Symptoms you can and can’t see:
Even “controlled” Fabry may be affecting you
Symptoms of Fabry disease can affect many different parts of the body.¹ The first clinical symptoms may arise in childhood, typically between the ages of 3 and 10 years, and generally a few years later in girls than in boys.² With age, progressive damage to vital organ systems develops in both genders.² It is important to remain aware that clinical vigilance and regular monitoring are essential, as an absence of symptoms at baseline or at follow-up assessment does not preclude subsequent development of organ complications.¹
Signs and symptoms of Fabry disease include2:
Symptoms can also affect vital organ systems1:
Chronic kidney disease
Left ventricular hypertrophy and arrhythmias
Risk of stroke and transient ischemic attacks
Please note this list contains examples of Fabry symptoms. It is important to talk to your doctor as your symptoms may be different to others with Fabry disease.
Fabry disease is a lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A, leading to accumulation of a type of fat called globotriaosylceramide in various cell types throughout the body.³ This can result in multisystem disease, mainly affecting the kidneys, heart, and nervous system.³
Specialists in many different fields may work together to understand how to monitor and treat your individual symptoms. Your healthcare team may include a neurologist, nephrologist, cardiologist, medical geneticist, genetic counsellor, psychologist, and nurse.¹
Women were once thought to be only carriers of the gene defect causing Fabry disease, who would not develop symptoms.² Now it is known that females are also at risk of developing severe disease manifestations.⁴
Disease expression in women is variable – female patients may have no symptoms at all or experience disease manifestations as severe as those in classically affected males. However, onset of first symptoms and adulthood complications generally occur at a later age as compared with males.⁴
Experts now recognise that it is important to monitor symptoms in women in a similar way to men.¹
Now that treatments are available for Fabry, prompt and accurate diagnosis is important so that patients can be identified and treated before incurring irreversible organ damage.⁵ An expert panel of Fabry specialists has recognised growing evidence that starting treatment early may improve the clinical response.¹
What tests are used to diagnose Fabry?
There are two types of test typically used for Fabry disease – a test to measure activity of the α-galactosidase A enzyme and a genetic analysis to identify the GLA gene mutation.
STARTING TREATMENT EARLY MAY IMPROVE YOUR RESPONSE TO TREATMENT¹
This website is intended to inform healthcare professionals about the pathogenesis of Fabry disease and to provide insights in the burden of this disease. With this information we strive to support and where possible enhance the treatment of patients suffering from this debilitating disease.
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