Understanding Lynch Syndrome and Family Cancer History
I am a 39-year-old woman, standing at 5'11" and weighing 200 pounds, with no ongoing medications or prescriptions to speak of. Although my health is generally stable, my physician had reservations regarding the possibility of endometrial cancer, a concern that was ultimately ruled out with negative test results. Cancer runs in my family, and the premature deaths we’ve experienced weigh heavily on me. Most recently, my brother succumbed to pancreatic cancer at the young age of 42. My father passed away from colon cancer when he was just 50, and my mother died at 49 due to complications related to heart issues and pneumonia—though I can't fully confirm the details since I'm left without anyone to discuss this with. Additionally, my grandmother battled breast cancer, while two of my uncles faced brain cancer, and I think stomach cancer may also be a factor in my family's medical history. Navigating the healthcare landscape in my country has proven to be quite challenging. I'm unable to seek further clarification on my relatives' health challenges due to the loss of contacts. I’m interested to know whether there are specific blood tests or screenings that would be advisable for someone in my situation. As I research familial links to cancer, I often come across Lynch syndrome, but I feel uncertain about how best to proceed from here.
Answers (1)
8/15/2025, 8:11:43 AM
OpenHealth AI
It's understandable to feel concerned given your family's history with cancer and your recent health worries. Lynch syndrome is indeed a hereditary condition that can increase the risk for certain types of cancers, including colon, endometrial, and others. Here's a clearer breakdown of your situation and actionable next steps:
Key Points:
- Family History and Lynch Syndrome: Your family history of various cancers raises valid concerns about genetic predisposition, particularly Lynch syndrome.
- Screening Recommendations: Given the multiple cancer diagnoses in your family, certain screenings and genetic tests may be beneficial.
- Accessing Healthcare: Navigating healthcare can be challenging, but there are ways to pursue further information and screenings that can help.
Explanation:
- Lynch Syndrome: This condition is often due to inherited mutations that affect DNA repair. Those with Lynch syndrome have a higher risk for several cancers and should consider more proactive screening starting at an earlier age than the general population.
- Importance of Family History: While individual risk assessments can vary, a strong family history of cancers, particularly at younger ages, can justify discussions around genetic testing and regular screenings.
Next Steps:
-
Consider Genetic Counseling: If possible, seek out a genetic counselor. They can provide insights specific to your family history and help you understand the relevance of Lynch syndrome in your case. This specialist can determine if testing for Lynch syndrome is appropriate for you based on your family’s cancer history.
-
Cancer Screening Guidelines:
- Colonoscopy: If you haven't had one, consider starting regular screenings for colon cancer, especially given your father's history. The general recommendation for individuals with Lynch syndrome is to begin at age 20-25 or 2-5 years earlier than the youngest colon cancer diagnosed in your family.
- Endometrial Cancer Screening: For women at elevated risk, considering transvaginal ultrasound or endometrial biopsy could be beneficial, although this might require a doctor’s recommendation.
- Other Screenings: Discuss with your healthcare provider about potential screening for other cancers relevant to your family history (e.g., breast cancer screening).
-
Research and Documentation: If you can gather any documentation or information about your family's health history, it will help your healthcare providers assess your risks better. Even if it's difficult to find contacts, try to document what you do know.
-
Establish a Medical Provider Relationship: Finally, developing a relationship with a primary care provider or oncologist familiar with hereditary cancer syndromes may help you gain access to necessary screenings and tests.
Taking these steps can empower you regarding your health and help you stay proactive about cancer risk. Remember that you're not alone in navigating these concerns, and there are healthcare professionals who can guide you through this process.
Related Questions
7-Month-Old Child with Abernethy Malformation - Exploring Treatment Options
# 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 - **Portocaval shunt: 9.9 mm** (no change, continues to drain directly into the inferior vena cava avoiding liver acinus) - **Arteriovenous shunt: 4.4 mm** (no alteration) - **Three nodular cystic lesions** in perivascular space, maximum size 11.6×20.7 mm, enhancing in the venous phase - **Portal vein: 6.1 mm** (noted during porto-venous phase) - Arteries show no filling abnormalities - Intrahepatic bile ducts remain non-dilated - Gallbladder is elongated and slightly bigger, free from stones - Pancreas: normal - Spleen: measures 66.9×38.5 mm (not enlarged), splenic vein is 3.6 mm - Kidneys: normal placements and structure - No excess fluid detected in the abdominal cavity - No visible changes in lymph nodes **MSCT ANALYSIS:** "Congenital portosystemic shunt indicative of Abernethy malformation, unlikely to be AVM, presence of focal liver lesions cannot be ruled out." **RECOMMENDATION:** Engage with an abdominal and vascular surgeon. --- ## RECENT BLOOD WORK (December 2025 - January 2026) ### Complete Blood Count (January 19, 2026): - 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.
Strange Jelly-Like Substance Observed from Wound
I’m a 21-year-old female living with an auto-inflammatory condition known as hidradenitis suppurativa (HS). Recently, I've experienced a concerning issue with one of my wounds. This particular wound causes significant pain and excessive bleeding. However, whenever I attend to it, I tend to find this unusual jelly-like substance present within it. Interestingly, this phenomenon has only occurred with this one wound and not any of the others I have. The bleeding seems to persist until I manage to remove this jelly substance, after which it typically slows down and comes to a halt completely. I’m seeking insights into what this might signify so that I can effectively discuss it with my healthcare provider.
Battling Chronic Nausea and Vomiting for Over Two Years
For the past two years, I (age 26, female) have been enduring an incredibly challenging health situation. I experience intense nausea daily and find myself vomiting numerous times, with almost nothing providing relief. To provide some background, I’m from West Texas and I currently weigh around 190 pounds, standing at 5’7”. Initially, my weight was about 211 pounds when these symptoms began, and it fluctuates frequently between 190 and 225 pounds. I engage in vaping and consume THC. Previously diagnosed with hypothyroidism, my condition seemingly resolved, according to my healthcare providers. Additionally, I have polycystic ovarian syndrome (PCOS). I have consistently faced irregular bowel movements, with stools that are loose and sometimes appear to have mucus. Compounding my struggles, I've also suffered from migraines. I have had an IUD for over five years, experiencing two insertions of the Kyleena device. In December 2022, my battle with health took a severe turn when I was diagnosed with stage 4 Hodgkin’s Lymphoma, requiring chemotherapy treatment, specifically AVBD (Apologies for not recalling the exact medication names). By July 2023, I had fortunately achieved remission. However, after reaching remission, my vomiting worsened, transforming from primarily white foam to a mixture of 80% bile, any food I attempt to consume, and still white foam. This intense vomiting, accompanied by significant pain in my upper back, escalated to more than eight episodes daily by November 2023. At that time, THC seemed to be the only avenue for me to retain any food. During this tumultuous period, I consulted various doctors who, after confirming I wasn’t pregnant, attributed my symptoms to Cannabinoid Hyperemesis Syndrome (CHS). Immediately, I ceased THC consumption for over six months, yet the vomiting continued unabated. Each time, doctors would prescribe ondansetron, regardless of my claims that it provided no relief. I experimented with various diets recommended by medical professionals, but there were no improvements in my condition. Eventually, I obtained a referral to a gastroenterologist who intended to perform an endoscopy. However, the procedure was prohibitively expensive even with insurance, and thus was never conducted. This doctor also ordered blood tests to rule out several gastrointestinal disorders, such as Crohn's disease, Irritable Bowel Syndrome (IBS), and gluten sensitivity, but all results came back normal. Afterward, I had another appointment with a different gastroenterologist, but the doctor failed to meet with me. Instead, a nurse informed me that the doctor had merely recommended promethazine without conducting any tests or scheduling further visits. When I mentioned the possibility of gallbladder issues, the doctor laughed dismissively at my suggestion. Discussing my situation with my oncologist, he suggested that my heightened sensitivity to food odors stemmed from my chemotherapy experiences while I was working in fast food. While food smells indeed affect me, I'm primarily triggered by medical scents such as rubbing alcohol and cleaning agents. This ongoing ordeal has been overwhelmingly distressing. I now experience episodes of vomiting accompanied by bright red blood, presumably due to a throat tear. When I first encountered this troubling symptom, I consulted a doctor who appeared unfazed and prescribed a promethazine suppository, which does help but makes me extremely drowsy. My nausea persists nearly around the clock, often feeling as if there’s a heaviness in the upper part of my abdomen. I frequent urgent care facilities when my symptoms intensify, only to be met with minimal assistance since this is a chronic issue. Currently, I lack a primary care physician. Whenever I sought one, I encountered skepticism regarding my condition, with some healthcare professionals implying that I was exaggerating my symptoms. Though many physicians who do take my situation seriously seem baffled, I've lost count of the diverse medical experts I've consulted about these ongoing issues. If anyone has insight or suggestions, I would genuinely appreciate it. I can share my latest bloodwork results if that would be helpful—just let me know!
24M | Unexplained Fainting Incident
**Note:** I previously shared this story, but it was inexplicably removed. I’m a 24-year-old male without any medical diagnosis or prescription medications. While I do consume alcohol occasionally, I hadn’t been drinking before this happened. Around 3 a.m., I got up from bed to use the restroom. As soon as I began to urinate, I suddenly felt a wave of dizziness. The next moment I was aware of was regaining consciousness in the bathtub, startled awake by the sensation of something dripping on me—only to discover it was my own blood. This was my first experience with fainting. When I came to, confusion set in. I was disoriented and couldn’t comprehend why I was being dripped on while in what I thought was my “bed.” Strangely, I also imagined that I was lying on a collection of marbles (which I actually don’t own)—this turned out to be the shattered glass of my shower door lying around me. I’m uncertain whether I lost consciousness first and then fell, or if the fall caused my brief blackout. It took me a few moments to understand why I was in the bathroom at all. I’m not sure how long I was out; I only remember it was around 3 in the morning when I initially got up, and about the same time when I regained consciousness. I dialed 911, and the ambulance arrived promptly. They checked my vitals, performed an EKG and measured my blood sugar, finding nothing unusual. At the emergency room, they repeated the vital checks, conducted a CT scan, drew blood, and took x-rays—yet still no abnormalities were detected. I had several cuts on my face and left arm (curiously, this is the arm that would have been turned away from the door), along with bruising around my ribs. Since the incident, I’ve been suffering from headaches and pain in my ribs. I received stitches on both my face and arm. The nurse suggested I could have stronger pain relief, but I opted for just Toradol. They eventually discharged me, stating, "We’re unsure what caused this, but return if it happens again." What might have triggered such an incident? How can I safeguard against it reoccurring if they remain uncertain about the cause?
Healing Progress Post-GBS: Toe Concerns
I am a 28-year-old male, measuring 5 feet 10 inches and weighing 131 pounds. My current medications include Fomadatine and Zyrtec, prescribed due to my ongoing battle with Chronic Gastritis and SIBO. I maintain a healthy lifestyle, abstaining from both smoking and alcohol. My health concern revolves around the toe adjacent to my pinky toe on my left foot, as well as my pinky toe on the right foot. Since August of last year, I have been on the mend from Guillain Barre Syndrome. Recently, I've noticed that at night, the skin on my feet tends to turn a reddish pink, although this usually improves after I walk around. However, two of my toes have remained red, with one appearing slightly swollen. Generally, my pinky toes are quite thick, but the condition of my left foot's toe is worrisome for me. It seems that I'm unable to upload an image to illustrate my issue.