Signs and Symptoms of Fabry DiseaseNext Topic
A wide variety of signs and symptoms are associated with Fabry disease. A person with Fabry disease may not experience all symptoms and the severity can vary from person to person. This is why Fabry disease is such a difficult condition to diagnose, although a detailed family history is often helpful. As Gb3 builds up, symptoms and health problems tend to get progressively worse.
For more information on the Signs & Symptoms associated with Fabry disease please see the Signs & Symptoms fact sheet.
Pain
One of the first symptoms which often begins in childhood is a painful burning sensation in the hands and feet called acroparesthesia. The pain can be severe and worsen with exercise, stress, illness, and variations in temperature. However, because pain is associated with many ailments, a different diagnosis may initially be given.
Additional information about Fabry disease and pain can be found in the Peripheral Nervous System fact sheet.
Stomach and Intestines
Early gastrointestinal symptoms of Fabry disease include abdominal cramps, frequent bowel movements shortly after eating, diarrhea, and nausea.
Further explanation about Fabry disease and gastrointestinal symptoms can be found in the Gastrointestinal Tract fact sheet.
Skin Conditions
A common skin condition associated with Fabry disease is a red, non-painful rash known as angiokeratoma. It usually appears in the area between the belly button and the knees, but may also appear on other parts of the body such as the lips, tongue, hands and toes. Additionally, it may be confined to a small area of the body, or may affect a larger area (see examples below).
For more information about the impact of Fabry disease on the skin, please see the Skin fact sheet.
Example of angiokeratoma around the belly button. Reproduced courtesy of Dr Thomas Jansen.
Example of angiokeratoma around the buttocks. Reproduced courtesy of Dr Thomas Jansen.
Individuals with Fabry disease may also experience hypohidrosis or anhidrosis which is a decreased ability, or complete inability, to sweat that often results in heat sensitivity and/or difficulty in coping with physical exercise. In contrast, some individuals may experience too much sweating (hyperhidrosis).
Eyes
The surface layer of the eye (cornea) may appear abnormal when examined using special equipment from an optician or an eye specialist (ophthalmologist). This unique appearance of the cornea is called cornea verticillata and while it does not affect vision, it may become more obvious with time. Cornea verticillata occurs in approximately three-quarters of patients with Fabry disease and may be a reliable indicator of the condition.
Additional information about Fabry disease and the eyes can be found in the Eyes fact sheet.
Example of cornea verticillata. Reproduced with permission from Sodi et al, 2006.
Ears
Most patients with Fabry disease will have some degree of hearing loss at some point which can either come on suddenly or develop over a period of time. Some individuals experience a ringing in the ears that is called tinnitus.
Additional information about Fabry disease and hearing can be found in the Ears fact sheet.
Kidney
Many individuals with Fabry disease experience kidney problems, commonly beginning in adults in their mid-30s. Abnormally functioning cells in the kidney weaken the kidneys' ability to filter waste from the blood to create urine. When the kidneys cannot properly filter waste, excess protein begins to appear in the urine - a condition know as proteinuria. Over time, kidney damage may progress to the point that the kidneys lose some or all ability to function, requiring dialysis or transplant.
Heart
The heart abnormalities often described with Fabry disease include changes in the size of the heart (left ventricular enlargement), irregular heartbeat, and leaky heart valves. Such problems increase the risk of further heart complications.
More information about the impact of Fabry disease on the heart and blood vessels can be found in the Heart fact sheet and the Blood Vessels fact sheet.
Brain and Nervous System
Excess Gb3 may disrupt normal blood flow in the brain which results in stroke like symptoms called transient ischemic attacks (TIAs) and in some cases, actual strokes.
More information about the impact of Fabry disease on the brain and central nervous system can be found in the Central Nervous System fact sheet and in the Blood Vessels fact sheet.
Onset of Signs and Symptoms
In Fabry disease, Gb3 accumulates over time and therefore some signs and symptoms may not appear until a person gets older, although symptoms have been reported in children as young as two years old.
Pain, skin rashes, heat intolerance, stomach upsets, fatigue, lack of energy and the inability to exercise are generally the first signs and symptoms to appear. Because these symptoms are not specific and can be associated with other conditions, it may take many years for a diagnosis of Fabry disease to be made. In fact, up to 25% of patients are misdiagnosed.
Kidney, heart and brain problems tend to become noticeable between the ages of 30 to 45 and it is at this point that many individuals with Fabry disease are first diagnosed.
Average age when symptoms start to appear in males.
Start of darker blue bars is the mean (average) age at onset. Ends of the bars denote the standard deviation (a measure of the range of values) from the mean.
The average delay of twelve years between the onset of symptoms and a confirmed diagnosis of Fabry disease is of particular concern since early diagnosis is essential for good symptom management. There is commonly a delay in diagnosis in both males and females, although the onset of symptoms tends to occur about approximately 5-10 years later in females than in males. Early diagnosis is also important in helping to identify other affected family members. Finally, individuals with Fabry disease have a reduced life expectancy of approximately 20 years in males and 15 years in females.
Life Stages
Because the progression of Fabry disease varies from person to person it also means that symptoms appear at different ages and with differing severity. It is therefore important to consider the different symptoms and to understand their impact at different stages of life.
Infants
Young children with Fabry disease most often present with pain and heat-related intolerance. Parents should therefore be careful not to expose young children with Fabry disease to extremes of temperature.
Children and Adolescents
As well as episodes of pain and/or burning sensations in the hands and feet, children and young people with Fabry disease often develop the characteristic spotted, dark red skin rash (angiokeratomas) seen most densely between the belly button and the knees. Changes in the appearance of the cornea may also develop and are identified by an opthalmologist or optometrist during a routine eye examination when using a special piece of equipment. Parents and teachers should consider the effects of physical exertion, exercise, and extremes of temperature on children with Fabry disease. Children with Fabry disease may also experience social issues related to school or employment. Patients and families may find consultation with support specialists to be particularly helpful.
Additional information on Fabry disease in adolescents can be found in the Adolescents fact sheet.
Adults
Fabry disease progresses slowly and symptoms resulting from damage to the kidneys, heart and central nervous system usually appear between the ages of 30 to 45. In some individuals, a diagnosis of Fabry disease is made coincidentally when testing to determine the cause of heart or kidney problems identifies the accumulation of Gb3 in those tissues. Symptom management can help reduce the effect of symptoms, and lifestyle considerations such as type of employment, choice of leisure activities and diet can all play a role.
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