Researchers from the University of Alabama recently published data in the Journal of American Society of Nephrology suggesting that a combination of enzyme replacement therapy (ERT) plus two types of blood pressure lowering medications (ACE inhibitors and ARB’s) can lead to a stabilization of the kidney disease caused by Fabry’s disease. Previous research hasn’t shown ERT to be overwhelmingly effectively at decreasing the protein in the urine (proteinuria) and progressive kidney failure seen with Fabry’s disease. The addition of medications known to effective in reducing protein in the urine and prolonging kidney failure makes a lot of sense, especially since Fabry’s shares some characteristics seen with diabetic kidney disease.

Although the results from this small study seem to be significant, we must keep in mind that the research was done by consultants for one of the companies selling the very expensive ERT therapy (over $200,000 per year). If someone is already receiving ERT, adding the relatively inexpensive ACEI/ARB therapy seems reasonable, assuming their blood pressure doesn’t drop too low (which can be a real problem). However, it is not yet proven that the combination therapy is leading to a synergistic benefits not obtain from either by themselves. Personally, I would like to see the results confirmed by a larger and more powerful study performed by researchers without financial ties to the drug companies producing ERT.

Fabry’s disease is a rare genetic disorder leads to accumulation of sugar-fat substances (glycolipids) in many tissues and organs. It is caused by a defect in a gene found on the X chromosome leading to a deficiency in the enzyme that helps break the glycolipids down. Normally glycolipids are helpful because they help cells recognize each other and provide a source of energy, but when there is too much, it can lead to a wide variety of problems, especially kidney disease. Although enzyme replacement therapy (ERT) has been developed, it is very expensive and it is not a cure for the disease.