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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

 

What are the Fabry symptoms that you may experience?

Signs and symptoms of Fabry disease include2:

  • Episodes of burning pain originating in the hands and feet and spreading inwards. These pain episodes are sometimes called ‘Fabry crises’ and may be triggered by fever, exercise, fatigue, stress or rapid changes in temperature
  • Absence of sweating or a decreased ability to sweat
  • Abdominal pain (often after eating), diarrhoea, nausea, and vomiting
  • Chronic fatigue
  • Difficulty gaining weight
  • Angiokeratoma (skin lesions) and clusters of small reddish purple, raised skin lesions

Symptoms can also affect vital organ systems1:

 

    KIDNEY

    KIDNEY
    Chronic kidney disease

    HEART

    HEART
    Left ventricular hypertrophy and arrhythmias

    BRAIN

    BRAIN
    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 is a multisystemic 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

Fabry disease may affect women differently

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

Testing and diagnosis is the first step towards control

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

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.

  • Male patients can be diagnosed with the enzyme activity test measuring α-galactosidase A activity. However, genetic analysis to confirm the disease-causing GLA mutation is important for several reasons, including that it can permit the testing of at-risk family members¹
  • In female patients, genetic analysis to demonstrate the presence of a disease-causing mutation in the GLA gene is required as their plasma enzyme activity is often found within the normal range¹

STARTING TREATMENT EARLY MAY IMPROVE YOUR RESPONSE TO TREATMENT¹

References: 

  1. Ortiz A, et al. Mol Genet Metab. 2018;123(4):416-427.
  2. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
  3. Arends M, et al. J Am Soc Nephrol. 2017;28(5):1631-1641.
  4. Martins, AM, et al. The Journal of pediatrics. 2009;155(4): S19-S31. 5. Desnick RJ, et al. Ann Intern Med. 2003;138(4):338-346.

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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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