Fabry Disease

Almost at the end of my first week of my clinical rotation down in Charleston, WV.  It’s technically my 3rd week of a clinical nutrition rotation since I had 2 weeks at Mon General Hospital, but that was about 2 months ago so it feels a bit like I’m being re-oriented. No worries though, I feel like I’ve caught on pretty quickly to the computer program, nutrition care process, and the layout of the hospital (I’ve found if I wander around long enough, I’ll find my way back to the dietitians’ office…haha).

I’ve seen quite a few patients so far, and most have fairly common medical conditions that you’d see in any hospital – Type 2 diabetes mellitus, coronary artery disease, gastroesophageal reflux disease, asthma, anxiety, depression, myocardial infarction, stroke, HIV, cancer, chronic kidney disease, hypertension, hyperlipidemia, nausea/vomiting, …. the list could go on, but that’s what I remember off the top of my head.

I also came across a patient this week who had been diagnosed with Fabry Disease, and I had to look it up because I couldn’t remember what it was. So I thought I’d share what I found through a bit of internet research:

Fabry disease is a lipid storage disorder that is caused when there is an alteration in the structure or function of an enzyme (alpha-galactosidase-A) that metabolizes lipids in the body.  Fabry Disease may be better known as alpha-galactosidase-A deficiency.  When this lipid metabolism process is unable to function properly, it causes a dangerous and unwanted build-up of a particular type of lipid in the body (globotriaosylceramide) that can damage the eyes, kidneys, nervous system, and cardiovascular system. It’s also X-linked, which means it shows up in males, and females with the gene will be carriers or have a milder form of the disease.

Symptoms begin in childhood or early adolescence and as stated above, are related to the eyes, kidney, nervous system, and cardiovascular system.  Patients can develop clouding of the cornea, impaired arterial circulation, increased risk of heart attack or stroke, enlargement of the heart, and kidney disease. Symptoms also include hearing loss, ringing of the ears, GI problems, aches and pain, and dark red spots on the skin.

Patients with Fabry disease can undergo enzyme replacement therapy to reduce the lipid storage, and thereby easing the patient’s negative side effects and improving organ function.  Patients may also require a kidney transplant or dialysis, but premature death is common.

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