Study Suggests Russian Healthcare Providers May Be Critically Uninformed About Fabry Disease

According to a publication from Fabry Disease News, Russian researchers recently screened over five-and-a-half thousand patients for Fabry disease while they continued with prescribed hemodialysis. The researchers’ study, published in the scientific journal Nephron, prompts important questions about both Fabry disease and the Russian healthcare system.

About Fabry Disease

Fabry disease is a rare genetic disorder characterized by the buildup of globotriaosylceramide in the body’s cells. The gene GLA, found on the X chromosome, normally encodes for an enzyme that breaks down globotriaosylceramide. However, mutations to GLA can render that enzyme useless or absent entirely.

Globotriaosylceramide is a kind of globoside, which is a kind of glycosphingolipid, which is a kind of glycolipid, which are a kind of lipid with a carbohydrate stuck to it. All this to say that globotriaosylceramide (Gb3) is a kind of fat cell that has effects on the chemistry of red blood cells.

Normally, when no longer in use, globotriaosylceramide is broken down in cell lysosomes by an enzyme called alpha-galactosidase A (the one you were just reading about above). However, some individuals are born without any alpha-galactosidase A at all, and their bodies are unable to break down globotriaosylceramide. As globotriaosylceramide builds up, it interrupts normal body functions and causes the numerous symptoms associated with Fabry disease — pain attacks, hypohidrosis (decreased sweat), tinnitus, clouded cornea, and clustering of angiokeratomas among others.

Individuals born without alpha-galactosidase A are said to have “classic” Fabry disease, which is more serious and broadly-reaching in its effects than the late-onset form (caused by low but not absent levels of alpha-galactosidase A).

Screenings Are Cost-Effective for Confirming Diagnoses

The Nephron study was conducted at 157 sites throughout Russia, assessing the health of 5,572 patients undergoing hemodialysis.

The data confirmed some of what scientists already suspected — that Fabry disease was magnitudes more common (over 10x) in men than women, for example. This was no surprise, since Fabry disease is an X-linked genetic condition. Because they have only one X chromosome, men with a mutant GLA gene develop the condition, whereas women may only develop mild symptoms if any (unless both GLA genes were mutated).

What surprised researchers, however, was who of the men were affected. Young (18 to 29) and older (50 to 59) men were less likely to be diagnosed with Fabry disease than men aged 30 to 49.

What was more surprising was the fact that many (80%) of the diagnosed individuals, who were all previously unaware of their condition, had commonly symptoms reported symptoms of “classic” Fabry disease. They reported childhood memories of pain in their hands and feet, sweating abnormalities, and some even had angiokeratomas.

The fact that so many “classic” cases had gone undiagnosed until the Nephron trial suggested widespread unfamiliarity with Fabry disease in the Russian nephrology community. The researchers concluded by advocating for widespread screening of at-risk patients, such as those on dialysis.

How many rare diseases do you think pass under the radar and go undetected before we have a chance to treat them? Share your thoughts with Patient Worthy!

Share this post