Management of Fabry Disease
Management of Fabry disease often focuses on addressing the associated cardiovascular, kidney, and gastrointestinal symptoms as well as pain management and issues with hearing. In some cases medications, medical procedures, or surgeries are necessary. Currently, there is no cure for Fabry disease, but research is ongoing to develop medication(s) focused on treating the genetic cause of the disease.
There are two parts of treatment that require consideration in Fabry disease: the management of symptoms and the clinical management of the disease itself.
First, it is important that the different signs and symptoms of Fabry disease are managed to prevent discomfort and to maintain quality of life. For additional information on managing Fabry disease, please see the Managing Fabry Disease fact sheet and Well-being fact sheet.
Symptom management will vary on an individual basis and may include the treatments below
Pain
Pain is an early and debilitating symptom of Fabry disease. The pain experienced by Fabry patients often does not respond to standard pain relief medication. Those pain medications which are effective at providing relief usually require continuous use and have considerations related to side-effects. A physician will advise patients on the most appropriate pain relief on an individual basis. Certain lifestyle choices may also be helpful in minimizing painful episodes.
For additional information about Fabry disease and pain please see the Peripheral Nervous System fact sheet.
Skin
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.
For more information about the impact of Fabry disease on the skin, please see the Skin fact sheet.
Gastrointestinal Symptoms
The gastrointestinal symptoms of Fabry disease such as diarrhea, 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. In addition, planning the frequency and type of meals can be helpful in limiting discomfort.
For further explanation about Fabry disease and gastrointestinal symptoms, please see the Gastrointestinal Tract fact sheet.
The Kidneys
Because damage to the kidneys happens quite slowly, the type of treatment will depend on the severity at the time of diagnosis. Regular evaluations should be undertaken to monitor the progress of any kidney damage. A doctor may also prescribe medications to address kidney function on an individual basis. 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.
For more information about Fabry disease and the kidneys please see Kidneys fact sheet.
The Heart
Heart problems can vary in type and severity in Fabry disease. A variety of drug treatments are available to manage heart symptoms and patients will be prescribed the appropriate treatment after an individual assessment. 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 patients with Fabry disease have routine heart evaluations as part of a symptom management program.
Additional information about the impact of Fabry disease on the heart and blood vessels can be found in the Heart fact sheet and Blood Vessels fact sheet.
Stroke
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 ischaemic 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. Since ischaemic stroke is more common in Fabry disease, anti-blood clotting drugs may be prescribed. There are also a number of self-management choices patients can make to help reduce the risk of stroke.
More information about the impact of Fabry disease on the brain and central nervous system, please see the Central Nervous System fact sheet.
Hearing
Studies show that hearing loss is more common in 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.
For additional information about Fabry disease and hearing, please see the Ears fact sheet.
Who Can Help?
The variety of signs and symptoms associated with Fabry disease means that both its diagnosis and treatment require input from a number of different healthcare specialists.
Patients may be referred to a specialist center or genetic laboratory for confirmation of the diagnosis. This may be because another member of the family has been diagnosed, or because a certain combination of symptoms may have lead a doctor to suspect Fabry disease in a particular patient.
Once a diagnosis of Fabry disease has been made, referral to a specialist center for coordinated consultations and ongoing treatment is initiated.
A number of doctors, nurses, therapists and counselors may be involved in the management of Fabry disease:
For additional information about healthcare providers involved in managing Fabry disease, please see the Managing Fabry Disease fact sheet.
Healthcare Provider
Local healthcare providers play an important role as they are likely the first people with whom Fabry patients discussed their symptoms. Despite referral to specialists, primary care physicians will continue to be responsible for day-to-day healthcare and should be kept informed about the treatments Fabry patients are receiving at the specialist center.
Specialists in Metabolic Diseases and Lysosomal Storage Disorders
These are hospital doctors experienced in genetics who specialize in diseases that affect how the body makes and breaks down substances. These specialists will often be the doctors who confirm a diagnosis of Fabry disease and coordinate a patient's management and treatment.
Geneticist
A geneticist specializes in inherited and genetic diseases. They will often be involved in confirming the initial diagnosis of Fabry disease and may be consulted during the ongoing management program.
Other Specialist Doctors
As part of the initial check-up at the specialist center, as well as at various times during care, a patient may be advised to visit different physicians who focus on certain areas. These include (and there may be others):
- Nephrologist — kidneys
- Cardiologist — heart
- Dermatologist — skin
- Ophthalmologist — eyes
- Neurologist — nervous system
- Psychiatrist — mental health
Also, it is possible that it was a physician who specializes in one of these areas who first identified that you may have Fabry disease.
Specialist Nurses
Patients may be assigned to a specialist nurse who has expertise in Fabry disease and other lysosomal storage disorders (LSDs). The nurse will potentially be the person with whom patients and their families have the most contact. They may also be responsible for organizing and monitoring treatments.
Counselors
Genetic counseling may be offered, particularly if a person who has been diagnosed with Fabry disease has concerns regarding other family members, or if they are considering starting a family.
Support Network
As discussed previously, it is very important to develop a support network, on which patients can rely for additional support, information and help.