If you have Fabry disease, you may need to see a multidisciplinary team of healthcare providers in addition to your primary care physician.
Fabry disease is a rare genetic disorder characterized by the buildup of a fat molecule called globotriaosylceramide (GL-3 or Gb3) in the blood and tissues of the body. This buildup can interfere with the usual function of cells and lead to damage in multiple organs. That’s why you may need to see a variety of specialists to receive the best care possible.
Following is more information about symptoms Fabry patients might experience and some of the specialists needed to treat them.
The buildup of Gb3 can lead to issues with the peripheral and autonomic nervous systems that controls movement and sensation and regulates bodily functions such as digestion, breathing rate, and urination. As the disease progresses, the central nervous system (brain and spinal cord) may become more involved. This could lead to issues such as seizures or mild dementia.
A neurologist can help evaluate nervous system damage and recommend treatments.
The buildup of Gb3 often affects the heart and blood vessels, increasing the risk of heart problems or stroke.
Cardiologists can monitor your heart for problems and recommend treatments, such as medication or pacemakers, for any symptoms that arise.
Damage to the kidneys leading to chronic kidney disease is one of the main causes of death in patients with classical Fabry disease. If your kidney function deteriorates too much, you may have to undergo periodic dialysis to clean toxins from your blood.
A nephrologist or kidney specialist will monitor you periodically to check your kidney function and watch for signs of kidney disease.
Otolaryngologists and audiologists
Patients with Fabry disease have reported loss of hearing in certain frequency ranges, sudden deafness, tinnitus (ringing in the ears), and vertigo.
An otolaryngologist or ear, nose and throat specialist, can help diagnose hearing problems and possibly recommend hearing aids. An audiologist also can help diagnose hearing problems.
The blood vessels of the skin can become damaged and grow abnormally in Fabry disease. This can lead to purplish-red bumps on the skin called angiokeratomas.
A dermatologist may be able to perform treatments to remove any of the bumps that cause pain or are unsightly.
Gb3 accumulation in the cornea (the clear portion at the front of the eye) can lead to brown, grey, or yellowish streaks, impairing vision. Fabry disease also can lead to blood-filled sacs developing at the corners of the eye.
An ophthalmologist can assess any vision problems and prescribe treatments such as eyedrops for pain, dryness, or fatigue.
Fabry disease may lead to symptoms related to breathing. These could include trouble breathing when exercising, a chronic cough, and wheezing due to lung damage.
A pulmonologist can perform tests to measure breathing abilities and recommend treatments or exercises that can help.
Fabry disease may affect the gastrointestinal tract, leading to issues such as diarrhea, pain and bloating after meals, nausea, vomiting, and feeling full early. These issues can lead to trouble with growth and lack of weight gain.
A gastroenterologist can examine the digestive system and prescribe treatments.
Having a chronic, progressive disorder such as Fabry disease can be very stressful. You sometimes may feel overwhelmed or depressed
A psychologist can take care of such issues and teach you strategies to cope with these feelings to improve your mood and quality of life.
It may be helpful to meet with a genetic counselor if you are thinking about having children. He or she can help you understand the risk of having a child with Fabry disease and can inform you of reproductive options that may be available to minimize that risk.
Last updated: Dec. 18, 2020
Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
We are sorry that this post was not useful for you!
Let us improve this post!
Tell us how we can improve this post?