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Diagnosis, Signs and Symptoms |
Pain and Fatigue
Difficult to diagnose, for many patients, the earliest and most troublesome symptom of Fabry Disease is pain. Fabry pain is usually experienced in two ways. There can be a constant pain in the hands and feet called acroparesthesia. This pain can be intermittent or experienced on a daily basis.
Episodes of extreme “burning” pain are usually experienced in the hands and feet, but there can also be sharp pain throughout the body. This is usually referred to as a “Fabry Crisis” and is most likely caused by Gb3 build up in the nervous system. These episodes can be brought on by weather changes such as extreme humidity or high temperatures as well as stress and fatigue.
Reduced or Impaired Ability to Sweat
Gb3 will accumulate in the sweat glands and this causes most Fabry patients to sweat very little or not al all. This can cause fever like symptoms and overheating due to exercise and weather extremes.
Inability to Perform Strenuous Tasks
With the inability to sweat, Fabry patients may become quickly overheated during even mild exercise or strenuous tasks. This may also trigger a pain attack as mentioned earlier.
Patients with Fabry Disease may also develop a particular kind of spotted rash anywhere on the body, but usually found between the belly button and the knees. This rash, known as angiokeratomas is the most visible sign of Fabry. They are a result of Gb3 accumulation in blood vessels
 Eye Involvement
Another common symptom of Fabry Disease is the development of hazy or opaque cornea in the eye, but fortunately this does not affect eyesight and is of little concern.
Hearing
Some Fabry patients experience tinnitus or a ringing in the ears. As well as hearing loss. Fabry patients should be monitored by an audiologist. Gb3 accumulation in the inner ear may be also responsible for the feelings of vertigo and balance problems experienced by many Eabry patients.
Gastrointestinal Problems
Many Fabry patients experience pain, diarrhea, nausea or bloating after eating.
Heart
The accumulation of Gb3 in the heart will thicken the heart wall over time and cause heart and circulatory such as high blood pressure, mitral valve prolapse, enlarged heart, heart attacks, heart failure, arrhythmia and stroke. The first signs of heart problems may be irregular heartbeat or racing with the risks of more severe problems increasing with age.
Kidneys
Gb3 accumulation in the kidneys over time can lead to reduced kidney function and finally, kidney failure. The first signs of kidney involvement is protein in the urine and is easily detected in a urine sample. Gb3 prevents the kidney from filtering the waste products from the blood stream and may lead to requiring dialysis or kidney transplant.
Neurological
Gb3 also accumulates in the small blood vessels in the brain and reports of headaches and vertigo are common. Fabry disease is also thought to increase the risk for TIAs (transient ischemic attacks) or stroke.
Other symptoms associated with Fabry Disease can include chronic bronchitis and shortness of breath, swelling of the legs, osteoporosis, growth retardation and delayed puberty. It is important to note that the symptoms of the disease are variable, no two patients will be affected in precisely the same way.
Psychological IssuesThe majority of society has never heard of Fabry Disease. Because of this, and due to the misunderstanding of the rest of society about the disease, patients may experience depression and feelings of isolation. The feeling of being overwhelmed by new and frightening information about the state of your health can add to this - you will have to digest a great deal of information about your disease. The knowledge that this is an inherited disease may also lead to feelings of guilt about passing on the disease to the next generation.
Parents of patients with Fabry Disease will need to devote special attention to the needs of their children in school and social settings. Parents should be up front with teachers about their child’s disease and physical limitations so that the child’s special needs can be addressed. No child likes to feel like the “the odd one out” in their crowd and steps should be taken to educate and avoid this. Thankfully, the school system is much more accepting than in the past and special needs are not as difficult or unusual as they once were.
Adults with Fabry Disease may be misunderstood in the work setting because they look normal to their colleagues, however, at times their disease may affect their ability to do their job.
Remember that you are not alone. The Canadian Fabry Association offers support to newly diagnosed Fabry patients and those with a long history of living with the disease and we’re there to help you.
MisdiagnosisThe signs and symptoms of Fabry are mistaken for those of other conditions.
Fabry has been mistaken for:
- Multiple sclerosis (especially in women)
- Rheumatic fever
- Raynaud syndrome
- Arthritis
- Irritable bowel syndrome
- Erythromelalgia
- Crohn’s disease
- Ménière syndrome
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