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| Disease found: | Hereditary ATTR Amyloidosis |
| Current as of: | Mon Sep 16 2024 |
| Disease Overview: | hATTR is a genetic condition causing amyloid buildup in and around various organs due to TTR protein misfolding [more info]. |
| Signs and Symptoms: | Progressive multi system involvement: Heart Failure, EP Cardiac issues, postural hypotension, glaucoma, dry eye syndrome, headaches, stroke-like episodes, bilateral carpal tunnel, early satiety, constipation/diarrhea, NV, weight loss, proteinuria, lumbar spinal stenosis [more info]. |
| Diagnosis: | Genetic Testing for TTR mutations. Available for free as a send-to-home kit for qualifying patients here. |
| Treatment: | Early Stage: anti-amyloid therapies and RNA therapies available through Alnylam here and Wainua by AstraZeneca. A CRISPR based therapy is currently in development. Late Stage: Liver Transplant. |
| Clinical Management: | Supportive treatment for multi system developing comorbidities. |
| Referral: | At UCLA: Anasheh Halabi, MD PhD, Neuromuscular Medicine, Westwood Neurology, 300 Medical Plaza, Suite B200, Los Angeles, CA 90095, 310-794-1195. Additional support at the Amyloidosis Foundation. Referral to Medical Genetics Department, if available. TeleRare Health for virtual care and consults is also recommended. |
| Clinical Trials: | There are several clinical trials currently recruiting. |