Work

Severe Aortopathy Caused by Fabry Disease

Year: 2025

Type: article

Abstract: The involvement of the aorta in Fabry disease (FD) is not uncommon, but the need for a surgical intervention and description of its potential results are rare. Pathology of the affected aortic wall is still unavailable. We report severe aortopathy caused by FD refractory to long-term (16-year agalsidase alpha) enzyme replacement therapy and progressing to a large aneurysm (56 mm) of the aortic root requiring surgical repair. We describe the pathology of the aortic wall, including globotriaosylceramide (Gb3) accumulation in the smooth muscle cells, large areas of fatty infiltration, and foci of lymphocytic inflammation as an immune-mediated reaction to Gb3 secretion.

Source: Annals of Internal Medicine Clinical Cases

DOI: 10.7326/aimcc.2024.1205

Authors: Andrea Frustaci, Ruggero de Paulis, Nicola Galea, Matteo Antonio Russo, Luigi Sansone, Manuel Belli, Aurora Polvani, Romina Verardo

Institutions: Istituti di Ricovero e Cura a Carattere Scientifico, European Hospital, Sapienza University of Rome, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7093018270

FWCI:

Cites: 4

Cited by:

Related to: