Studying Lipids as Potential Biomarkers in Patients With Fabry Disease

Lipidomics for Identification of New Biomarkers for Fabry Disease

Compare levels of lipids between well characterised enzymatically-genetically-phenotypically patients with Fabry disease and healthy controls (with no Fabry disease).

Correlate levels of lipids in patients with Fabry disease to clinical outcomes/manifestations of the disease.

The hypothesis is that Sphingosine-1 Phosphate (S1P) or any other related sphingoid bases and/or other lipid class could be a marker of the severity of cardiovascular remodelling in Fabry disease.

The overall approach is, by minimising possible pre-analytical and analytical biases, to study by lipidomics in well characterised enzymatically, genetically and phenotypically patients with Fabry disease, if S1P or any other lipid (including other glycosphingolipids) is shown to be a biomarker for the diagnosis, monitoring of disease activity and prognosis (including cardiovascular outcomes).

Inclusion criteria for cases:

• Adult men and women
• Well characterized Fabry disease in terms of i. alpha-Gal A enzyme activity, ii. mutation in alpha-Gal A (GLA) gene, and iii. disease manifestations
• Followed at one of the 3 centers for patients with Fabry disease in Sweden (Karolinska in Stockholm, Sahlgrenska in Gothenburg, Akademiska in Uppsala)

Signed informed consent prior to sample collection is mandatory for inclusion to the study.

Inclusion criteria for controls:

• Adult men and women
• Followed/treated at the endocrinology or nephrology in- or out-patient clinic at Sahlgrenska University Hospital in Gothenburg
• Matched for age, sex, estimated Glomerular filtration rate (eGFR) with the cases with Fabry disease

Exclusion criteria for controls:

• Fabry disease
• Liver disease with elevated transaminases
• Ongoing infection