fabry disease in canada: an overview of stats, symptoms and treatments

fabry disease, a rare inherited genetic condition, affects roughly one out of every 40,000 males, with females being affected at twice that rate. the exact prevalence of fabry disease in canada isn’t known , but various estimates put the numbers around 500 people in canada.

according to medline plus, the prevalence rates of fabry disease globally sit between 1 in 1000 and 1 in 9000 people, with milder forms of the disease accounting for more cases. with the steep variations in numbers, it’s hard to determine the exact numbers of the disease both globally and nationally.

what is fabry disease?

• heart attacks
• arrhythmias
• enlarged heart
• heart failure
• kidney failure
• nerve damage
• strokes and transient ischemic attacks (tia, mini-strokes)

• classic
• late-onset/atypical

• feelings of numbness, tingling, burning or pain in the feet or hands
• extreme levels of pain during physical activity
• intolerance to heat or cold
• abnormal eye patterns, known as cornea verticillate
• dizziness
• fatigue, fever, and body-aches that resemble the flu
• gastrointestinal distress, such as constipation, abdominal pain, and diarrhea
• tinnitus, or ringing in the ears
• hearing loss
• proteinuria, or high levels of protein in the urine
• angiokeratoma, which are dark skin lesions that appear on the chest, back, and genital area
• hypohydrosis or anhidrosis, which are little to no sweating, respectively
• edema, which is swelling in the legs, ankles, or feet

• an enzyme assay designed to measure levels of the alpha-gal enzyme
• genetic testing to check for the gla gene mutation
• screenings in newborns

fabry disease survival and treatments in canada

• substrate reduction therapy (srt)
• gene therapy

in people who receive ert, the odds of an improved quality of life are poorly understood. some clinical studies have seen marked improvement after ert with regression of heart disease, namely left ventricular hypertrophy. in contrast, other studies only show a small or no improvement with ert. others have even seen a worsening of the disease, with the walls of the heart thickening gradually over time with ert.

people with fabry disease are often plagued with a lower quality of life and lower life expectancy than the general population. on average, males with fabry live a total of 58 years and females a total of 75 years, compared to the general population of 75 and 80 years for males and females, respectively. due to limited canadian data, these numbers were pulled from the fabry disease news site, which is based in the united states.

many factors go into average life expectancies for people with fabry disease, such as when they were diagnosed, the age at which their symptoms started, and when treatment began. according to research, the most common cause of death in people with fabry disease is cardiovascular disease at a rate of 53.6 per cent in males and 50 per cent in females. other common causes in males include:

• cerebrovascular disease
• renal disease
• infections (sepsis, septicemia, pneumonia)

current fabry disease statistics in canada

the current statistics surrounding fabry disease in canada are scarce due to a lack of research and the sheer rarity of the disease. according to the canadian fabry disease initiative , roughly 469 people in the country have been diagnosed with fabry disease, with the majority residing in nova scotia.

while other studies citing the prevalence rates are severely limited, it’s suggested that numbers of people who have the disease are underestimated. there may be more people living with fabry disease than previously thought or documented. previous estimates place the worldwide prevalence at 1 in 117,000 people.

the currently available research on fabry disease in canada centers around symptoms, treatment viability, and other factors that do not play into the prevalence of the rare disease. one study examined the connection between fabry disease and cryptogenic ischemic stroke (is) and found that 0.3 per cent of young patients who experienced is were found also to have fabry disease.

when looking at the most common complications experienced by canadians with fabry disease, research shows that 42 per cent of people will have cardiac complications, and 38 per cent will experience renal complications. this is further confirmation of u.s.-based studies on fabry complications.

the future of fabry disease in canada