Symptoms of Fabry Disease
Rare disease
Fabry disease is a rare disease; therefore, it is not always well recognized. Most symptoms are not specific to Fabry disease and are sometimes overlooked. Therefore, it can take a long time before Fabry disease is diagnosed accurately. There are, however, a number of signs and symptoms that people (children and adults) with Fabry disease may typically experience:
- Burning, tingling pain in the hands and feet
- Pain radiating throughout the body
- Impaired sweating
- Heat/cold intolerance
- Skin rashes (angiokeratomas) (see figure below)
- Corneal whorling (pattern on the cornea of the eye – generally does not affect vision and can only be seen using special eye exam equipment called a slit lamp)
- Hearing problems
- Gastrointestinal problems, such as diarrhea or vomiting
- Cardiac problems (including enlarged heart and heart valve problems)
- Renal problems
- Nervous system problems, such as stroke
- Psychological issues, such as depression
Fabry disease (or Anderson-Fabry disease) can affect people differently
Doctors may miss the diagnosis because many of the symptoms are similar to those of other diseases. In addition, there may not be any other family members who received the diagnosis of Fabry disease to prompt the doctor to carry out the relevant tests.
Early signs and symptoms can be found in the hands and feet, eyes, ears, heart, abdomen, and on the skin. These first symptoms may appear in childhood and adolescence. As this disease is progressive (meaning it may worsen over time), serious complications can develop, typically during adulthood. These may include heart disease, stroke and kidney disease/kidney failure.
One of the early symptoms of the disease is a burning pain in the hands and feet. Young people or adults with Fabry disease may describe it as “pins and needles” or tingling, or they may feel a sensation in their hands and feet that feels warm, red hot, or even burning and painful.
This can happen when the person experiences a sudden change in temperature or humidity (such as being outside in cold weather and coming indoors, or during/after exercise) or during bouts of fever, illness, stress, or fatigue.
Common symptoms
Other common symptoms are abdominal pain and bloating, nausea, vomiting, and diarrhea with or without constipation. Sweating very little or being unable to sweat, and avoiding hot places, are also very common in the early stage of the disease. Hearing issues have also often been reported in children with Fabry disease. A typical rash of small, raised dark-red spots can also appear, most often in the lower trunk, genital region, on the palms of the hands, around the mouth, lips, and belly button.
Many patients will have a swirling pattern that appears on the surface of their eyes, which can only be observed by an optician or eye doctor with a special tool.
Other signs of Fabry disease include heart abnormalities (enlarged heart, heart valve problems), hypertension (high blood pressure), and kidney problems (renal insufficiency).
