FAQ
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WHAT IS FABRY INDICATOR?
Fabry Indicator is a website application that enables you to create a patient’s family tree to help identify relatives at risk of carrying a GLA gene mutation.
Starting with an Index Patient, the website application predicts the probability of a family member having a GLA gene mutation (based on x-linked patterns of inheritance)
and highlights the need for genetic testing. The core of the Fabry Indicator website application is a Pedigree family tree drawing showing the patient’s relations with colours
indicating each family member’s predicted risk of Fabry disease. The image is interactive, so additional family members can be added at any point. The website application
is designed to display information on families potentially affected by GLA gene mutations, but this is not intended to be a definitive diagnosis as this can only be
achieved with appropriate genetic testing. To monitor the impact of carrying a GLA mutation, evaluation of clinical symptoms and appropriate laboratory testing
(enzyme activity, biomarkers etc.) should be performed on both males and females that are at risk of expressing Fabry disease.
WHAT WILL HAPPEN WITH THE DATA THAT I ENTER INTO THE WEBSITE APPLICATION?
All personal data inputted in the tool is stored locally on your device and is only accessible from that specific device.
While the algorithm is processed in the cloud, no patient-identifiable information is passed on or stored on a central server.
Your access details are stored internally.
HOW CAN I CREATE AN ACCOUNT?
To access the Fabry Indicator website application, you can use a locally created account. From the login screen, you will see a Register option. This will take you to an account creation form, where you will be able to request a new account. After completing the registration fields and submitting, you will receive an email confirmation containing an activation link. Upon activation, you will have full access to the Fabry Indicator website application.
I FORGOT MY PASSWORD
If you have forgotten your password, it is possible to re-set your password using the forgotten password link on the login screen. You will be asked to re-enter your registered email address and will then be sent an email with a re-set link attached. Follow this link to enter a new password.
CAN I EXPORT DATA FROM Fabry Indicator TO OTHER APPLICATIONS?
The Fabry Indicator application allows you to export a CSV (Comma Separated Variables) file of the created Pedigree that can be opened in most spreadsheet software.
There are two ways to do this, when you have a Pedigree open either open the menu and select Export to CSV or click on the download button
that appears above the Family Overview report.
The CSV file is named after your Pedigree and will download to the default downloads folder for your browser.
Please be aware that export is not supported on iOS and the option will not appear.
There are two ways to do this, when you have a Pedigree open either open the menu and select Export to CSV or click on the download button
that appears above the Family Overview report.
The CSV file is named after your Pedigree and will download to the default downloads folder for your browser.
Please be aware that export is not supported on iOS and the option will not appear.
WHY IS THE TOOL NOT WORKING FULLY ON MY MOBILE DEVICE?
Although the tool will work on tablet and mobile devices, the level of functionality required means that it works best on desktop.
To make full use out of the tool we advise you to access the tool via your desktop or laptop.
HOW DO I RECEIVE TECHNICAL HELP?
For technical help please email SUPPORT@IGUAZU.CO.UK
FAQ ABOUT FABRY DISEASE
WHAT IS FABRY DISEASE?
Fabry disease is a progressive, multisystemic lysosomal storage disorder (LSD) in which signs and symptoms can begin in early childhood and may lead to progressive and potentially life-threatening renal, cardiac, and cerebrovascular complications.
Fabry disease is caused by a mutation in the GLA gene that results in complete or partial deficiency in the enzyme α-galactosidase A (α-Gal A) activity. This enzyme deficiency in turn leads to progressive accumulation of a fatty substance called globotriaosylceramide (GL-3 or Gb3).1
Fabry disease is caused by a mutation in the GLA gene that results in complete or partial deficiency in the enzyme α-galactosidase A (α-Gal A) activity. This enzyme deficiency in turn leads to progressive accumulation of a fatty substance called globotriaosylceramide (GL-3 or Gb3).1
WHY IS IT IMPORTANT TO RECOGNISE PATIENTS EARLY?
Fabry disease is a progressive condition. Early identification provides an opportunity to intervene early and potentially reduce the impact of later-onset Fabry disease–related kidney, cardiac,
and cerebrovascular complications.2,3
Fabry disease is underdiagnosed and a thorough pedigree analysis of affected patients is important for index case finding. Screening of the index case’s family may reveal affected relatives at an earlier stage of the disease, before late complications and organ damage have emerged.4
The Fabry Indicator website application displays information on family members who are related to a person with a confirmed diagnosis. Receiving confirmation of Fabry disease is only possible by appropriate genetic testing. To monitor the impact of carrying a GLA mutation, evaluation of clinical symptoms and appropriate laboratory testing (enzyme activity, biomarkers etc.) should be performed on both males and females that are at risk of Fabry disease.
Fabry disease is underdiagnosed and a thorough pedigree analysis of affected patients is important for index case finding. Screening of the index case’s family may reveal affected relatives at an earlier stage of the disease, before late complications and organ damage have emerged.4
The Fabry Indicator website application displays information on family members who are related to a person with a confirmed diagnosis. Receiving confirmation of Fabry disease is only possible by appropriate genetic testing. To monitor the impact of carrying a GLA mutation, evaluation of clinical symptoms and appropriate laboratory testing (enzyme activity, biomarkers etc.) should be performed on both males and females that are at risk of Fabry disease.
WHAT ARE THE DIFFERENT GENE MUTATIONS IN FABRY DISEASE?
More than 800 gene mutations in the GLA gene for Fabry disease have been reported. The known mutations can be classified under classic Fabry disease, non-classic or late-variant Fabry disease, benign polymorphisms, or pseudo deficiencies. A large number of mutations are still not formally classified, which should nevertheless not compromise the appropriate monitoring of disease progression in any individual person. There is a wide phenotypic variability seen including rate of progression, organ involvement and severity of symptoms/manifestations.5
WHAT IS AN INDEX PATIENT (OR PROBAND)?
In human genetics, the patient or member of the family that brings a family under study is referred to as the Index Patient or proband.
With family tree mapping and pedigree analysis, on average 5 additional family members are likely to be diagnosed with Fabry disease for every Index Patient.6
With family tree mapping and pedigree analysis, on average 5 additional family members are likely to be diagnosed with Fabry disease for every Index Patient.6
REFERENCES
- Stamerra C. et al, Adv Pharmacol Pharm Sci. 2021:5548445.
- Oqvist B, et al. Nephrol Dial Transplant. 2009;24(6):1736–1743.
- Najafian B, et al. Pediatr Nephrol. 2013;28(5):679–687.
- Laney DA, Fernhoff PM. J Genet Couns. 2008;17(1):79-83.
- Mehta A, Hughes DA. Fabry Disease 2002. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® Seattle (WA): University of Washington, Seattle; 1993- 2021. Available from: ttps://www.ncbi.nlm.nih.gov/books/NBK1292/.
- Terryn W, Cochat P, Froissart R, et al. Nephrol Dial Transplant.2013;28(3):505-517.
- Clarke JT. Ann Intern Med. 2007. 20; 146(6):425–433
- Havndrup O, et al. Eur J Heart Fail. 2010. 12(6):535–540.
- Linthorst GE, et al. J Med Genet. 2010.47(4):217–222.
- Yogasundaram H, et al. Can J Cardiol. 2017. 33(7):883–897.
- Wang RY, et al. Genet Med. 2007. 9(1):34–45.
- Van der Tol L, et al. J Med Genet. 2014;51(1):1-9.