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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
No, Wilson's syndrome, also referred to as Wilson's temperature syndrome, isn't an accepted diagnosis: Rather, Wilson's syndrome is a label applied to a collection of nonspecific symptoms in people whose thyroid hormone levels are normal. Proponents of Wilson's syndrome believe it to be a mild form of thyroid hormone deficiency (hypothyroidism) that responds to treatment with a preparation of a thyroid hormone called triiodothyronine (T-3). However, the American Thyroid Association has found no scientific evidence supporting the existence of Wilson's syndrome. In a public health statement, the American Thyroid Association concluded: The diagnostic criteria for Wilson's syndrome — low body temperature and nonspecific signs and symptoms, such as fatigue, irritability, hair loss, insomnia, headaches and weight gain — are imprecise. , There's no scientific evidence that T-3 performs better than placebo in people with nonspecific symptoms, such as those described in Wilson's syndrome. . Hypothyroidism can be diagnosed by blood tests that detect insufficient levels of thyroid hormone. Wilson's syndrome shouldn't be confused with Wilson's disease — a rare, inherited disorder that causes too much copper to accumulate in certain organs. Although it's frustrating to have persistent symptoms your doctor can't readily explain, it could be worse to accept an unrecognized diagnosis from an unqualified practitioner. Unproven therapies for so-called Wilson's syndrome may leave you feeling sicker, while a treatable condition — such as fibromyalgia or depression — goes undiagnosed. ...Read more
Genetic causes- splenomegaly, fatty liver, seizures, fatigue, psychosis and ataxia?
Neg. For np a/b/c, lupus, wilson's and ashkenazi diseases
This is a lot: I wish my answer was as good as your question. Some of your symptoms could be part of an immunologically mediated illness. These as you know can have a genetic basis. You have looked in some important areas. Your evaluation may be a variety of laboratory studies genetics studies and tissue biopsies to help clarify. ...Read more
Yes: Parkinson-like symptoms can be an initial manifestation of Wilson's disease. Wilson's disease usually occurs in younger people, however. If there is any confusion in diagnosis, Wilson's disease can usually be diagnosed through a combination of blood tests, urine tests, and/or an eye exam. Hope this helps. ...Read more
Confusion: Clinically and under the microscope, wilson's (rare) can look treacherously like alcoholic liver disease or non-alcoholic steatohepatitis (nash, very common). In fact, even weighing the copper in the liver can be misleading because the biopsy may be regenerative nodules. A urinary copper check is part of my preferred workup, and consider a genetic check. ...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 moreSee 2 more doctor answers
No: Wilson disease is a genetic disorder.Get a more detailed answer ›
No: Most of it is sporadic. I do not know any variants of lou gehrig's that travel on the x-chromosome. This is in contrast with duchenne's / becker's muscular dystrophy, a weakness syndrome on the x chromosome that might be mistaken for lou gehrig's by a very inept physician. Lou gehrig's is amyotrophic lateral sclerosis. It is also unrelated to sexual activity. ...Read more
Liver ALT ELEVATED -MRCP and Fibroscan nrml.no hep,drugs,alcohol,not fat, wilsons autoimmune etc what could it be? ~2xULN all common things checked.
May represent ....: A statistical anomaly. ~ 1 out of every 20 lab tests may be above/below the famous "Bell Curve" that describes statistical variability. In addition, your ALT represents a very slight elevation of only 1 test. Typically in significant liver issues you will see a pattern of several enzyme tests often elevated 3x (or more) above normal. The ALT is a momentary "snapshot" that could be WNL with recheck ...Read moreSee 3 more doctor answers