Symptom Management of Fabry Disease

Symptom management

Despite the availability of disease-specific treatment, symptomatic therapy continues to play an important role in the management of Fabry disease. Some of the adjunctive therapies used by patients with Fabry disease are shown in the table below.

Table 1. Symptomatic therapies used in patients with Fabry disease.1-3

Symptom Therapies
Proteinuric renal disease Angiotensin converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARB)
Endothelial dysfunction, thrombotic events ACE inhibitors, calcium channel blockers, anti-platelet agents
Dyslipidemia Statins
Neuropathic pain Anticonvulsants and other analgesic agents
Stroke Platelet-inhibiting agents
Gastrointestinal symptoms Antiemetics, H2 blockers

Lifestyle modifications can also help manage symptoms. Patients should avoid factors that trigger or exacerbate pain, such as exertion and extremes of temperatures, and maintain hydration to minimise heat exhaustion.2

Self-monitoring of pain is recommended to help patients adopt appropriate lifestyle modifications. A Fabry Pain Diary app has been developed to aid patients with self-monitoring and assist their health care professionals in managing and treating their condition.

Interventions such as renal transplantation and cardiac pacemaker insertion are often necessary to delay serious complications due to organ damage.2

References

  1. 1. Eng CM, Germain DP, Banikazemi M, et al. (2006) Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 8(9): 539-548.
  2. 2.El-Abassi R, Singhal D, England JD. (2014) Fabry's disease. J Neurol Sci 344(1-2): 5-19.
  1. 3.Hopkin RJ, Jefferies JL, Laney DA, et al. (2015) The management and treatment of children with Fabry disease: A United States-based perspective. Mol Genet Metab.