Neuropsychology and ophthalmology
Psychology and 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.
Frequency of depression in Fabry disease
Psychological difficulties are common in Fabry disease. Patients have been found to score significantly worse than the general population on measures of both depression and anxiety, placing them in the lower quarter of the population for mental health.
Other psychiatric conditions such as psychosis and personality changes have also been documented.1 Importantly, these complications also extend to children, especially in classic-onset Fabry disease where disease manifestations arise in the first decade of life. Children with Fabry disease are known to experience poorer quality of life compared to their healthy counterparts.2,3
The largest survey assessing depression in Fabry disease (n=184) found that 46% of respondents had clinically significant depression, with 28% suffering from severe depression.4 Further to this, the only study investigating psychological manifestations of Fabry disease in children found that 21% reported symptoms compatible with clinical depression.4
Factors associated with depression
It is difficult to know whether depression in Fabry disease arises from pathophysiology of the disease itself, or from difficulties in coping with the severe and variable symptoms.4
Most studies analysing depression in Fabry disease have linked its occurrence to both disease-specific and non-specific factors. Among the former, neuropathic pain has been independently associated with depressive symptoms. Another study identified that life interference due to disease symptoms was the strongest predictor for the development of depression and other psychiatric disorders, and that severe painful neuropathy, pain crises and anhidrosis were the most significant symptoms driving this association.4 Non-disease-specific factors associated with depression in Fabry disease include being single, being divorced/widowed, having financial difficulties and perceiving a lack of social support.4 In children, depression is most likely explained by the psychological distress related to living with a chronic, progressive, painful illness.4
Neurobiology of pain and depression
The relationship between neuropathic pain and depression in Fabry disease is highly important and represents a clear neurobiological matrix.4 We know that in classic-onset Fabry disease, pain is frequent, occurs early and is often severe. As a biologically complex phenomenon, pain activates several brain regions within the limbic system that overlap with emotional processing centres that are also affected in depression. Over time, chronic pain may lead to functional and structural alterations in these areas of the central nervous system, contributing to the presence of depressive symptoms.4
- Bolsover FE, Murphy E, Cipolotti L, et al. Cognitive dysfunction and depression in Fabry disease: a systematic review. J Inherit Metab Dis. 2014;37:177–187.
- Bugescu N, Naylor PE, Hudson K, et al. The psychosocial impact of Fabry disease on pediatric patients. J Paediatr Genet. 2016;5:141–149.
- Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
- Chertcoff A, Cejas LL, Marchesoni C, et al. Depression: the hidden problem in Fabry disease. J Inborn Errors. 2021;9:1–7.
Neurology and Fabry disease
Ophthalmology and Fabry disease