Fabry disease

Diagnosis and Testing

Is my lipid panel abnormal because I have Fabry disease?

The compounds that builds up in the body with Fabry disease are called globotriaosylceramide (GL-3) and lyso-globotriaosylceramide (lyso-GL3) . Lyso-GL3 and GL-3 is not the same as cholesterol or triglycerides and are not impacted by the food people eat. Having high, harmful "bad" LDL cholesterol or high triglycerides is not part of Fabry disease. However, whether or not someone has Fabry disease, having high triglycerides or LDL cholesterol does increase the risk for a person to have heart problems. So, even though Fabry disease doesn't make it more likely for a person to have high LDL cholesterol issues or dyslipidemia, everyone with Fabry disease should have their cholesterol levels checked so that if it is high it can be treated by their doctor.

For additional questions about these lipid monitoring tests and when they should be scheduled, please refer to a Fabry doctor or genetic counselor. In order to find a Fabry disease specialist or more information on Fabry disease, please refer to the National Fabry Disease Foundation online resource.

Laney et al, Characterization Of Fasting Lipid Profiles in Patients with Fabry Disease, WORLD meeting, 2012.

Cartwright, DJ.; Cole, AL.; Cousins, AJ. & Lee, PJ. (2004). Raised HDL cholesterol in Fabry disease: response to enzyme replacement therapy. J Inherit Metab Dis., Vol. 6, No. 27, (2004), pp. 791-793, ISSN 0141-8955

Clarke JT; Stoltz JM & Mulcahey MR. (1976).Neutral glycosphingolipids of serum lipoproteins in Fabry?s disease. Biochim Biophys Acta., Vol. 2, No. 431, (May 1976), pp. 317-325, ISSN 0006-3002


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