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.
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).