Kidney Foundation Opens Effort to Raise Awareness of Fabry Disease

The American Kidney Fund (AKF) has opened a Fabry disease education and awareness campaign that encourages people with chronic kidney disease (CKD) who don’t know the underlying cause of their disorder to get tested for Fabry.

The effort is in partnership with Sanofi Genzyme, and expands on the AKF’s rare disease initiatives helping people better understand rare conditions that can cause kidney disease.

Fabry is an inherited and progressive lysosomal storage disorder characterized by symptoms affecting various organs and systems, including the kidneys. The disease is found in about one of every 80,000 live births annually, although its overall prevalence might be as high as one in 3,000 people, considering late-onset diagnoses.

Like many rare diseases, Fabry remains a severely underdiagnosed or misdiagnosed condition, and one often misunderstood. Most physicians and other healthcare professionals have little knowledge of the disease. As a result, many patients can go through life without knowing the underlying cause of their symptoms.

Others are diagnosed late in the disease process, after irreversible organ damage has occurred. The sooner a patient receives a diagnosis, the sooner treatment can begin and help to maintain or improve their quality of life.

“For patients with a rare condition like Fabry disease, the road to diagnosis and proper treatment can be long and painful,” said LaVarne A. Burton, AKF president and CEO, in a press release. “This partnership with Sanofi Genzyme allows us to expand our educational materials on Fabry disease, increase awareness of the condition, and empower patients with practical guides they can use when discussing their health with their doctors or with their families.”

The organization’s Fabry disease effort uses social media and other platforms to reach and engage patients. The AKF website has educational information about Fabry, including disease symptoms, causes, tests, diagnosis, and its impact on families.

The campaign also underscores the importance of understanding the causes of a CKD diagnosis. A doctor conversation guide can help such patients determine questions they might ask their nephrologist, and whether Fabry could be responsible for their unexplained kidney disease.

While campaign resources are for all patients, the organization will also conduct specific outreach to women, once thought to only be Fabry “carriers.” Both men and women can develop the disease, although symptoms may differ between sexes. That often causes Fabry to be misdiagnosed or under-diagnosed in women.

Sanofi is offering a guide to help patients understand the genetic link in Fabry, since, on average, each patient has five other family members who may also be affected. This guide can help patients explain to their family the importance of getting tested so that Fabry can be diagnosed early.

“Sanofi Genzyme has been a trusted partner with the Fabry community by providing support and education for people living with Fabry disease, their caregivers, and physicians,” said Sarah Ryan, Sanofi Genzyme’s head of Fabry and MPS I, and renal marketing. “We are excited to launch this educational campaign to increase the awareness of Fabry disease within the CKD community.

“We hope these educational materials will help those who are living with Fabry, as well as those who might be at risk for Fabry.”

Sanofi markets Fabrazyme (agalsidase beta), an enzyme replacement therapy for Fabry patients, and sponsors and maintains the Fabry Registry, a patient database aiming to better understand disease variability and progression, and to monitor and evaluate Fabrazyme’s long-term effectiveness.