Am I Experiencing Marfan Syndrome Symptoms?
Lately, I've been feeling quite anxious about my health. I have relatively long fingers—not excessively, but noticeably so—and my wingspan measures 6'5.5", despite my height being only 6'. Additionally, my legs seem disproportionately longer than my torso, and I also have a long neck—again, it's long but not excessively so. I've dealt with dental issues, such as missing teeth, and in my childhood, I had several teeth grow in behind existing ones. I have exhibited positive signs for the thumb and wrist, and my thumb bends back unusually easily—not enough to touch my wrist, but definitely more than is typical for most. These physical characteristics have raised some concerns for me. However, I should mention that I don't have any noticeable chest deformities, either protruding or sunk in, and my heart health appears to be normal. There are no issues with my vision, and my feet are of standard size with no bending. Furthermore, my shoulders are not narrow for my height; they are within the average to above-average range, and I possess no stretch marks at all. It’s worth noting that I experienced a growth spurt much later than my friends. Interestingly, my father shares similar measurements in height, wingspan, and finger length, but at 60 years old, he has not encountered any related health problems. This leaves me questioning if my symptoms might be indicative of Marfan syndrome or if they are simply unique traits of mine.
Answers (1)
7/25/2025, 1:10:49 PM
OpenHealth AI
Based on your description, it's understandable to feel anxious about your health, especially with some features that may be associated with Marfan syndrome. However, it’s important to note that Marfan syndrome is characterized by a specific set of features and potential complications that are not solely identified by lengthened limbs or fingers.
Explanation
Marfan syndrome is a genetic disorder affecting connective tissue, often leading to unusual height, long limbs, and flexibility in joints. Key signs can include:
- Tall stature with disproportionately long limbs
- Unusually flexible joints
- Heart and eye issues, such as conditions affecting the aorta or lens dislocation
- Other physical features like a long face or Pes planus (flat feet)
While you mention some characteristics like long fingers and wingspan, your lack of heart issues, noticeable chest deformities, vision problems, and stretch marks reduces the likelihood of Marfan syndrome. Having a family history with similar traits is also relevant.
Next Steps
-
Self-Observation: Continue to monitor your physical traits and any new symptoms. Note any changes in flexibility, heart health, or other concerns.
-
Reassure Yourself: Many people have unique features without them indicating a condition like Marfan syndrome. Since your father shares similar characteristics without health issues, it may simply be genetic.
-
Educate Yourself: Familiarize yourself with Marfan syndrome and its symptoms. Understanding your body and its variations can help reduce anxiety.
-
Consult if Needed: If your anxiety persists or you develop new symptoms, consider seeking advice from a healthcare professional. They can provide a thorough evaluation, including a physical examination and possibly genetic counseling if warranted.
It’s completely normal to have concerns about seemingly unusual traits. Remember to focus on overall health and well-being, and only pursue further testing if you notice significant changes in your health status.
Related Questions
Assessing My Health Concerns: How Anxious Should I Be?
I’m a 32-year-old woman, weighing 124 pounds and standing at 5 feet 6 inches tall. For over a year, I have been experiencing bright red rectal bleeding. Initially, I attributed this issue to hemorrhoids that developed during my pregnancy two years ago. The bleeding occurs with most of my bowel movements, sometimes happens without one, and on a few occasions, has been enough to stain the toilet bowl significantly. The color of the blood is typically darker than what I observe during a hemorrhoid flare-up. There is a notable family history of bowel cancer on both sides; one family member was diagnosed at age 45, and another at 60. In the past six months, I have encountered several episodes of severe abdominal pain—3 to 4 instances—intense enough to consider a trip to the emergency room. However, the pain usually subsides within about an hour. It’s unusual for me to experience such acute pain, given my high tolerance for discomfort; for example, I once played rugby shortly after dislocating and fracturing my finger. Recently, I mustered the courage to consult with my doctor, who recommended a FIT test, which returned a positive result (30.1). Additionally, I underwent a complete blood test, and aside from having low ferritin levels (7 µg/L), all other results were normal. I have since been referred for a colonoscopy on a two-week waiting list to rule out any possible bowel cancer. Given these circumstances, how concerned should I be? Thank you for your input.
Understanding Possible Seizure Triggers and Recurrence Risks
Health Background: I am a 21-year-old female, standing at 169 cm and weighing 65 kg. Over the past three years, I have been using oral contraceptives. As of this morning, I started taking 25 mcg of levothyroxine along with a weekly vitamin D supplement of 0.266 mg. Recently, I was diagnosed with hypothyroidism and found to have a vitamin D deficiency that I suspect has existed for the last three years. I do not consume alcohol or smoke, and I can confirm I am not pregnant. Two years ago, I experienced a mild concussion. I currently reside in Spain. A couple of months back, in mid-December, I blacked out twice. The second occurrence took place while I was at the doctor’s office after seeking urgent medical care for the initial incident. Following the second episode, I underwent a CT scan and an EKG, both of which returned normal results. Further tests, as directed by my physician, revealed a critical vitamin D deficiency and hypothyroidism; however, he expressed doubt that either of these conditions led to my loss of consciousness. I was then referred to a neurologist, and I am presently awaiting an appointment. Although the waiting period is lengthy, my doctor indicated that I should receive priority for scheduling, although the exact timeframe remains uncertain. The referral document summarized my events, labeling the second episode (which the physician witnessed) as a potential seizure devoid of tonic-clonic movements—a revelation that took me by surprise. After regaining consciousness, I felt extremely disoriented and terrified, struggling to process what was happening. I have no prior history of seizures, epilepsy, or any related conditions, and there is no known family history of these issues. If this indeed was a seizure, what might have triggered it? Additionally, what is the likelihood of experiencing another one? Since that time, I have not had any further incidents, but I have experienced moments where I felt a sense of impending doom, which I managed to overcome. I intend to wait for the neurologist's evaluation, but the uncertainty surrounding a possible neurological condition is quite distressing. Thank you for any insight you can provide!
INTENSE Spine Discomfort, Breathing Difficulties, Muscle Twitches, and Sweating
To elaborate on the situation mentioned in the title, I’ve been experiencing unusual muscle twitches and spasms for the past few days, along with some discomfort in my back. However, today, I felt an unexpected sharp pain shoot through my spine, which has left my legs feeling numb and made it impossible for me to sit up straight. Additionally, I’ve been dealing with cold sweats for the last hour and struggling to breathe properly. Perhaps I’m just overanalyzing things and it’s a common occurrence, but the intensity of the pain is overwhelming—it's truly unbearable. I’m shaking quite a bit, and unfortunately, my parents aren’t responding to my attempts to reach them for help. I have a history of a chronic heart condition and arthritis, yet I’ve never experienced pain this severe, especially in my spine. For context, I am nearly 15 years old and female. My current medications include pain relievers, anxiety medication, beta blockers, and some vitamins, though those specifics may not be particularly relevant. I don’t smoke; however, I have tried vaping a few times, which might not matter much, but I thought it was worth mentioning as it was requested.
Understanding Atrial Fibrillation and Thyroid Issues: Variability in Cardioversion Decisions
Hello everyone, I’m reaching out for guidance regarding my mother’s current health situation, and I’d greatly appreciate any shared experiences or thoughts. **My mother's background:** - **Age**: 55 years - **Weight**: Recently dropped to 116 kg from 118 kg in just two days, likely due to diuretics. - **Health history**: Previously an underactive thyroid, undiagnosed and untreated, now presenting as overactive. - **Medications**: Currently taking thyroid medication and a beta-blocker (Rapiblock). **Current health status:** My mother has been hospitalized since Tuesday, experiencing **atrial fibrillation with heart rates exceeding 200** beats per minute due to her thyroid's hyperactivity. - The plan for cardioversion was initially settled on Tuesday. However, the following day, the medical team advised postponing it until her thyroid levels could be stabilized, believing that her heart rate would return to normal once her thyroid condition was managed. - Her **obesity** precludes her from undergoing a transthoracic echocardiogram, and due to her thyroid concerns, she cannot handle contrast dye (this has been a consistent issue for over four years). Therefore, the only feasible option was a **transesophageal echocardiogram (TEE)**, which has yet to be performed. - She has been prescribed various medications including beta-blockers and thyroid treatments in the past. - On Friday, a doctor proposed proceeding with cardioversion; however, the attending senior physician objected. - Today (Saturday), another clinician has expressed a desire to move forward with cardioversion, having initiated a new medication, as the senior physician is unavailable. - **Communication has been unclear**, as we were notified of developments by a nurse rather than the physician in charge, causing confusion and anxiety. - Currently, only a **chest X-ray** is scheduled, and the TEE remains unaddressed. **My inquiries are as follows:** 1. Is it common for medical professionals to have varying opinions and frequently revise medication or treatment plans like cardioversion? 2. Is it safe to conduct cardioversion in the absence of a TEE? I presumed that this was a standard procedure to exclude the presence of blood clots. 3. Is it usual practice to have only a chest X-ray prior to moving ahead with cardioversion? 4. How typical is it for patients or their families to not be directly informed about treatment changes and learn about them through nursing staff instead? I recognize that this cannot substitute for professional medical advice. I’m simply trying to discern whether these circumstances are typical or if we should express our concerns more assertively with the healthcare facility. Thank you for your insights!
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.