What kind of support is recommended for patients with Fabry disease and their families?
Fabry disease can affect patients both emotionally and physically, as well as their families. In order to support the patient and provide them with a better understanding of Fabry disease, genetic counselling may be made available for patients and their families by a medical geneticist or a counsellor following diagnosis.1 At the initial genetic counselling consultation, it is recommended that patients with Fabry disease be provided with information regarding support groups and additional resources in order to further their understanding of Fabry disease and reduce any possible feelings of isolation.1 Support can be made available to the patient and their family throughout their lifetime, particularly during the transition from paediatric to adult care. A strong relationship may be formed between the child and the treating physician, which can make the transition process to adult care difficult. Therefore, a consultation can be arranged to provide information surrounding this transition.2
Patient support groups
Depending on the resources of a patient support group, the organisation may be able to provide the following support3,4:
- Disability benefit applications
- Special needs education
- Home adaptation
- Sibling support
- Bereavement counselling
- Equipment and holiday grants
- Independent living
- Respite care
- Social support, e.g., with regards to life insurance and health benefits.
Patient organisations may also offer a listening service to enable patients and their families to discuss concerns and issues.3
In one study, 31 out of 81 patients with Fabry disease surveyed reported depressive symptoms, which frequently related to pain and negative health perceptions.5 Patients with Fabry disease may have experienced many years of misdiagnoses. Therefore, the psychological impact of a delay in Fabry disease diagnosis may result in depression even when a diagnosis is eventually reached. The implications and natural history of the disease may also replace the initial relief of finally identifying the disease.4 Consequently, psychiatric and psychosocial assessments during routine examinations of patients with Fabry disease may be beneficial, as early prevention of psychiatric disorders can improve quality of life.6 Patients with Fabry disease who present with depressive symptoms may also be referred to psychologists with knowledge of chronic diseases.4,5
Genetic counselling may be offered to patients with Fabry disease and their families in order to understand the X-linked genetic inheritance of the disease and identify at-risk family members.1,7 Genetic counsellors should also ensure that patients understand that females are not just heterozygotes of Fabry disease and can be significantly affected by the disease.1,7-9 Due to the psychosocial issues that surround a diagnosis of Fabry disease, genetic counsellors can also discuss the possible denial of disease progression and anxiety or guilt of passing on the disease to children.1,7
During genetic counselling sessions, discussion points may include7:
- Understanding the patient’s needs and concerns in relation to their diagnosis of Fabry disease
- Identification of at-risk family members through construction of a pedigree analysis and diagnostic testing
- Explanation of the natural history and inheritance pattern of Fabry disease to the patient
- Genetic testing pre- and post-counselling, which may include any issues of non-paternity
- Navigation of personal and family testing (alpha-galactosidase A [α-Gal A] and GLA gene analysis)
- Assessment of the patients’ psychosocial issues, as well as discussions related to prenatal testing and decision-making
- Identification of appropriate support resources for the patient.
It is recommended that genetic counselling be offered pre-conception to discuss the X-linked genetic inheritance of Fabry disease. Many reproductive options are available to patients with Fabry disease and may include pre-implantation genetic diagnosis to select unaffected embryos. Prenatal diagnosis using cultured amniocytes or chorionic villi for molecular testing can also be discussed with patients.1
C-ANPROM/INT/FAB/0017; Date of preparation: March 2021
- 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, Fouilhoux A, Decramer S, et al. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients. Clin Genet 2019; 96: 107-117.
- Lavery C. Role of patient support groups in lysosomal storage diseases. In: Mehta A, Beck M, Sunder-Plassmann G, eds. Fabry Disease: Perspectives from 5 Years of FOS. Oxford, UK: Oxford PharmaGenesis, 2006.
- Hughes DA, Evans S, Milligan A, et al. A multidisciplinary approach to the care of patients with Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, eds. Fabry Disease: Perspectives from 5 Years of FOS. Oxford, UK: Oxford PharmaGenesis, 2006.
- Körver S, Geurtsen GJ, Hollak CEM, et al. Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain. Orphanet J Rare Dis 2020; 15: 28.
- Müller MJ. Neuropsychiatric and psychosocial aspects of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, eds. Fabry Disease: Perspectives from 5 Years of FOS. Oxford, UK: Oxford PharmaGenesis, 2006.
- Laney DA, Bennett RL, Clarke V, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns 2013; 22: 555-564.
- Echevarria L, Benistan K, Toussaint A, et al. X-chromosome inactivation in female patients with Fabry disease. Clin Genet 2016; 89: 44-54.
- Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008; 93: 112-128.