Symptoms you can and can’t see:
Even “controlled” Fabry may be affecting you

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:

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.

• 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

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.