A rare and relatively unknown disease. We explain what it consists of.
There are a series of diseases in the world whose percentage of affected is very small. They are the so-called rare diseases. One of these rare pathologies is Creutzfeldt-Jakob disease (CJD), which will be discussed throughout this article.
In Creutzfeldt-Jakob disease (CJD) an abnormality in a protein causes progressive brain damage that leads to an accelerated decrease in mental function and movement; reaching the person a coma and death.
What is Creutzfeld-Jakob disease?
Creutzfeldt-Jakob disease (CJD) is established as a rare brain disorder that is also degenerative and invariably fatal. It is considered a very rare disease, since it affects approximately one in a million people.
CJD usually appears in advanced stages of life and is characterized by evolving very quickly. Its first symptoms usually appear at 60 years of age and 90% percent of patients die within a year of being diagnosed.
These first symptoms are:
As the disease progresses, the mental deterioration becomes very significant, and can cause blindness, involuntary movements, weakness in the limbs and coma.
Creutzfeldt-Jakob disease (CJD) belongs to a family of diseases called transmissible spongiform encephalopathies (TSE). In these diseases, the infected brains present orifices or holes only perceptible under the microscope ; making its appearance similar to that of sponges.
The main scientific theories maintain that this disease is not caused by some virus or bacteria, but by a type of protein called a prion.
This protein can present both in a normal and innocuous way as well as in an infectious way, which causes the disease and causes the rest of common proteins to fold in an abnormal way, affecting their ability to function.
When these abnormal proteins appear and coalesce, they form fibers called plaques, which can begin to accumulate several years before the first symptoms of the disease begin to appear.
Types of Creutzfeldt-Jakob disease
There are three categories of Creutzfeldt-Jakob disease (CJD):
1. sporadic CJD
It is the most common type and appears when the person does not yet have known risk factors for the disease. It manifests itself in 85% of cases.
It occurs between 5 to 10 percent of cases. They are people with a family history of the disease or with positive tests for a genetic mutation associated with it.
There is no evidence that CJD is contagious through casual contact with a patient, but there is evidence that it is transmitted by exposure to brain tissue or nervous system. It occurs in less than 1% of cases.
Symptoms and development of this disease
Initially, Creutzfeldt-Jakob disease (CJD) manifests itself in the form of dementia, with changes in personality, impaired memory, thinking and judgment ; and in the form of muscle coordination problems.
As the disease progresses, mental deterioration worsens. The patient begins to suffer involuntary muscle contractions or myoclonus, loses bladder control and may even go blind.
Eventually the person loses the ability to move and speak; until the coma finally occurs. In this last stage other infections arise that can lead the patient to death.
Although the symptoms of CJD may appear similar to those of other neurodegenerative disorders such as Alzheimer’s or Huntington’s disease, CJD causes a much faster decline in a person’s abilities and has unique changes in brain tissue that they can be seen after autopsy.
For now, there is no conclusive diagnostic test for Creutzfeldt-Jakob disease, so its detection is really difficult.
The first step in making an effective diagnosis is to rule out any other treatable form of dementia, which requires a complete neurological examination. Other tests used to diagnose CJD are spinal extraction and electroencephalogram (EEG).
Also, a computed tomography (CT) scan or magnetic resonance imaging (MRI) of the brain can be helpful in ruling out that symptoms are due to other problems such as brain tumors, and in identifying common patterns in CJD brain degeneration.
Unfortunately, the only way to confirm a CJD is by a brain biopsy or autopsy. Due to its dangerousness, this first procedure is not performed unless it is necessary to rule out any other treatable pathology. Additionally, the risk of infection from these procedures makes them even more complicated to perform.
Treatment and prognosis
Just as there is no diagnostic test for this disease, there is also no treatment that can cure or control it.
Currently, patients with CJD receive palliative treatments with the main objective of alleviating their symptoms and making the patient enjoy the highest possible quality of life. For these cases, the use of opioid drugs, clonazepam and sodium valproate can help reduce pain and palliate myoclonus. In terms of prognosis, the outlook for a person with CJD is quite bleak. After six months or less, after the onset of symptoms, patients are unable to care for themselves.
Generally, the disorder becomes fatal within a short period of time, approximately eight months ; although a small proportion of people survive for up to one or two years.
The most common cause of death in CJD is infection, and heart or respiratory failure.
How it is transmitted and ways to avoid it
The risk of transmission of CJD is extremely low; being the doctors who operate with brain or nervous tissue those who are most exposed to it.
This disease cannot be transmitted through the air, nor through any contact with a person who has it. However, direct or indirect contact with brain tissue and spinal cord fluid does pose a risk.
To avoid the already low risk of infection, people who have a suspected or already diagnosed CJD should not donate blood, tissues or organs.
As for the people who are responsible for caring for these patients, health professionals and even funeral professionals must adopt a series of precautions when carrying out their work. Some of these are:
- Wash hands and exposed skin
- Cover cuts or abrasions with waterproof bandages
- Wear surgical gloves when handling patient tissues and fluids
- Wear face protection and bedding or other disposable clothing
- Thoroughly clean the instruments used in any intervention or that have been in contact with the patient