概述
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:
- Cardiac
- Cardiomyopathy
- Heart failure
- Irregular heartbeat
- Gastrointestinal
- Hepatomegaly
- Constipation/diarrhea
- Nausea/vomiting
- Nerologic
- Peripheral neuropathy
- Autonomic neuropathy
- Abnormal sweating
- Difficulty urinating/sexual dysfunction
- Renal
- 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?
You can reach the Accredo Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy care team, anytime, day or night, seven days a week by phone or online.
24 小时客户服务中心
症状
What are the symptoms of Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy
Signs and symptoms of Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy include:
- 腹痛
- Nausea, vomiting, constipation or diarrhea
- Numbness, tingling, or burning sensation in the feet or hands
- Muscle weakness
- Difficulty urinating
- Sexual dysfunction
如何诊断
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.
药品
Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy
The following specialty medications are available at Accredo, a specialty pharmacy for hATTR.
节约护理费用
您还可获得经济援助，以承担您的部分药品费用，包括生产商和社区计划。Accredo 专家可以帮助您找到适合您的计划。
财政指导
急救性质的特殊药品很昂贵。通过此视频，了解 Accredo 团队如何帮助个人找到可以负担他们救命药品费用的方式。
查找支持
There are many organizations that support research and advocacy for Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy. 下面是其中部分组织。
支持组织
政府组织
团队介绍
Accredo’s Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy team is dedicated to serving you and we understand the complexity of your condition. 我们的特殊培训临床医师每周 7 天、每天 24 小时为您提供服务，以回答您的任何问题。
我们为什么要这样做
Accredo 为慢性和复杂病症患者提供支持，并帮助他们过上最好的生活。请观看我们的视频，了解我们为什么为患者尽心尽力。