Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy
Hereditary transthyretin amyloidosis (hATTR) is a rare inherited condition characterized by an abnormal build-up of a protein called amyloid in organs and tissues. A mutation in the transthyretin (TTR) gene destabilizes the transthyretin protein, which aggregates into amyloid fibrils. These fibrils deposit in organs around the body and may result in a wide range of clinical manifestations depending upon their type, location, and amount.
The major clinical manifestations of hATTR include:
- Heart failure
- Irregular heartbeat
- Peripheral neuropathy
- Autonomic neuropathy
- Abnormal sweating
- Difficulty urinating/sexual dysfunction
- Nephrotic syndrome
- Proteinuria (often asymptomatic)
How common is Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy?
There are an estimated 6,400 patients living with hATTR in the United States.
Questions regarding your Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy?
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What are the symptoms of Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy
Signs and symptoms of Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy include:
- Abdominal pain
- Nausea, vomiting, constipation or diarrhea
- Numbness, tingling, or burning sensation in the feet or hands
- Muscle weakness
- Difficulty urinating
- Sexual dysfunction
How is it diagnosed
Diagnosis can be difficult because the most common symptoms, such as unexplained abdominal pain, neuropathy, and psychological changes, are not specific to hATTR. If your doctor suspects that you have hATTR, he or she will want to review your medical and family history, perform a physical exam and perform one or more diagnostic tests. When hATTR is suspected, a tissue biopsy should be performed to confirm the diagnosis. Once a diagnosis is made, imaging such as a CT scan or MRI can be used to determine if disease is localized or systemic.
Financing Your Care
Financial assistance is available to support your drug costs including manufacturer and community programs. Accredo specialists are available to assist in finding the right program(s) for you.
Life-saving specialty medication can be expensive. Learn how the Accredo teams help individuals find ways to afford the medication they need to survive in this video.
There are many organizations that support research and advocacy for Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy. See below for a few of those organizations.
Meet the Team
Accredo’s Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy team is dedicated to serving you and we understand the complexity of your condition. Our specialty-trained clinicians are available 24 hours a day, seven days a week, to answer any questions.
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