Fabry Disease Signs & Symptoms
Information on Fabry disease signs and symptoms should not be used as a substitute for medical advice. Readers are warned not to take any action without first seeking medical advice. These pages have been written by Fabry Australia and reviewed by our medical advisors.
Symptoms are typically first experienced in early childhood and can be very difficult to understand; the rarity of Fabry disease to many clinicians sometimes leads to misdiagnoses. Manifestations of the disease usually increase in number and severity as an individual ages. There are a wide variety of signs and symptoms associated with Fabry Disease. A person diagnosed with Fabry disease may experience many symptoms listed here. Some experience few and others all of them. The severity of symptoms does vary from person to person.
Pain is one of the more common symptoms of Fabry disease and is often one of the first symptoms people experience. For many, pain is brought on and worsens with exposure to hot temperatures, changes in weather, stress, fatigue, exercise and illness.
There are two major types of pain associated with Fabry disease:
Ongoing burning, numbness, tingling pain and discomfort. This type of pain is called acroparesthesias and mainly affects the hands and feet.
“Fabry crises” are usually experienced as episodes of intense, excruciating, burning pain, felt initially in the hands and feet and radiating to other parts of the body. These crises can be debilitating and can last from minutes to several days.
These attacks may be accompanied by body aches, fever, and fatigue.
Fevers often resulting in clinic/hospital visits especially in but not limited to childhood
Frequent overall body ache or discomfort
Intolerance to strenuous physical activity
Frequent and/or chronic fatigue
Hot and cold temperature intolerance
Many people with Fabry disease sweat less than people without the disease. They may either perspire very little (hypohidrosis) or not at all (anhidrosis). This can cause overheating, frequent fevers, and sensitivity to weather extremes. Impaired sweating is generally caused by damage to the nerves and sweat glands.
Swelling (edema) in the lower legs, ankles and feet often without clinical symptoms of heart or kidney problems
Some people with Fabry disease are unable to tolerate physical exertion, and may tire or become overheated even after mild activity. Physical exertion may also trigger episodes of pain. For these reasons, people with Fabry disease may need to modify their physical activities and/or avoid certain activities all together.
Early symptoms of Fabry disease can include stomach or intestinal pain and cramps, flatulence, frequent mild to severe diarrhea and/or constipation. Early satiety (feeling full sooner than normal or after eating less than usual), food intolerance, and difficulty gaining weight (primarily males).
Skin – Angiokeratomas
Angiokeratomas are the most visible, recognisable clinical feature of Fabry disease. These dark red or purple skin lesions (ranging in size from pinpoint to several millimetres in diameter) do not blanch with pressure and are usually distributed on the buttocks, groin, umbilicus, and upper thighs (bathing trunk distribution). This rash-like skin condition is not painful. It can also appear on other parts of the body such as the lips, tongue, hands and toes. It can be confined to a small area of the body or may affect a larger area. Lesions generally appear in adolescence or young adulthood. Not all Fabry patients have angiokeratomas.
The surface layer of the eye (cornea) may appear abnormal when examined using special equipment that an optician or an eye specialist (ophthalmologist) may have. This starburst, or whorling appearance, which is called cornea verticillata, does not affect vision but may increase with time. It occurs in approximately three-quarters of patients and can be a reliable indicator of Fabry disease.
Fabry disease can affect hearing and patients can experience a ringing in the ears that is called tinnitus. Most patients will have some degree of hearing loss at some time and this can either progress over time or be quite sudden.
Weakness, lightheadedness, dizziness, vertigo (spinning dizziness) and headaches from neurological damage, and other cerebrovascular disease impacts
The progressive build-up of GL-3 can lead to kidney insufficiency and kidney failure throughout life. This can lead to an abnormal amount of protein in the urine (proteinuria) which causes foamy urine and is often the first sign of kidney involvement. Severe kidney problems can lead to kidney failure requiring dialysis or transplant.
Heart (cardiac) complications occur when glycolipids build up in different heart cells; heart-related effects worsen with age and may lead to increased risk of heart disease High blood pressure and restrictive cardiomyopathy are commonly observed. Other problems include; enlarged heart, malfunctioning heart valves, irregular heartbeat, heart attack and heart failure. Heart complications such as arrhythmias (abnormalities in the heart's rate or rhythm including atrial fibrillation); left ventricular hypertrophy (LVH)/enlarged heart (Hypertrophic Cardiomyopathy), and malfunctioning heart valves
Pulmonary Symptoms that can be seen in Fabry patients include obstructive pulmonary disease ranging from mild to chronic obstructive pulmonary disease. It is often documented as wheezing, dyspnea (difficulty in breathing resulting in shortness of breath), or bronchitis. Chronic cough is a common complaint in men as well as women. While the cough may be worsened by restrictive airway disease or tobacco use, it can occur in individuals without these risk factors. Exercise intolerance in Fabry disease is typically attributed to hypohidrosis, pulmonary disease, or cardiomyopathy
Brain and Nervous System
Excess GL-3 can disrupt normal blood flow in the brain. As a result, people may experience a number of symptoms including: weakness, head pain, numbness, dizziness and stroke. Transient Ischemic Attacks (TIAs), usually referred to as mini-strokes, that are stroke like symptoms that are usually short in duration. Strokes can occur.
Living with difficult physical symptoms is only one of the challenges people with Fabry disease may face. They may experience feelings of fear, depression, isolation or guilt about passing the disease along to family members. It is important to talk with your Doctor and a Fabry specialist for ongoing clinical management. Talking with a Genetic Counsellor may prove helpful when first diagnosed and provide further support with family planning. Fabry Australia can arrange prove helpful organising coffee catch ups and putting members in touch with one another to talk about concerns in face to face local settings.