Prof. Gheona Altarescu, Director of the Pre-Implantation Genetic Diagnosis (PGD) Laboratory at Shaare Zedek’s Fuld Family Department of Medical Genetics is one of two internationally regarded experts on the Fabry disease. Presenting at the 2nd International Congress on Advanced Treatments in Rare Diseases in Vienna, Prof. Altarescu showed recent studies indicating that Fabry disease is significantly more common than previously thought and encouraged attendees to consider the importance of newborn screenings to better understand this disorder.
It could take 10-20 years to properly diagnose a Fabry patient since some of the symptoms–abdominal pain, nausea, diarrhea and fatigue, closely resemble the symptoms of other rare diseases,. People suffering from Fabry typically feel pain in their fingers and their toes in childhood.
The gene involved in Fabry disease is situated on the X chromosome. Since women have two x chromosomes, they usually experience milder symptoms or none at all. However, women have a 50% risk of passing a mutated gene to their children. Patients with Fabry experience extreme fatigue making social activities more challenging, they also have difficulty sweating which makes it hard to participate in sport, while they have normal levels of intelligence, the disease may lead to depression,…
Fabry patients can be divided into three groups. About 12% of females with Fabry are completely asymptomatic, roughly 74%, are symptomatic but to a lesser degree and the remaining 14% behave like their male counterparts and they could have equally severe Fabry disease. In the past, Fabry patients generally died of end-stage renal disease, however, today, many receive kidney dialysis and kidney transplants. Today, the leading cause of death among Fabry patients is cardiac or stroke-related.
Male Fabry patients have a life expectancy of 58 years, while women with the disease have an average life expectancy of 75.
Prof. Altarescu treats all 40 of Israel’s known patients with Fabry disease. She shared, “Ashkenazi Jews, Sephardi Jews, Arabs, Christians — all can have it,” she said. “Throughout the world, the classic phenotype for Fabry occurs in about 1 in 50,000 births, but if you read the papers related to neonatal screening, you see the prevalence is more like 1 in 3,000 — showing that there are actually many late-onset patients who are very mild or asymptomatic…You can diagnose a patient genetically at birth, but there may be no symptoms until age 70 when more people have strokes…I think the dogma for many rare genetic disorders should be changed now, based on newborn screening and trying to understand the natural history of these disorders. “For recessive disorders, it’s unclear whether carriers are really completely healthy people as we thought. It’s revolutionary. We have to change everything we learned.”
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