Hereditary Amyloidosis (hATTR)
Awareness and Early Detection
CHAPTER 3 –THE TURNING POINT
Be your own best advocate by recognizing the signs and symptoms.
DIAGNOSIS – FINALLY KNOWING
For years, we navigated a maze of medical appointments, each specialist focusing on individual symptoms—heart irregularities, carpal tunnel, joint issues, spinal stenosis, swelling feet and ankles—without recognizing the underlying connection. I just viewed all of these symptoms as unrelated, a consequence of playing football for over 20 years. Not to mention that I was getting older.
Diagnosing hereditary amyloidosis (hATTR), is notoriously challenging. The disease often mimics more common conditions, leading to frequent misdiagnoses or delayed recognition.
Key Steps in Diagnosis:
1. Recognize your symptoms:
• Cardiac Issues: Shortness of breath, fatigue, irregular heartbeat.
• Neurological Symptoms: Numbness, tingling, or pain in the hands and feet.
• Other Indicators: Carpal tunnel syndrome, gastrointestinal disturbances, unexplained weight loss.
2. Genetic Testing:
If hATTR is suspected, a genetic test can determine a diagnosis, and can identify whether it’s the hereditary type.
3. Additional Testing:
• Blood and Urine Tests: To detect abnormal protein levels and assess organ function.
• Echocardiograms or MRIs to evaluate heart structure and function.
4. U.S. Amyloidosis Centers (click)
GAME PLAN: AWARENESS AND EARLY DETECTION
