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If we just found out that my17 yo daughter has an enlarged heart, what signs/symptoms should we be concerned about? Has been to baptist hospital in winston-salem, nc. She is experiencing, cp, sob, extreme fatigue w/o exhertion, squeezing and tightness in
Did she have an echocardiogram (ultrasound) of her heart? Have they done holter monitoring on her (a device that records any abnormal cardiac events in 24 hours).
You should have her evaluated at the nearest teaching hospital. They typically have the best specialist. As far as pe is concerned, her doctors need to give her a note to sit out until a diagnosis is made and treatment is started.
Best of luck. ...Read more
Copper accumulation: Wilson's disease is a disorder in which copper accumulates in the body cells. This causes liver disease, psychological changes, and movement disorders similar to parkinsons disease. It can usually be diagnosed by blood and urine tests, but sometimes requires a liver biopsy. It is treated by a low copper diet and medication that reduces copper levels. ...Read more
Genes: Wilson's disease is due to mutations in the wilson disease protein (atp7b) gene. Wilson's - konovalov's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues like the liver and cornea; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication and sometimes liver transplant. ...Read more
Treatable killer: This may be the most treacherous of all diagnoses. 1 in ~60000 people have this defect in copper metabolism that may have no symptoms or look like something else until it ruins the liver and brain. It's picked up on lab testing and even these are fraught with pitfalls. Diagnosed, it's very easy to treat. I wish you luck and hope your workup is done well. ...Read more
Wilson's disease: The diagnosis of wilson's disease is based upon the clinical setting combined with compatible biochemical (serum ceruloplasmin concentration), histologic (evidence from liver tissue biopsy) and physical findings (such as deposits of copper in a certain part of the cornea). ...Read more
Copper overload: Each parent is a carrier and the patient has two defective copies of the atp7b gene, making it impossible to pump copper out of certain cells. Damage to the brain and liver is the most severe, but there is also hemolysis and dysfunction of the proximal kidney tubule. It's missed from time to time with disastrous results; screening labs are famously unreliable. ...Read more
Depends on organ:
Affected. Signs and symptoms of wilson's disease include:
clumsiness, depression, difficulty speaking, difficulty swallowing, difficulty walking, drooling, easy bruising, fatigue, involuntary shaking, joint pain, loss of appetite, nausea, skin rash, swelling of arms and legs, yellowing of the skin and eyes.
Check this site:
http://www. Mayoclinic. Com/health/wilsons-dis. ...Read more
No enough info: If you have a sibling who has been diagnosed with this condition, you need an evaluation by a physician knowledgeable in this rare autosomal recessive disorder, like a metabolic or biochemical geneticist. ...Read more
Same as in male: Miss it, and the person becomes unable to move normally, then paralyzed. The liver develops cirrhosis and ultimately fails. There's moderate hemolysis and often a Fanconi syndrome of the proximal tubule. ...Read more
Phony vs deadly: "Wilson's syndrome" is the invention of an independent medical thinker with no publication on the subject. People are asked to self-diagnosed based on a single low-normal body temperature reading and a huge list of symptoms. Wilson's disease is among the most treacherous illnesses to diagnosed, and if missed, produces a gruesome death. They're very different. ...Read more
Maybe: More likely, you're looking too closely at your eyes and at internet pictures. By the time the KF ring appears in the eye, the person with Wilson's is obviously sick -- at least with elevated liver enzymes and probably glucose in the urine. A competent physician will have picked it up. Glad you're health conscious. Best wishes. ...Read more
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That said, "too much of a good thing is no good for you! "
You must be aware that many professional athletes take a lot pills of this nature and go on to pay a price.
Do you really need this. Read this article and others on the sam etopic before you make up your mind. ...Read more
I doubt it: Wilson's is rare and when two youngsters with it came down with leukemia, there was talk about either the copper overload or the Penicillamine rx possibly being a cause. Wilson's is very serious and I wouldn't worry about an old claim of a link that was first made in 1982 without any real further validation. ...Read more
Wilson's Disease: Wilson's disease is a hereditary disorder that affects your ability to regulate copper absorption & storage. Instead of being excreted into your intestines and out of your body, copper gets stored in your eyes, liver, kidneys, and brain. You need to avoid eating too much copper in your diet -- including in multivitamins. Great site with dietary suggestions: http://tinyurl. Com/mrsxk6y. ...Read more
Symptoms, correct?: It is very easy to overlook the subtle mental and movement changes that warn of Wilson's. The elevated liver enzymes, possible Fanconi syndrome revealed on urinalysis, and/or the low-grade hemolysis cause no symptoms. By the time the KF rings are visible in the eye, the disease is advanced. Have a high index of suspicion. ...Read more
Uncertain: I disagree with some aspects of recommended treatments such as coffee enemas for detoxification purposes. I find no convincing studies proving benefit. In general, a working liver and healthy kidneys take care of detoxification quite admirably. Talking with people who have undergone treatment and discussing with various physicians and perhaps getting a second opinion would be worthwhile. ...Read more
It doesn't: Who told you that?Get a more detailed answer ›