Explanation:
Bone density reduction at your age is concerning, especially since you have normal levels of vitamin D, calcium, and parathyroid hormones. It's important to investigate other factors that could be contributing to this decline.
Given your history of PCOS and low estrogen levels, estrogen plays a crucial role in maintaining bone density. Fluctuating hormone levels can significantly impact bone health, especially if estrogen is lower than optimal. Elevated bone turnover might indicate that your bones are being broken down faster than they can be rebuilt, which could explain the density loss observed.
Next Steps:
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Follow-Up on Hormonal Evaluations:
- Request an estrogen level test and consider a comprehensive hormone panel, including testosterone and other related hormones, to assess your hormonal balance. This could provide insight into potential treatment options like hormonal therapy.
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Lifestyle Adjustments for Bone Health:
- Focus on a bone-healthy diet rich in leafy greens, lean proteins, and fortified foods. Make sure to include foods high in magnesium and potassium, which support bone health.
- Aim for weight-bearing exercises (like walking, dancing, or strength training) if manageable. These can help strengthen bones and improve overall health.
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Address Nutritional Needs:
- Consider supplements, such as calcium and magnesium, as advised by a healthcare professional, focusing on dosage suitable for your needs given your renal condition.
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Review Medical Support Options:
- You might explore local clinics or community health services that offer sliding scale payments. They can provide access to necessary tests and consultations at reduced costs if you lose your health insurance.
- Keep advocating for your health: find a general practitioner who will help coordinate between specialists and provide comprehensive care tailored to your needs.
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Consider Support for Urinary Issues:
- Since persistent urinary issues can also affect your health, maintaining a routine with available over-the-counter products that may provide comfort is essential. Consult with your current urologist about potential alternatives or supportive therapies (like dietary changes) that can alleviate these issues.
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Monitor & Document Health Changes:
- Keep a diary of symptoms, dietary intake, exercise, and hormonal changes. This can be beneficial for future consultations and to track your health over time.
Your concerns and experiences are valid, and by taking these steps, you can gain more control over your health situation. Please continue to prioritize your well-being and reach out for support from friends, family, or support groups. If you have further questions or need more specific advice, 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:** - 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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.