Related Experiment Video
Updated: Mar 11, 2026
06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
8.2K
Hereditary Amyloidosis with Recurrent Lung Infiltrates
Alberto E Revelo1, Crischelle Magaspi2, George Maguire2
1Department of Medicine, Divisions of Pulmonary and Critical Care Medicine, estchester Medical Center, New York Medical College, Valhalla, NY, USA.
The American Journal of Case Reports
|November 23, 2016
Summary
Familial amyloidotic polyneuropathy (FAP) can rarely cause respiratory symptoms and lung infiltrates. Early suspicion of lung involvement is crucial for timely diagnosis and management in FAP patients.
Area of Science:
- Pulmonology
- Cardiology
- Neurology
Background:
- Amyloidosis is a protein misfolding disorder with extracellular amyloid fibril deposition.
- Transthyretin amyloidosis (ATTR) typically presents as polyneuropathy and cardiomyopathy.
- Respiratory involvement in ATTR amyloidosis is uncommon but can occur.
Observation:
- A 51-year-old male with progressive weakness was diagnosed with chronic demyelinating polyneuropathy.
- He later presented with heart failure and pulmonary infiltrates, diagnosed as ATTR amyloidosis.
- Recurrent pulmonary infiltrates were noted on serial chest imaging during multiple admissions.
Findings:
- Endomyocardial biopsy confirmed transthyretin amyloid deposition.
- Bronchoscopy revealed amyloid deposition in lung tissue.
- The patient experienced cough, dyspnea, hypoxemia, and lethargy.
Implications:
- Rare respiratory symptoms and pulmonary infiltrates in familial amyloidotic polyneuropathy warrant suspicion for lung involvement.
- This case highlights the importance of considering respiratory tract involvement in ATTR amyloidosis.
- Prompt diagnosis and management of pulmonary complications in FAP are essential.
Related Concept Videos
03:03Amyloid Fibrils
12.5K
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
12.5K
03:03Amyloid Fibrils
6.9K
6.9K
01:23Cystic Fibrosis: Pathogenesis
988
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
988
01:20Chronic Obstructive Pulmonary Disease-II: Pathophysiology
5.0K
Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation
Chronic Inflammation
5.0K
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
706
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
706
01:17Other Pulmonary Disorders
1.8K
Respiratory disorders encompass a range of conditions with varying levels of severity. Asthma, marked by chronic airway inflammation and hypersensitivity, is one such condition. It can lead to airway obstruction due to factors like bronchial spasms, mucosal edema, increased mucus secretion, or epithelial damage. Asthma triggers are diverse, ranging from allergens to emotional upset, and treatment focuses on both immediate relief through bronchodilators and long-term inflammation suppression.
1.8K