[18F] With joint pain, hyper-flexibility, and connective tissue concerns
Patient Description
An 18-year-old female presents with chronic joint pain in the shoulders, knees, and hips, rated 5-7 out of 10. The pain has been present for as long as she can remember and is sometimes relieved by realigning or 'popping' the joints. She reports hyper-flexibility, stretchy, easily bruised skin, and scars that appear pink, thick, with a unique texture, sometimes shedding dead skin. There is a family history of connective tissue disorders on her father's side. The patient was diagnosed with a brain arteriovenous malformation (AVM) in December 2022, treated with radiation. She has no known medication allergies and takes Tylenol 1000mg as needed.
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Arora's Assessment
What might be happening
Based on the symptoms you've described, a possible condition to consider is:
- Ehlers-Danlos Syndrome (EDS): This is a group of connective tissue disorders that can cause hypermobility, stretchy skin, and joint pain. The symptoms you mentioned, such as joint dislocations, hyper-flexibility, and the appearance of your scars, align with this condition. EDS can also be associated with easy bruising and issues with wound healing.
- Typical Treatments: Management often includes physical therapy to strengthen muscles around joints, pain management strategies, and sometimes bracing to support joints. Genetic counseling might be recommended due to the hereditary nature of the condition.
What you can do
- Consult a Healthcare Provider: It's important to discuss your symptoms with a doctor who can provide a formal diagnosis and recommend appropriate tests, such as genetic testing.
- Symptom Management: Consider physical therapy to help manage joint pain and improve stability. Over-the-counter pain relief, like Tylenol, can be used as needed, but consult your doctor for long-term pain management strategies.
- Track Your Symptoms: Use MDandMe to journal your symptoms, track any changes, and share this information with your healthcare provider. This can help in managing your condition effectively.
What you should look out for
- Increased Pain or New Symptoms: If you experience worsening pain, new joint dislocations, or any other concerning symptoms, seek medical attention.
- Wound Healing Issues: If you notice problems with healing or increased bruising, inform your doctor.
- Regular Check-ups: Keep up with regular medical appointments to monitor your condition and adjust your management plan as needed.
Remember, while I can provide information, it's essential to consult with a healthcare professional for a comprehensive evaluation and personalized advice.
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3 mo ago