In the absence of alpha-gal A, GB3 accumulates inside cells, depositing in various tissues, mainly in the walls of blood vessels. Hence, Fabry disease is part of a group of pathologies called reservoir diseases. All signs and symptoms of Fabry disease are derived from this buildup of GB3...
Fabry disease can lead to more serious problems, especially in men. Yet females that have the gene for Fabry, or carriers of the gene, can also have symptoms of Fabry that show up differently. Women with the disease have a significant risk of serious complications from Fabry, as well as o...
Nonspecific gastrointestinal (GI) symptoms, such as postprandial cramping pain, diarrhea, nausea and vomiting are typical symptoms for irritable bowel syndrome or inflammatory bowel disease, but may also be the first symptoms of Fabry disease (FD). This review focus on GI manifestations in FD, by...
Still, the presentation of the disease can be highly variable from patient to patient and may not always follow a typical course, especially in female patients.Common early Fabry disease symptoms, which are most often observed in people with the classic type of disease, include:...
“substrates” of the enzyme. Reduced or absent levels of alpha-Gal A activity leads to the accumulation of GL-3 in the affected tissues, including the kidneys, heart, central nervous system, and skin. This accumulation of GL-3 is believed to cause the various symptoms of Fabry disease, ...
Additionally, because the causative gene is located on the X chromosome, there is a significant sex difference in FD symptoms. Male patients typically exhibit more severe symptoms compared to female patients. Figure 1. Pathophysiological Mechanism of Fabry Disease (FD): Lysosomal accumulation of glycos...
Although in hemizygous males the symptomatology is more severe and the disease has a higher incidence, females can also be affected particularly at later ages and with an overall lower frequency in symptoms manifestation, with the exception of cerebrovascular phenotypes which are as frequent as in ...
Fabry disease is a pan-ethnic, progressive, X-linked genetic disorder that commonly presents in childhood and is caused by deficient activity of the lysosomal enzyme alpha-galactosidaseA (α-gal A). Symptoms of Fabry disease in the pediatric population are well described for patients over five ye...
The treatment of Fabry's disease has so far only been symptomatic; however, new advances have now made it possible to prescribe 伪-galactosidase replacement therapy, which not only improves symptoms, but also enhances these patients' quality of life and lowers mortality. In this paper we review...
Becoming educated and informed about Fabry disease is a good first step. Here you’ll find general information about the disease, including diagnosis, symptoms, and causes. Get informed Personal experiences It helps to know others have been where you are now. Here’s a collection of our columni...