Neuropsychology and ophthalmology
When you should suspect Fabry disease?
The information on this page is tailored for neurologists, ophthalmologists and mental health professionals. For more detailed information on the cause, inheritance, diagnosis and management of Fabry disease, please refer to our ‘About Fabry disease’ page.
Neuropsychology and ophthalmogical
signs in Fabry disease
In your specialty, you are likely to see the earliest manifestations of Fabry disease such as neuropathic pain, dyshidrosis, heat and cold intolerance, and corneal verticillata starting as early as the first decade of life.1
If you are a mental health practitioner, you will be in a unique place to consider the wider presentation of Fabry disease, including chronic signs which my lead to a referral. Along with these symptoms, presence of any of the following should lead you to consider Fabry disease:
- Transient ischaemic attack
- Headaches
- Stroke
- Dizziness
- White matter lesions
- Pain – may be triggered by physical activity, cold/heat, fever or stress
- Vascular dementia
- Increased conjunctival vessel tortuosity
- Cognitive decline
- Corneal verticillata
- Depression
- “Fabry” cataract
TIA: transient ischaemic attack. Adapted from Ortiz et al 2018, Germain 2010 and Sodi et al 20061-3
This table shows the prevalence of Fabry disease reported from studies in patients with stroke or cryptogenic ischaemic stroke.
| Study* | Sample characteristics |
Prevalence of Fabry disease |
|---|---|---|
| Studies in young patients with cryptogenic ischaemic stroke | ||
| Dubuc et al., 20134 | 100 patients (age 16 – 55 years) | 1% (95% CI: <0.01%, 6%) |
| Wozniak et al., 20105 | 558 males (42% African American; age 15 to 49 years) | 0.18% of all strokes in males; 0.65% of cryptogenic strokes in males |
| Studies in patients with stroke | ||
| Shi et al., 20146 | Systematic review of five studies with 7143 patients. Systematic review of five studies with 1230 patients | 0.4% to 2.6% in patients with stroke of any cause. 0.6% to 11.1% in patients with stroke of unknown cause |
*Note, screening methodology varied in these studies
Furthermore, identifying symptoms beyond neurological involvement is critical to establishing a diagnosis.
Non-neurological manifestations may include:
Cardiac
ECG abnormalities (shortened PR interval, arrhythmia), angina, myocardial infarction, LVH, heart failure
Renal
Proteinuria and progressive renal failure
Gastrointestinal
Abdominal pain (often after eating), nausea, vomiting
Ophthalmologic
Cornea verticillata, retinal tortuosity
Otolaryngologic
Dizziness/vertigo, tinnitus
Dermatologic
Angiokeratoma and dyshidrosis
ECG: electrocardiogram; LVH: left ventricular hypertrophy
Adapted from Germain 2010.2
Ultimately, referral to nominated ultra-specialist centres is required so that patients can access full genetic testing and access to disease-specific therapies.
The figure below displays the centres that specialise in the testing and management of Fabry disease.
Click on each pin on the map to learn more.
Tap on each pin on the map to learn more.
NP-NN-UKI-00041024
October 2024
- Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123:416–427.
- Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
- Sodi A, Ioannidis A & Pitz S. Ophthalmological manifestations of Fabry disease. In: Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis; 2006.
- Dubuc V, Moore DF, Gioia LC, et al. Prevalence of Fabry disease in young patients with cryptogenic ischemic stroke. J Stroke Cerebrovasc Dis. 2013;22:1288–1292.
- Wozniak MA, Kittner SJ, Tuhrim S, et al. Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke. 2010;41:78–81.
- Shi Q, Chen J, Pongmoragot J, et al. Prevalence of Fabry disease in stroke patients – a systematic review and meta-analysis. J Stroke Cerebrovas Dis. 2014;23:985-992.
4.
Ophthalmology and Fabry disease
6.
Management of Fabry disease
