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Is there Wilson's disease or not and what is the percentage…

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Is there Wilson's disease or...
Is there Wilson's disease or not and what is the percentage in siroloblazmin of the presence of the disease
Submitted: 4 months ago.Category: Medical
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Answered in 6 hours by:
12/31/2017
Doctor: patrickjmullis,
 replied 4 months ago
patrickjmullis
Category: Medical
Satisfied Customers: 21
Verified

There is a Wilson's disease (see below), percentage in siroloblazmin data is not available. Hope this helps, if so please rate me 5 stars. Thanks and good luck.

General Discussion

Wilson disease is a rare genetic disorder characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. The disease is progressive and, if left untreated, it may cause liver (hepatic) disease, central nervous system dysfunction, and death. Early diagnosis and treatment may prevent serious long-term disability and life threatening complications. Treatment is aimed at reducing the amount of copper that has accumulated in the body and maintaining normal copper levels thereafter.

Signs & Symptoms

Wilson disease is a rare genetic disorder beginning with liver dysfunction where damage begins by six years of age, but usually presents clinically in teenage years or early twenties. Common signs of associated liver disease include a yellow discoloration (jaundice) of the skin, mucous membranes and the membranes (sclera) that line the eye, swelling (edema) of the legs and abdomen (ascites) due to abnormal retention of fluid, presence of abnormal blood vessels in the esophagus that may bleed (esophageal varices), a tendency for bruising and prolonged bleeding, and excessive tiredness (fatigue). Some individuals with Wilson disease may have only abnormalities of liver function test and may show no other symptoms until many years later.

A minority of affected individuals may experience severe liver failure. This happens most frequently in people with Wilson’s disease during adolescence and more commonly in women. These individuals may rapidly develop signs and symptoms of liver disease, often associated with anemia due to breakdown of red blood cells (hemolysis) and mental confusion. In these young patients, the characteristic rusty-brown deposits in the corneas of the eyes (Kayser-Fleischer rings) may not yet be present.

In some patients, liver disease does not reveal itself, and the patient develops neurologic (brain-related) symptoms. Common neurological symptoms of Wilson disease that may appear and progress with time include tremor, involuntary movements, difficulty swallowing (dysphagia), difficulty speaking and poor articulation (dysarthria), lack of coordination, spasticity, dystonic postures, and muscle rigidity. Almost all affected individuals with the neurological symptoms of Wilson’s disease have Kayser-Fleischer rings in their eyes that can be identified by an ophthalmologist.

The psychiatric manifestations of Wilson disease may vary widely from patient to patient. These symptoms may be confused with other disorders ranging from depression to schizophrenia, and are often misdiagnosed as substance abuse. Changes in personality or behavior may occur. Most affected individuals with psychiatric symptoms also have neurologic symptoms concurrently or will develop them within about three years and Kayser-Fleischer rings in the corneas of their eyes.

In young females, menstruation may not begin or ceases, until disease is treated. This is due to general disturbances in hormone metabolism due to the liver disease caused by Wilson’s disease. Menstrual irregularity, loss of menstruation (ammenorrhea), miscarriages and infertility are also common.

Other signs and symptoms of Wilson disease may include kidney stones and renal tubular damage, premature arthritis, and other joint and bone involvement including thinning of the bones (osteoporosis) and the appearance of bony outgrowths (osteophytes) at large joints. There may also be reduced spinal and extremity joint spaces.

Causes

Wilson disease is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.

In recessive disorders, the condition does not appear unless a person inherits two defective genes for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms or require treatment. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but will not show symptoms of the disorder or require treatment. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

Researchers have determined that Wilson disease is caused by disruption or changes (mutations) of the ATP7B gene, which plays an important role in the movement of excess copper from the liver to the bile to eventually be excreted from the body through the intestines. More than 300 different mutations of the ATP7B gene have been identified.

Affected Populations

Wilson disease is a rare disorder that affects males and females in equal numbers. The disease is found in all races and ethnic groups. Although estimates vary, it is believed that Wilson’s disease occurs in approximately one in 30,000 to 40,000 people worldwide. Approximately one in 90 people may be carriers of the disease gene. Although only about 2,000-3,000 cases have been diagnosed in the United States, other affected individuals may be misdiagnosed with other neurological, liver or psychiatric disorders. According to one estimate, there may actually be 6,000 people affected by Wilson’s disease in the United States.

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Customer reply replied 4 months ago
I did not want to explain Weslon disease only because of the news there is a disease or not
Customer reply replied 4 months ago
This
Customer reply replied 4 months ago
Copper mine 74 this normal 70-140
Customer reply replied 4 months ago
I want Ceruloplasmin what
Doctor: patrickjmullis,
 replied 4 months ago

Ceruloplasmin serum is medicine that mimics the major copper-carrying protein in the blood, and in addition plays a role in iron metabolism.

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Customer reply replied 4 months ago
What answered my question What is the result of my test?
Customer reply replied 4 months ago
What the my test ��
Customer reply replied 4 months ago
Normal or no
Doctor: patrickjmullis,
 replied 4 months ago

I think your level is slightly low. .18 is slightly below the range shown next to that result on the document attached. Typically the normal range for a ceruloplasmin serum test is 20 to 35 milligrams per deciliter (mg/dL).

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Customer reply replied 4 months ago
There is injury or not
Doctor: patrickjmullis,
 replied 4 months ago

Only your physician will be able to determine / diagnose if an injury has occurred from low Ceruloplasmin.

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Customer reply replied 4 months ago
I want another doctor and thank you
Doctor: DR.EHTISHAM, Doctor replied 4 months ago
DR.EHTISHAM
DR.EHTISHAM, Doctor
Category: Medical
Satisfied Customers: 2,968
Experience: MBBS, FCPS
Verified

Hi Shaheen

This is a new expert

In the report you attached the ceruloplasmin levels are slightly below the normal range

To establish a diagnosis of Wilson disease the clinical features needs to be considered along with other tests like urinary copper excretion and copper content or concentration in liver biopsy

Low ceruloplasmin can be seen in malabsorption syndromes,malnutrition,nephrotic syndrome etc so just a low ceruloplasmin doesn't establish a diagnosis of Wilson disease

I am available to assist you any further till you are satisfied that you have received an excellent response

If satisfied please take a while to rate my service

Regards

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Customer reply replied 4 months ago
See I dont know I am wory
Customer reply replied 4 months ago
Another
Doctor: DR.EHTISHAM, Doctor replied 4 months ago

What are your symptoms?

Your ceruloplasmin is slightly low and normal copper so if the suspected diagnosis is Wilson disease in your case then you will need a confirmation of he diagnosis with a liver biopsy

As i mentioned above low ceruloplasmin can have various causes and just having a low ceruloplasmin doesn't mean Wilson disease

I am available to assist you any further till you are satisfied that you have received an excellent response

If satisfied please take a while to rate my service

Regards

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Customer reply replied 4 months ago
There are no natural examination symptoms the first time I do, I am married I have 3 children and 39 years old me
Doctor: DR.EHTISHAM, Doctor replied 4 months ago

Anyone in family suffering from Wilson disease?

Regards

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Customer reply replied 4 months ago
There is no one suffering from
Doctor: DR.EHTISHAM, Doctor replied 4 months ago

Why the test was ordered ?

Any abnormality in liver function test or liver ultrasound?

Regards

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Customer reply replied 4 months ago
Just I worked the test I have no liver symptoms
Doctor: DR.EHTISHAM, Doctor replied 4 months ago

In that case you need not to worry as chances are low to have a Wilson disease

I am available to assist you any further till you are satisfied that you have received an excellent response

If satisfied please take a while to rate my service

Regards

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Customer reply replied 4 months ago
A friend of the period I was informed of Wilson's disease was less than 0.05 and did the test
Customer reply replied 4 months ago
Tru or not I don’t know Ceruloplasmin only Wilson 0.05 low
Customer reply replied 4 months ago
I am 0.18
Customer reply replied 4 months ago
I didn’t know
Doctor: DR.EHTISHAM, Doctor replied 4 months ago

Yes as i said your number are just borderline and as you don,t have any other problem you need not to worry

I am available to assist you any further till you are satisfied that you have received an excellent response

If satisfied please take a while to rate my service

Regards

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Doctor: DR.EHTISHAM, Doctor replied 4 months ago

Please do feel free to ask if you have any more question

If done please take a while to leave a POSITIVE FEEDBACK RATING

Regards

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Doctor: DR.EHTISHAM, Doctor replied 4 months ago

Hello

Do you have any more question ?

If done please take a while to leave a POSITIVE FEEDBACK RATING

Regards

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