Resumen
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
- Insuficiencia cardíaca
- 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.
Centro de Servicio al Cliente las 24 horas
Síntomas
What are the symptoms of Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy
Signs and symptoms of Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy include:
- Dolor abdominal
- Nausea, vomiting, constipation or diarrhea
- Numbness, tingling, or burning sensation in the feet or hands
- Debilidad muscular
- Difficulty urinating
- Sexual dysfunction
Cómo se diagnostica
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.
Medicamentos
Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy
The following specialty medications are available at Accredo, a specialty pharmacy for hATTR.
Financiación de su atención
Hay asistencia económica disponible para ayudarlo con el costo de sus medicamentos, incluidos programas de los fabricantes y programas comunitarios. Los especialistas de Accredo están a su disposición para ayudarlo a encontrar el programa adecuado para usted.
Orientación financiera
Los medicamentos de especialidad que salvan vidas pueden ser costosos. Conozca en este video cómo los equipos Accredo ayudan a las personas a encontrar formas de costear el medicamento que necesitan para sobrevivir.
Encuentre apoyo
There are many organizations that support research and advocacy for Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy. Consulte a continuación algunas de estas organizaciones.
Organizaciones de apoyo
Organizaciones gubernamentales
Conozca al equipo
Accredo’s Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy team is dedicated to serving you and we understand the complexity of your condition. Nuestros médicos clínicos con formación especializada están disponibles las 24 horas al día, los siete días de la semana, para responder cualquier pregunta.
Por qué lo hacemos
Accredo brinda apoyo a pacientes con afecciones crónicas y complejas, y los ayuda a vivir mejor su vida. Mire nuestro video para conocer por qué hacemos lo que hacemos por nuestros pacientes.