Describe Wilson’s Disease, please?
lady_ellie
Something came up and I heard that Wilson’s disease is something with the brain and in rare cases, it can be diguised at a liver disease? Is this true or false? If it is false, can you please give some details and explanation? Thank you.
This isn’t homework…my relative is in the hospital and they think it is Wilson’s…
Conversely, Ellie, WD shows most often in liver (it starts from it), but every patient is different and there aren’t specific tests.
In adults comes out most often with neurological symptoms, often disguised as Parkinsonism or other degenerative diseases.
In liver, it may be disguised with hepatitis, cirrhosis, etc.
My daughter -28- started with tics, little repeated motions, and difficulties in complex movements as stir and eating soups with a spoon, smoking, washing hairs. Luckily, it was diagnosed in two months by the first very old and expert neurologist she’ve seen, so we was able to save her. Now, after 4 months of terapy, she’s recovering quite well and we hope that she will be fine to regain her normal life in few months more.
You may find in Wikipedia a quite good article, but I’m glad to give you some quick guidelines. The fastest thing is go to an oculist. They can see very well with the slit lamp if you have Kayser-Fleischer rings in the eyes or not (copper deposits in the cornea). Usually you can’t see them a naked eye, as it’s quite easy to mistake between iris color and KF rings. Also, only 2/3 of WD patients have KF rings, and it’s not an exclusive symptom of WD. Slit lamp is the faster (a couple of minutes) and less invasive test.
Then make deep analysis of liver functions (always the first organ involved), as it deteriorates well before any symptom may be visible. Those may be (but not limited to): a raised aspartate transaminase, alanine transaminase and bilirubin level. I also suggest to include albumin (may be decreased), prothrombin time with INR (a test of coagulation, that may be prolonged), alkaline phosphatase and cholinesterase.
Jointly you need to test serum ceruloplasmin (the protein that veicolate copper in blood), serum copper, and copper in 24 hours urines. Choose a major laboratory, as the latter can’t be performed by little ones.
If there are neurological symtomps, do immediately a brain MRI scan.
Then pack all those results and show them to an expert hepatologist then an expert neurologist (if there are neuro symptoms). All physicians have studied about WD, but quite few have had WD patients.
Later, you may do genetic tests, this may help discovering WD in siblings (25% of chances) and cousins (1 chance on 800). Genetic tests are expensive, some 2500-3000 US$, and quite difficult to have them refunded by insurances (if you are in US). We are in Italy and all expenses for rare diseases are fully paid by the State.
Said so, all medicines are quite cheap.
Best wishes!
no i am not doing your hw
Wilson’s disease causes the body to retain copper. The liver of a person who has Wilson’s disease does not release copper into bile as it should. Bile is a liquid produced by the liver that helps with digestion. As the intestines absorb copper from food, the copper builds up in the liver and injures liver tissue. Eventually, the damage causes the liver to release the copper directly into the bloodstream, which carries the copper throughout the body. The copper buildup leads to damage in the kidneys, brain, and eyes. If not treated, Wilson’s disease can cause severe brain damage, liver failure, and death.
Wilson’s disease is hereditary. Symptoms usually appear between the ages of 6 and 20 years, but can begin as late as age 40. The most characteristic sign is the Kayser-Fleischer ring—a rusty brown ring around the cornea of the eye that can be seen only through an eye exam. Other signs depend on whether the damage occurs in the liver, blood, central nervous system, urinary system, or musculoskeletal system. Many signs can be detected only by a doctor, like swelling of the liver and spleen; fluid buildup in the lining of the abdomen; anemia; low platelet and white blood cell count in the blood; high levels of amino acids, protein, uric acid, and carbohydrates in urine; and softening of the bones. Some symptoms are more obvious, like jaundice, which appears as yellowing of the eyes and skin; vomiting blood; speech and language problems; tremors in the arms and hands; and rigid muscles.
It is very rare and it is genetic- inherited from parents. it is treatable and sufferers can lead a normal life with diet restrictions and medication.
Hey, you rhymed!
Wilson’s disease also known as hepatolenticular degeneration is mostly predominant in males. The symptoms usually appear between the ages 18-21 but very rarely before 5 yrs. The symptoms both effects the liver and brain. Symptoms that effect the liver and hepatic systems are Chronic active hepatitis and fulminant fulminant liver failure. Neurotic symptoms includes mood disorders, dimentia, and parkinsonism. This disease can also effect your dermal, cardiac, renal and opthalmic systems.