There are two parts of treatment that need to be considered in Fabry disease: the management of symptoms and also the clinical management of the disease itself. It is extremely important that a person with Fabry disease is seen by a ‘Fabry Expert’ at one of the Australian Fabry Treatment Centres. Doctors at these centres monitor Fabry disease and understand the symptoms and typical treatment of this disease.
In the first instance, it is important that the different signs and symptoms of Fabry disease are managed to prevent discomfort, and to maintain quality of life. Symptom management will vary on an individual basis, but here is an outline of the types of treatments you might come across:
Pain is an early and debilitating symptom of Fabry disease. The pain experienced by Fabry patients often does not respond to usual pain relief medication. Those that are more effective at pain relief usually require continuous use and so there are considerations relating to possible side-effects. If the pain is particularly severe, stronger opiate-based pain relief may be necessary. Your physician will advise on the most appropriate pain relief for your particular case. There are also lifestyle choices you can make to minimise painful episodes.
The skin rashes (angiokeratomas) associated with Fabry disease do not usually cause discomfort, but may bleed in some rare cases. For cosmetic correction, these may be removed with laser treatment.
The gastrointestinal symptoms of Fabry disease such as diarrhoea, vomiting and nausea are similar to those associated with irritable bowel syndrome. To relieve symptoms, drug treatments that speed up the emptying of the stomach may be prescribed.1 In addition, planning the frequency and type of meals you eat can be helpful in limiting the discomfort.
Because damage to the kidneys can happen quite slowly, the type of treatment will depend on its severity at the time of diagnosis. Regular evaluations should be undertaken to monitor the progress of any kidney damage. If there is not too much damage, medicines such as ACE inhibitors may be used.1 Following a low-sodium, low-protein diet may also help.
If the kidneys are no longer able to function adequately, dialysis may be necessary. This is the process whereby toxins and excess water are removed from the blood artificially with the help of a dialysis machine. In severe cases, a kidney transplant will usually improve the patient’s renal (kidney) function, but the Fabry disease itself will still be present in other organs.
Heart problems can vary in type and severity in Fabry disease. These problems can be treated with medication, as would be the case for anyone with heart symptoms. A variety of drug treatments are available, and your doctor will prescribe the appropriate treatment. If drug treatment is not enough, and symptoms worsen, bypass surgery may be necessary. For severe heartbeat irregularities, a pacemaker may be fitted to help regulate the heart’s rhythm. It is highly recommended that if you have Fabry disease you have routine evaluations of your heart as part of your symptom management programme.
A stroke is essentially what happens when the blood supply to part of the brain is cut off. There are two main causes of stroke. The most common cause is a blockage which happens when a blood clot blocks an artery carrying blood to the brain. This is called an ischemic stroke. The second type of stroke is called a haemorrhagic stroke and it occurs when a blood vessel in the brain bursts, causing bleeding into the brain. As strokes are potentially life threatening, their prevention is an important part of any management approach for people with Fabry disease. As ischemic stroke is more common in Fabry disease, anti-blood clotting drugs may be prescribed. There are also a number of self-management choices you can make to help reduce the risk of stroke.
Studies show that hearing loss is more common amongst people with Fabry disease than in the general population. Hearing loss is usually gradual, but it has been known to be quite sudden in some patients. Consequently, a hearing aid may be necessary. Tinnitus (ringing in the ears) is also common in Fabry disease.
- Hughes DA, et al. Guidelines for the diagnosis and management of Anderson-Fabry disease. Department of Health, 2005.
- Germain DP, et al. BMC Medical Genetics 2002; 3: 10.