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Learn About Familial Transthyretin Amyloidosis

What is the definition of Familial Transthyretin Amyloidosis?
Familial transthyretin amyloidosis (FTA) is a rare inherited condition characterized by abnormal build-up of a protein called amyloid in the body's organs and tissues. Signs and symptoms depend on where the amyloid protein is building up. Amyloid build-up in the nerves of the peripheral nervous system causes a loss of sensation in the lower limbs, feet, and hands (peripheral neuropathy). Amyloid build-up can also affect the involuntary body functions, such as blood pressure, heart rate, and digestion. Other areas of the body that may be affected are the heart, kidneys, eyes, and gastrointestinal tract. FTA is caused by changes in the TTR gene. Inheritance is autosomal dominant, but not all people with a TTR genetic change will develop FTA. Diagnosis of FTA is suspected by signs and symptoms and confirmed by tissue biopsy and genetic testing.
What are the alternative names for Familial Transthyretin Amyloidosis?
  • Familial transthyretin amyloidosis
  • Amyloidosis Transthyretin related
  • Amyloidosis, hereditary, transthyretin-related
  • Familial amyloid polyneuropathy
  • Hereditary ATTR amyloidosis
  • TTR amyloid neuropathy
  • Transthyretin amyloid neuropathy
  • Transthyretin amyloid polyneuropathy
  • Transthyretin amyloidosis
Who are the top Familial Transthyretin Amyloidosis Local Doctors?
Michel G. Khouri
Distinguished in Familial Transthyretin Amyloidosis
Advanced Heart Failure and Transplant Cardiology | Cardiology
Distinguished in Familial Transthyretin Amyloidosis
Advanced Heart Failure and Transplant Cardiology | Cardiology

Duke Cardiology Clinic - Clinic 2F/2G

40 Duke Medicine Cir, 
Durham, NC 
Languages Spoken:
English, Spanish
Accepting New Patients
Offers Telehealth

Michel Khouri is an Advanced Heart Failure and Transplant Cardiologist and a Cardiologist in Durham, North Carolina. Dr. Khouri is rated as a Distinguished provider by MediFind in the treatment of Familial Transthyretin Amyloidosis. His top areas of expertise are Cardiac Amyloidosis, Transthyretin Amyloid Cardiomyopathy, Heart Failure, Cardiac Ablation, and Orchiectomy. Dr. Khouri is currently accepting new patients.

Michael J. Polydefkis
Elite in Familial Transthyretin Amyloidosis
Elite in Familial Transthyretin Amyloidosis

Johns Hopkins Bayview Medical Center

Baltimore, MD 
Languages Spoken:
English
Offers Telehealth

Dr. Michael Polydefkis focuses on neuromuscular diseases, particularly peripheral nerve diseases. He has a special interest in diabetic and HIV-associated peripheral neuropathy. His expertise includes nerve conduction studies, electromyography and nerve, skin and muscle biopsy reading. Dr. Michael Polydefkis received his medical degree from The Johns Hopkins University School of Medicine. He then became a Howard Hughes Medical Institute research fellow before returning to Johns Hopkins to complete an internship and residency in internal medicine, residency in neurology and a fellowship in neuromuscular diseases. Dr. Polydefkis is rated as an Elite provider by MediFind in the treatment of Familial Transthyretin Amyloidosis. His top areas of expertise are Transthyretin Amyloidosis, Familial Transthyretin Amyloidosis, Primary Amyloidosis, and Peripheral Neuropathy.

 
 
 
 
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Mathew S. Maurer
Elite in Familial Transthyretin Amyloidosis
Advanced Heart Failure and Transplant Cardiology | Cardiology
Elite in Familial Transthyretin Amyloidosis
Advanced Heart Failure and Transplant Cardiology | Cardiology

Trustees Of Columbia University In The City Of New York

622 W 168th St, 
New York, NY 
Languages Spoken:
English
Offers Telehealth

Mathew Maurer is an Advanced Heart Failure and Transplant Cardiologist and a Cardiologist in New York, New York. Dr. Maurer is rated as an Elite provider by MediFind in the treatment of Familial Transthyretin Amyloidosis. His top areas of expertise are Cardiac Amyloidosis, Primary Amyloidosis, Transthyretin Amyloid Cardiomyopathy, Heart Transplant, and Transcatheter Aortic Valve Replacement (TAVR).

What are the latest Familial Transthyretin Amyloidosis Clinical Trials?
Long-Term Follow-Up of Subjects Treated With NTLA-2001

Summary: This is a follow-up study of subjects who received NTLA-2001 in a previous clinical trial as an observational evaluation of the long-term effects of the investigational therapy.

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Physiologic Assessment of Microvascular Function in Patients With Cardiac Amyloidosis: Prospective Registry and Pilot Study

Summary: The aim of the study is to evaluate coronary flow reserve (CFR), index of microcirculatory resistance (IMR), and proportion of overt microvascular disease, defined as depressed CFR as well as elevated IMR in patients with cardiac amyloidosis. The second objective of this study is to compare results of non-invasive test including serum light chain amount, Doppler echocardiography with 2D strain, an...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center