Many of you know when a disorder or an illness occurs because you can feel its symptoms. But what if you’re getting ill of an illness that is silent (asymptomatic) for a very long period of time? These are called invisible illnesses only because their not making their presence felt, therefore it is hard to figure out if you’re sick or not. 2 invisible illnesses explained in this article will probably change the way your now treating the regular visits to the doctor.
- Wilson’s Disease
There are situations where certain elements introduced into the body through food can not be metabolized and eliminated. An example is the Wilson’s Disease, which bears the name of the English neurologist Samuel Wilson who first described the affection in 1912. It is a genetic abnormality of copper metabolism.
Why does Wilson Disease appear?
Wilson’s disease is a genetic disease and occurs as a result of a gene mutation encoding a molecule that helps to transport copper. Copper is deposited in various organs, with higher affinity for liver and brain, especially in the Babylonian ganglia.
Wilson’s disease can have two early-onset forms, between 5 and 20 years of age, with predominantly hepatic manifestations, and another between 21 and 40 years of age, with predominant neurological and psychiatric symptoms. Generally, the onset is young.
How does Wilson’s disease manifest?
Depending on the severity of the mutation, patients may be affected:
- On the hepatic level – fatigue, jaundice, increased liver, and spleen volume, culminating in liver cirrhosis. Most forms are without any previous symptoms that start directly with acute liver failure that can lead to death!
- On the neurological level – limb tremors, muscle tone increase (muscles become stiff and motion is performed in stages, as in Parkinson’s disease), speech disorder, swallowing disorders (dysphagia). A characteristic sign is the trembling in the beating of the wing revealed when the patient is with his arms raised horizontally at the chest and the fingers in opposition.
- On the ocular level – copper deposits at the cornea level revealed with the naked eye or with the slit lamp by ophthalmologist. It is know as the Kayser-Fleischer ring, being characterized as yellowish ring that surrounds the iris. Cataract can also occur, but is not seen in all patients.
- Psychiatric disorders – behavioral disorders, anxiety, memory disorders, psychosis
- On the renal level
- On the cardiovascular level – cardiomyopathy with arrhythmias and heart failure
What are the investigations recommended for detecting Wilson’s Disease?
Initially, a set of analyzes is indicated to determine hepatic function, ceruloplasmin, and copper levels in the blood. Useful is the determination of copper in the urine for 24 hours.
Also, an eyes consultation is recommended for Kayser-Fleischer ring detection.
The neurologist may indicate brain imaging investigations.
Hepatic biopsy confirms copper deposition in the liver, and genetic testing are also needed to prove the presence of the ATP7B gene mutation.
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