Serious Symptoms Of Fabry's Disease

Fabry's disease is an inherited condition that develops due to a mutation in the GLA gene. For most patients with this disease, the mutation causes the body to produce insufficient amounts of alpha-galactosidase, an enzyme that breaks down a type of fat called globotriaosylceramide (GL-3). As GL-3 accumulates, it can cause mild to severe symptoms that may lead to serious complications, including heart attacks, strokes, and kidney failure. Fabry's disease is diagnosed more often in men than in women. For males, the symptoms often begin in childhood. Women with Fabry's disease typically develop symptoms later in life than men, and their symptoms tend to be less severe. To diagnose Fabry's disease, patients can have a blood test to check the activity of GAL-A, though since this test may not be as accurate in females, it is recommended a chromosome analysis of the GLA gene be completed as well. Sometimes, a kidney biopsy may be needed to confirm this diagnosis. If possible, patients should go to a specialist for a diagnosis, since Fabry's disease is frequently misdiagnosed by primary care doctors and pediatricians.

The symptoms described below are some of the more severe signs seen in patients with Fabry's disease.

Tinnitus

Tinnitus is a persistent ringing in the ears, and it may be accompanied by hearing loss. Patients with Fabry's disease who are experiencing this symptom should see an ear, nose, and throat specialist for an evaluation. They will examine the patient's ears and do a hearing test. CT scans or other imaging studies may be useful in confirming the presence of tinnitus. While there is no cure for tinnitus, specialists can provide masking devices for patients to wear to block out the ringing sound. The specialist may also remove excess wax buildup within the ears to reduce discomfort. Some patients with ringing in the ears may benefit from taking medications also used to treat depression and anxiety, and counseling and support groups can help individuals with tinnitus learn coping strategies to improve the management of this disorder. Patients will have frequent follow-ups with their specialist to evaluate their progress.

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Proteinuria

Proteinuria refers to an excessive amount of protein in the urine, and it is a complication of Fabry's disease that often goes unrecognized. Proteinuria can be detected through a urinalysis test. In severe cases of proteinuria, patients may notice their urine appears foamy, and swelling in their abdomen, face, hands, and feet could occur. To reduce protein levels in the urine, patients may need to use angiotensin-converting enzyme inhibitors or angiotensin receptor blockers. These prescription medicines help lower protein and reduce blood pressure, too. Patients with excessive protein in their urine might be asked to adopt a low-protein diet, and a nutritionist who specializes in kidney issues can assist patients in effective meal planning. Since proteinuria can lead to kidney damage, patients will need to have frequent blood tests to monitor their kidney function. Dialysis or a kidney transplant may be needed if severe kidney problems are present.

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Pain And Burning In Hands

The pain and burning in the hands associated with Fabry's disease typically comes and goes in episodes. Patients may have more pain during or immediately after exercise, and the pain might increase during hot weather. Colds, fevers, other mild illnesses, and general fatigue may also intensify this pain. Some patients might have pain in both their hands and feet. To reduce pain and stinging, home treatments such as ice packs, warm compresses, and topical pain relievers may be beneficial. Over-the-counter pain relievers such as ibuprofen could be effective for some individuals, and doctors may choose to prescribe stronger pain relievers if necessary. Occasionally, patients may benefit from taking prescriptions designed to treat neuropathy, as these medications can reduce burning, tingling, and numb sensations in the extremities.

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Cloudy Vision

In patients with Fabry's disease, cloudy vision generally affects the front part of the eye. This symptom can lead to reduced visual acuity and trouble with everyday tasks like reading and driving. Cloudy vision is usually one of a number of eye symptoms that may occur with this condition. In particular, patients with Fabry's disease often have pale gray, yellow, or brown streaks on the cornea of their eye. These streaks are known as corneal opacities or corneal verticillata. Specialists report more than ninety percent of female patients with Fabry's disease have corneal verticillata. To assess cloudy vision and check for other eye problems associated with this condition, eye specialists will perform a slit lamp examination. This can detect scratches, abnormal patterns, and other findings that could impair a patient's vision. For some patients, cloudy vision may be temporary, and glasses, contacts, or medication may be able to reduce the amount of cloudiness they experience.

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Stomach Pain

Patients with Fabry's disease may have repeated episodes of stomach pain, and these generally occur soon after eating a meal. Along with stomach pain, patients might experience diarrhea, abdominal cramps, and bloating, and they may feel full even after eating very little. Many patients report up to twelve loose stools per day, and these episodes of diarrhea and pain usually alternate with episodes of constipation. Treatment with an enzyme replacement, the usual course of therapy for all patients with this condition, has shown particular promise in reducing the gastrointestinal damage caused by this condition. Enzyme replacement therapy may lead to a reduction in stomach pain and an improvement in the quality of life for individuals with Fabry's disease. A gastroenterologist can help patients with this condition manage their stomach symptoms effectively, and they might prescribe pain relievers and medications that ease diarrhea and cramping. A nutritionist can help patients plan meals that may cause less pain after eating. Fabry's disease patients should always let their healthcare provider know if they are experiencing any new gastrointestinal symptoms or changes in the intensity or location of their pain.