Hereditary Transthyretin Amyloidosis (hATTR)

Six-Minute-Walk-Test

Experimental Treatment Could Improve Quality of Life in Patients With hATTR

A novel investigational therapy currently being tested in clinical trials may become a treatment option for patients with hereditary transthyretin amyloidosis (hATTR), according to a news release from Alnylam Pharmaceuticals, Inc. This phase 3 trial evaluated the efficacy and safety of patisiran, which is designed to treat hATTR patients with cardiomyopathy. This experimental treatment successfully…
hATTR types

Hereditary Transthyretin Amyloidosis Types

Hereditary amyloidosis consists of a group of genetic diseases in which amyloid fibrils form and deposit in several organs and tissues in the body, causing them to malfunction.1 The most common type of hereditary amyloidosis is associated with mutations in the transthyretin (TTR) gene, which encodes the TTR protein.1,2  Hereditary Transthyretin Amyloidosis Phenotypes Hereditary transthyretin…
hATTR signs and symtoms

Hereditary Transthyretin Amyloidosis Signs and Symptoms

Hereditary transthyretin-mediated amyloidosis (hATTR) is a degenerative, progressive, fatal disease involving multiple organs and tissues. The disease occurs due to misfolded transthyretin (TTR) protein.1 Long before symptoms appear, amyloid fibrils start to accumulate. The disease can affect various organ systems and body tissues as it worsens. While the disease’s progression is varied, some signs and…
hATTR Life Expectancy

Hereditary ATTR (hATTR) Amyloidosis Life Expectancy

Hereditary transthyretin-related (hATTR) amyloidosis is a rare, severe, inheritable, debilitating disease that tends to affect the peripheral and autonomic nervous system, heart, gastrointestinal system, and eyes. Mutations in the transthyretin (TTR) gene, inherited in an autosomal-dominant pattern, lead to the deposition of amyloid fibrils in multiple organs, which causes somatic and autonomic neuropathy, cardiomyopathy, and…
hATTR History

Hereditary Transthyretin Amyloidosis History

Hereditary transthyretin amyloidosis (hATTR) is a systemic and progressive disease that derives from mutations in the transthyretin (TTR) gene that lead to the formation and deposit of amyloid fibers in organs and tissues. Amyloid fibers most often accumulate in the peripheral nerves (hATTR with polyneuropathy) and heart (hATTR with cardiomyopathy), although other organs and tissues,…
hATTR diet and nutrition

Hereditary ATTR Amyloidosis Diet and Nutrition

Hereditary transthyretin (hATTR) amyloidosis is a rare genetic condition characterized by the abnormal accumulation of amyloid proteins throughout the body, particularly in the nervous and cardiac systems. hATTR amyloidosis may also affect the kidneys, eyes, and gastrointestinal tract. Common manifestations of this disease include progressive peripheral neuropathy, cardiomyopathy progressing to heart failure, and autonomic dysfunction,…
hATTR Clinical Features

Hereditary Transthyretin Amyloidosis Clinical Features

Hereditary transthyretin amyloidosis (hATTR) is a rare genetic disease deriving from mutations in the transthyretin (TTR) gene.1 This disease presents with clinical heterogeneity and is characterized by a progressive neuropathy of both the peripheral sensorimotor and autonomic systems, as well as by cardiomyopathy, nephropathy, and vitreous and central nervous system (CNS) complications.2 Correlation Between Genotype…
hATTR experimental therapies

Hereditary Transthyretin (hATTR) Amyloidosis Experimental Therapies

Hereditary transthyretin-related (hATTR) amyloidosis is a rare disorder that is fatal if left untreated. The disease is caused by mutations in the transthyretin (TTR) gene and is inherited in an autosomal-dominant pattern. The tetrameric TTR molecule misfolds as a result of every known mutation, and misfolding results in the deposition of amyloid protein in numerous…
hATTR treatment guidelines

Hereditary Transthyretin Amyloidosis Guidelines

Hereditary transthyretin amyloidosis (hATTR) is a rare and autosomal dominant disease characterized by the accumulation of amyloid protein in several organs due to changes in the transthyretin (TTR) gene.1,2 Amyloid protein can typically build up in the nerves, heart, eyes, and gastrointestinal tract, leading to multiple signs and symptoms. Peripheral neuropathy (neuropathic pain, numbness in…
hATTR pathophysiology

Hereditary Transthyretin Amyloidosis Pathophysiology

Hereditary transthyretin amyloidosis (hATTR) is a rare genetic condition with an autosomal dominant pattern that leads to progressive systemic dysfunction. In hATTR, mutations in the transthyretin (TTR) gene potentiate the deposition of TTR protein in multiple sites as amyloid fibers.1 Transthyretin Protein The TTR protein was known first as prealbumin. It is a 55-kDa transport…
hATTR prognosis

Hereditary Transthyretin Amyloidosis Prognosis

Hereditary transthyretin-mediated amyloidosis (hATTR) is a rare, inherited, progressive, degenerative, physically debilitating, and fatal disease caused by mutations in the transthyretin (TTR) gene that lead to misfolding of the transthyretin protein. This results in the deposition of insoluble, misassembled amyloid fibrils in various organs and tissues of the body that disrupt normal tissue structure and…
Hereditary Transthyretin (hATTR) Amyloidosis Surgical Management

Hereditary Transthyretin (hATTR) Amyloidosis Surgical Management

Hereditary transthyretin (hATTR) amyloidosis is a rare hereditary systemic disease driven by mutations in the transthyretin (TTR) gene that initiate the deposition of amyloid fibrils in many organs and tissues.1 Most often, patients display signs and symptoms of polyneuropathy; however, cardiac, renal, and ocular involvement is not uncommon.1 Currently, various therapeutic strategies to address hATTR…
ereditary transthyretin-mediated amyloidosis risk factors

Hereditary Transthyretin (hATTR) Amyloidosis Risk Factors

Hereditary transthyretin-mediated amyloidosis, also called as hATTR or ATTRv amyloidosis (v for “variant”), is a rare, life-threatening disorder in which systemic amyloid gradually damage various organs, resulting in disability and death.1 The tetramers of variant transthyretin (TTR) protein are unstable and dissociate into monomers. These form aggregates that eventually deposit as amyloid fibrils in the…
hATTR Histology

Hereditary Transthyretin-Mediated (hATTR) Amyloidosis Histology

According to the current nomenclature guidelines, the familial forms of transthyretin-mediated (ATTR) amyloidosis, formerly known as familial amyloid polyneuropathy (FAP) or familial amyloid cardiomyopathy (FAC), should now be referred to as hereditary ATTR (hATTR) amyloidosis, and a characterization of the dominant features and mutations should be included if known.1 More than 120 TTR gene mutations…
hATTR genetics

Hereditary Transthyretin Amyloidosis Genetics

Hereditary transthyretin amyloidosis (hATTR) is a rare, life-threatening, and progressive disorder. It has been traditionally classified according to the predominant clinical features as transthyretin familial amyloid polyneuropathy (TTR-FAP) or transthyretin familial amyloid cardiomyopathy (TTR-FAC), though the majority of the patients show clinical manifestations of both nerve and heart involvement.  There is also a nonhereditary, wild-type…
Hereditary transthyretin (hATTR) amyloidosis clinical trials

Hereditary ATTR (hATTR) Amyloidosis Clinical Trials

Hereditary transthyretin (hATTR) amyloidosis is an inherited disease in which misfolded transthyretin (TTR) protein accumulates in tissues and organs, including the peripheral nerves, heart, eyes, and gastrointestinal tract.1,2  Various therapeutic approaches are used to manage hATTR amyloidosis, including the inhibition of TTR synthesis and TTR stabilization.1 Currently, several interventional as well as non-interventional studies are…
hATTR care team

Hereditary Transthyretin Amyloidosis Care Team

Hereditary transthyretin amyloidosis (hATTR) is a genetic condition characterized by the deposition of amyloid fibers in different tissues and organs following the misfolding of transthyretin protein.1 This abnormal amyloid deposition often leads to clinical manifestations in the peripheral and autonomic nervous system and the heart.2 Other organ systems, such as the musculoskeletal and gastrointestinal, can…
hATTR patient education

Hereditary Transthyretin Amyloidosis Patient Education

Hereditary transthyretin amyloidosis (hATTR) is a rare genetic disease in which protein amyloid accumulates in several organs and tissues of the body.1 Depending on which organ is affected, patients can present with different signs and symptoms. Most commonly, hATTR can greatly affect the nerves of the peripheral nervous system, leading to numbness of the hands,…
Hereditary transthyretin amyloidosis (hATTR) complications

Hereditary Transthyretin (hATTR) Amyloidosis Complications

Hereditary transthyretin (hATTR) amyloidosis is a rare systemic disorder associated with mutations in the transthyretin (TTR) gene, in which abnormal proteins (amyloid) accumulate in various organs and tissues, impairing function. As the disease progresses, the symptoms become more severe. If hATTR is not treated, serious complications may result. Early detection and intervention are essential to…
hereditary transthyretin (hATTR) amyloidosis treatment

Hereditary ATTR Amyloidosis Treatment

The treatment of hereditary transthyretin (hATTR) amyloidosis focuses primarily on inhibiting the formation and deposition of amyloid protein aggregates, managing symptoms, and monitoring involved organ systems. Organ transplant is used in cases of advanced disease and organ failure.1 Anti-amyloid Therapies Anti-amyloid therapies are divided into 2 main categories: transthyretin (TTR)-stabilizing therapies and gene-silencing therapies.1  TTR…