Understanding hATTR Amyloidosis: Causes, Symptoms, and Treatment Options
hATTR amyloidosis is a hereditary disease caused by genetic mutations that lead to abnormal protein deposits in organs. Treatments include liver transplants, FDA-approved drugs like Patisiran and Tafamidis, and innovative therapies in clinical trials. Early diagnosis and management are crucial for better outcomes.
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Approximately 50,000 individuals worldwide are affected by hATTR amyloidosis, a hereditary condition inherited in an autosomal dominant pattern. This means a person has a significant chance of developing the disease if one parent passes on the affected gene.
What causes hATTR amyloidosis?
It occurs when abnormal amyloid proteins deposit in tissues and organs, disrupting their structure and function. Six types of amyloidosis exist, including hereditary ATTR (hATTR).
hATTR results from a genetic mutation affecting the transthyretin (TTR) protein produced in the liver. The mutation causes TTR to misfold, leading to deposits in the heart, nervous system, and gastrointestinal tract, which cause symptoms. Treatment focuses on managing protein buildup.
Symptoms include:
Nervous system: numbness, tingling, weakness, temperature sensitivity loss, carpal tunnel syndrome.
Heart: fatigue, dizziness, shortness of breath, swelling, chest pain, irregular heartbeat.
Autonomic system: nausea, sweating, dizziness, sexual dysfunction, weight loss, gastrointestinal issues.
Other signs include vision problems, dementia, kidney issues, strokes, and blood vessel abnormalities.
Available treatments:
Liver transplant: Replaces the source of abnormal TTR production, potentially slowing disease progression, especially in early stages. Limitations include organ availability and the need for lifelong immunosuppressants.
FDA-approved drugs: Patisiran (Onpattro) and inotersen (Tegsedi) target nerve symptoms, while tafamidis (Vyndaqel) aids in cardiac-related cases. These medicines reduce TTR buildup and improve patient outcomes, though production and pricing are still being finalized.
Emerging therapies: New treatments in development include RNA-based approaches to decrease TTR production, stabilizers to prevent protein misfolding, and immunotherapy with monoclonal antibodies to clear deposits. These promising options are currently in clinical trials.
