Transthyretin AmyloidosisSymptoms, Doctors, Treatments, Advances & More
Learn About Transthyretin Amyloidosis
Transthyretin amyloidosis is a progressive condition characterized by the buildup of abnormal protein deposits called amyloids (amyloidosis) in the body's organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves that connect the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Protein deposits in these nerves result in a loss of sensation or in muscle weakness in the extremities (peripheral neuropathy). The autonomic nervous system, which controls involuntary body functions such as blood pressure, heart rate, and digestion, may also be affected by amyloidosis. In some cases, the brain and spinal cord (central nervous system) are affected. Other areas of amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms begin to develop varies widely among individuals with this condition, typically ranging from age 20 to 70.
Variants (also called mutations) in the TTR gene cause transthyretin amyloidosis. The TTR gene provides instructions for making a protein called transthyretin. Transthyretin transports vitamin A (retinol) and a hormone called thyroxine throughout the body. To transport retinol and thyroxine, four transthyretin proteins must attach (bind) to each other to form a four-protein unit (tetramer).
The exact incidence of transthyretin amyloidosis is unknown. In northern Portugal, the incidence of this condition is thought to be one in 538 people. Transthyretin amyloidosis is less common among Americans of European descent, where it is estimated to affect one in 100,000 people. The cardiac form of transthyretin amyloidosis is more common among people with African ancestry. It is estimated that this form affects between 3 percent and 3.9 percent of African Americans and approximately 5 percent of people in some areas of West Africa.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the variant from one affected parent. Rarely, the condition results from a new (de novo) variant in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or in early embryonic development. These affected individuals have no history of the disorder in their family. Not all people who have a TTR gene variant will develop transthyretin amyloidosis.
Brigham And Women's Hospital
Rodney Falk is a Cardiologist practicing medicine in Boston,, Massachusetts. Dr. Falk is rated as an Elite provider by MediFind in the treatment of Transthyretin Amyloidosis. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Primary Amyloidosis, Cardiac Amyloidosis, Transthyretin Amyloidosis, Heart Transplant, and Cardiac Ablation.
Cleveland Clinic Main Campus
Mazen Hanna is a Cardiologist practicing medicine in Cleveland, Ohio. He has been practicing medicine for over 33 years. Dr. Hanna is rated as an Elite provider by MediFind in the treatment of Transthyretin Amyloidosis. He is also highly rated in 18 other conditions, according to our data. His clinical expertise encompasses Cardiac Amyloidosis, Transthyretin Amyloid Cardiomyopathy, Primary Amyloidosis, Heart Transplant, and Tenotomy.
Johns Hopkins Bayview Medical Center
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 Transthyretin Amyloidosis. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses Transthyretin Amyloidosis, Familial Transthyretin Amyloidosis, Primary Amyloidosis, and Peripheral Neuropathy.
Summary: This study will be conducted to evaluate the efficacy and safety of a single dose of nexiguran ziclumeran (NTLA-2001) compared to placebo in participants with ATTRv-PN.
Summary: Transthyretin (TTR) is a protein made by the liver that helps transport thyroid hormone and vitamin A in the blood. In some people, this protein breaks down and forms harmful clumps called amyloid. TTR amyloid gets deposited in the heart wall and stops it from pumping blood properly, which may lead to heart failure. The breakage in TTR protein can be age-related (wild-type ATTR-CM), or genetic (va...
Published Date: November 08, 2023
Published By: National Institutes of Health