Wilson's disease is a rare genetic autosomal recessive disorder characterized by copper accumulation in the body, thereby preventing its release. The most affected organs are the liver, brain and corneas of the eyes.
The progression of Wilson's disease can be slowed down by early diagnosis, allowing the individual to live a normal life. However, if there is a delay in the treatment, it may lead to life-threatening conditions, like central nervous system dysfunction or psychotic problems, liver failure and eventually death.
● Absorption of iron
● Production of blood cells
● Keeping the bones healthy
● Maintenance of the immune system, blood vessels and nerves
Although copper plays a key role in various body functions, if it builds up in the body, it leads to copper poisoning and is said to be fatal, as mentioned above in the description.
Typically, copper is taken up from food and the excess is released in bile and eliminated from the body. But in an individual with the atp7b gene mutation, the extra copper remains in the body and very little is excreted in the bile.
These mutations are autosomal recessive, i.e. the person inherits two copies of an abnormal gene from each parent.
If an individual receives one normal gene and one mutant gene, he/she is a carrier. Although no symptoms appear in carriers, there is a risk of passing the mutant gene to their children.
There is a 25% chance for a child to inherit normal genes from both parents. Males and females are at the same level of developing this disease. Researchers have identified more than 300 different mutations of the ATP7B gene.
The symptoms are mostly specific to the organ being affected by Wilson's disease.
These symptoms are more common in adults than in children and may vary from patient to patient.
● Anxiety
● Depression
● Dementia
● Irregular walk
● Schizophrenia
● Difficulty in speech
● Difficulty in writing
● Problems with swallowing (dysphagia)
● Stiffness of muscles
● Changes in behavior
● Inability to concentrate
● Uncontrolled movements and muscle weakness
Inflammation of the liver or hepatitis is the most common symptom in patients with acute liver failure. Other symptoms include:
● Rapid weight loss
● Dark urine
● Itchy skin
● Edema (legs and abdomen)
● Weakness
● Tiredness
● Nausea, vomiting
● Pain in the upper abdomen
● Pale colored stool
● Yellow discoloration (jaundice)
● High bruising tendency
● Cramps in muscles
Studies have found that 9 out of 10 individuals suffering from Wilson's disease develop kayser-Fleischer rings. It is characterized by the development of brownish pigment around the cornea due to the copper buildup.
It is another ocular manifestation of Wilson's disease. In this disease, the eye consists of a greenish central disc with spokes that radiate outwards.
Eye involvement in Wilson’s disease usually does not lead to significant impairment of vision.
Other symptoms include:
● Hemolytic anemia
● Heart attack
● cardiomyopathy
● Kidney dysfunction
● Disturbance in menstruation cycle
● Miscarriage
● Infertility
● Arthritis
● Osteoporosis ( thinning of bones)
● Osteophytes (bony outgrowths)
Different types of physical tests and lab tests are used to diagnose Wilson's disease, as it is difficult to differentiate it from other diseases having similar symptoms. These tests include:
● Blood test
● Urine test
● Liver biopsy
● Listening to abdomen sounds
● Checking eyes under bright light
The treatment options for Wilson’s disease are:
● Copper chelating therapy (removal of excess copper)
● Trientine and zinc for 4-6 months for liver failure
● Penicillamine and zinc
● Modifications in diet (avoiding high copper intake)
Book your online appointment with Shifa4U to acquire the medications you need.
Dr Rizwan Uppal, the founder of IDC, believed that proper and timely diagnosis is the key to successful treatment. An all under one roof diagnostic service with the name of Islamabad Diagnostic Center (IDC) Pvt. Ltd was established in the beautiful City of Islamabad more than a decade ago.
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