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Wilson's disease is a rare genetic disorder characterized by the accumulation of copper in various organs, particularly the liver, brain, and eyes.
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Wilson's disease (WD), also known as hepatolenticular degeneration, is a rare genetic disorder that affects the liver, central nervous system, and especially the eyes, as well as various other organs in the body, due to the buildup of copper in their tissues.
This disorder is caused by mutations in the ATP7B gene, which encodes a hepatic copper-transporting protein that plays a crucial role in copper excretion into bile. It is transmitted through an autosomal-recessive pattern.
If you have Wilson's disease, it means you were born with it, but clinical manifestations can occur at any age, presenting a wide range of signs and symptoms, most of which are non-specific, or the disease can be asymptomatic.
Accurate diagnosis can be challenging and relies on the judicious use of a battery of laboratory and other diagnostic tests. The treatment varies from individual to individual, and in certain situations, in the absence of proper treatment, Wilson's disease can be fatal.
Copper is a trace element essential for the normal functioning of our body. It contributes to the maintenance of pigmentation, the formation of red blood cells, the absorption of iron and the functioning of the immune system.
An excess of copper can be toxic. In the case of Wilson's disease, the accumulation of copper is the result of a mutation in the Wilson protein, also known as the copper-binding protein ATP7B, present on chromosome 13, responsible for the copper loading of ceruloplasmin in the Golgi apparatus, and the excretion of excess copper into the bile.
The genetic inheritance of this disease is autosomal recessive, meaning there must be a mutation in both chromosomes numbered 13 for it to manifest phenotypically. This mode of transmission also means it can skip generations (carriers).
Wilson's disease can manifest at any age with very varied clinical presentations depending on the organ affected and the amount of accumulated copper.
The symptoms of the disease can vary from showing no symptoms to a life-threatening fulminant liver failure
Copper accumulation in liver in people with Wilson's disease develops symptoms of liver cirrhosis and chronic hepatitis. These symptoms include:
Copper accumulation in brain causes symptoms as:
Diagnosing Wilson's disease can be challenging initially due to its nonspecific symptoms, which may resemble those of other liver or neurological conditions.
To confirm the diagnosis, the doctor will rely on a comprehensive approach, including a review of family history, a thorough physical examination, an assessment of symptoms, blood tests, imaging and genetic testing to identify mutations in the ATP7B gene.
A confirmed WD diagnosis requires the presence of two known genetic abnormalities. Negative test results can reduce the likelihood of diagnosis but do not rule it out entirely due to the potential for unidentified genetic variations.
If lab tests don't confirm or exclude diagnosis of Wilson disease doctor may ask for liver biopsy. During biopsy doctor will take small sample of your liver tissue. Then this sample will undergo pathological examination of tissue under microscope and search for features of Wilson disease or other types of liver abnormalities.
There're many imaging modalities but the most important to do in patient that have signs and symptoms of Wilson is magnetic resonance imaging (MRI) and computerized tomography (CT) scans which may help show any brain abnormalities especially if patient has neurological symptoms.
The management of Wilson's disease is primarily palliative, aiming to restore and sustain copper balance. However, it does not address the fundamental defect responsible for the disease.
Therefore, a lifelong commitment to treatment is essential. Restricting dietary copper intake is typically ineffective, making pharmacological intervention necessary.
The treatment for Wilson's disease may include:
In conclusion, Wilson's disease is a rare genetic disorder characterized by the accumulation of copper in various organs, particularly the liver, brain, and eyes. It is caused by mutations in the ATP7B gene, leading to impaired copper transport within the body.
Diagnosing Wilson's disease can be challenging due to nonspecific symptoms. A collaborative effort between healthcare professionals, patients, and their families is essential for successful long-term management of Wilson's disease.
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