Transthyretin-Related Amyloidosis Questions & Answers

Updated: Oct 10, 2018
  • Author: Jefferson R Roberts, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Questions & Answers

Overview

What is transthyretin-related amyloidosis (ATTR)?

What are the cardiac signs and symptoms of transthyretin-related amyloidosis (ATTR)?

What are the neuropathic signs and symptoms of transthyretin-related amyloidosis (ATTR)?

What are the signs and symptoms of CNS disease in transthyretin-related amyloidosis (ATTR)?

How is transthyretin-related amyloidosis (ATTR) diagnosed?

What is the role of lab testing in the workup of transthyretin-related amyloidosis (ATTR)?

What is the role of imaging studies in the workup of transthyretin-related amyloidosis (ATTR)?

What is the role of medications in the treatment of transthyretin-related amyloidosis (ATTR)?

Which surgical interventions are used in the treatment of transthyretin-related amyloidosis (ATTR)?

What is transthyretin (TTR) and how does it cause amyloidosis?

What is the pathophysiology of normal-sequence transthyretin-related amyloidosis (ATTR)?

What is the pathophysiology of mutant transthyretin-related amyloidosis (ATTR)?

What is the US prevalence of transthyretin-related amyloidosis (ATTR)?

What is the global prevalence of transthyretin-related amyloidosis (ATTR)?

What are the most common variants of familial transthyretin-related amyloidosis (ATTR)?

What is known about familial transthyretin-related amyloidosis (ATTR) variant TTR B30M?

What are the racial predilections of transthyretin-related amyloidosis (ATTR)?

What are the sexual predilections of transthyretin-related amyloidosis (ATTR)?

How does the prevalence of transthyretin-related amyloidosis (ATTR) vary by age?

What is the mortality and morbidity associated with transthyretin-related amyloidosis (ATTR)?

What is the prognosis of transthyretin-related amyloidosis (ATTR)?

Presentation

Which clinical history findings are characteristic of transthyretin-related amyloidosis (ATTR)?

Which cardiac findings suggest transthyretin-related amyloidosis (ATTR)?

What is the neuropathic involvement characteristic of transthyretin-related amyloidosis (ATTR)?

What are the signs and symptoms of GI involvement in transthyretin-related amyloidosis (ATTR)?

Which signs and symptoms suggest carpal ligament involvement in transthyretin-related amyloidosis (ATTR)?

What are the signs and symptoms of ophthalmologic involvement in transthyretin-related amyloidosis (ATTR)?

Which hematologic condition is associated with transthyretin-related amyloidosis (ATTR)?

Which physical findings are characteristic of transthyretin-related amyloidosis (ATTR)?

Which cardiac exam findings are characteristic of transthyretin-related amyloidosis (ATTR)?

Which neurologic exam findings are characteristic of transthyretin-related amyloidosis (ATTR)?

Which ophthalmologic exam findings are characteristic of transthyretin-related amyloidosis (ATTR)?

Which cutaneous findings are characteristic of transthyretin-related amyloidosis (ATTR)?

DDX

Which conditions are included in the differential diagnoses of transthyretin-related amyloidosis (ATTR)?

What are the differential diagnoses for Transthyretin-Related Amyloidosis?

Workup

What are the diagnostic tests for transthyretin-related amyloidosis (ATTR)?

Which lab test findings are characteristic of transthyretin-related amyloidosis (ATTR)?

What is the role of biopsy in the diagnosis of transthyretin-related amyloidosis (ATTR)?

How does the sensitivity of transthyretin-related amyloidosis (ATTR) vary among biopsy sites?

What is the role of Congo red staining in the workup of transthyretin-related amyloidosis (ATTR)?

What is the role of cardiac imaging in the workup of transthyretin-related amyloidosis (ATTR)?

What is the role of bone scintigraphy in the workup of transthyretin-related amyloidosis (ATTR)?

What is the role of cardiac testing in the workup of transthyretin-related amyloidosis (ATTR)?

What is the role of nerve conduction studies in the workup of transthyretin-related amyloidosis (ATTR)?

What is the role of genetic studies in the workup of transthyretin-related amyloidosis (ATTR)?

What is the role of ophthalmological assessment in the workup of transthyretin-related amyloidosis (ATTR)?

What is the role of radiolabeled P-component scanning in the workup of transthyretin-related amyloidosis (ATTR)?

Which histologic findings are characteristic of transthyretin-related amyloidosis (ATTR)?

How is transthyretin-related amyloidosis (ATTR) staged?

Treatment

How is transthyretin-related amyloidosis (ATTR) treated?

Which medications are FDA-approved for the treatment of transthyretin-related amyloidosis (ATTR)?

What is the role of patisiran in the treatment of transthyretin-related amyloidosis (ATTR)?

What is the role of inotersen in the treatment of transthyretin-related amyloidosis (ATTR)?

What is the role of tafamidis in the treatment of transthyretin-related amyloidosis (ATTR)?

What is the role of diflunisal in the treatment of transthyretin-related amyloidosis (ATTR)?

What is the role of tolcapone in the treatment of transthyretin-related amyloidosis (ATTR)?

How are cardiac symptoms of transthyretin-related amyloidosis (ATTR) treated?

What is the role of liver transplantation in the treatment of transthyretin-related amyloidosis (ATTR)?

What is the role of carpal tunnel release surgery in the treatment of transthyretin-related amyloidosis (ATTR)?

What is the role of vitrectomy in the treatment of transthyretin-related amyloidosis (ATTR)?

Which dietary modifications are used in the treatment of transthyretin-related amyloidosis (ATTR)?

What are the possible complications of transthyretin-related amyloidosis (ATTR) after treatment?

Which specialist consultations are beneficial to patients with transthyretin-related amyloidosis (ATTR)?

Which activity modifications are used in the treatment of transthyretin-related amyloidosis (ATTR)?

How is transthyretin-related amyloidosis (ATTR) prevented?

What is included in the long-term monitoring of transthyretin-related amyloidosis (ATTR)?

What is the schedule for long-term ocular monitoring of patients with transthyretin-related amyloidosis (ATTR)?

Medications

What is the role of medications in the treatment of transthyretin-related amyloidosis (ATTR)?

Which medications in the drug class Antisense Oligonucleotides are used in the treatment of Transthyretin-Related Amyloidosis?

Which medications in the drug class siRNA Agents are used in the treatment of Transthyretin-Related Amyloidosis?

Follow-up

What are the possible complications of transthyretin-related amyloidosis (ATTR)?

What is the disease course of transthyretin-related amyloidosis (ATTR)?

What is the prognosis of transthyretin-related amyloidosis (ATTR)?