Creutzfeldt-Jakob disease (CJD): causes, symptoms, diagnosis and treatment
There are a number of diseases in the world whose percentage of affected people is very small. These are the so-called rare diseases. One of these rare pathologies is the 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 results in 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% of patients die a year after being diagnosed.
These first symptoms are:
- Memory failures
- Behavior changes
- Lack of coordination
- Visual disturbances
As the disease progresses, mental deterioration becomes very significant, and can cause blindness, involuntary movements, weakness in the extremities and coma.
Creutzfeldt-Jakob disease (CJD) corresponds to a family of diseases called transmissible spongiform encephalopathies (TSE). In these diseases infected brains have holes or holes only perceptible to the microscope ; making its appearance similar to that of sponges.
The main scientific theories maintain that this disease is not caused by any virus or bacteria, but by a type of protein called prion.
This protein can present both normally and innocuously as well as infectiously, which causes the disease and causes the rest of common proteins to fold in an abnormal way, affecting the ability of these to function.
When these abnormal proteins appear and come together 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 in 85% of cases.
It occurs between 5 to 10 percent of cases. They are people with a family history of disease or positive genetic mutation tests associated with it.
There is no evidence that CJD is contagious through casual contact with a patient, but that it is transmitted by exposure to brain tissue or the nervous system. It occurs in less than 1% of cases.
Symptoms and development of this disease
Initially Creutzfeldt-Jakob disease (CJD) manifests in the form of dementia, with changes in personality, memory impairment, thinking and prosecution ; and in the form of muscular coordination problems.
As the disease progresses, mental deterioration becomes more acute. The patient begins to suffer involuntary muscle contractions or myoclonus, loses control of the bladder and may even go blind.
Finally, 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 deterioration of the person's capabilities and has unique changes in brain tissue that they can be observed after the autopsy.
For now there is no conclusive diagnostic test for Creutzfeldt-Jakob disease, so its detection becomes really complicated.
The first step in making an effective diagnosis is to rule out any other treatable form of dementia. , for this it is necessary to perform a complete neurological examination. Other tests used when diagnosing CJD are spinal extraction and electroencephalogram (EEG).
Also, a computed tomography (CT) or magnetic resonance imaging (MRI) of the brain can be useful to rule out that the symptoms are due to other problems such as brain tumors, and to identify common patterns in brain degeneration of CJD.
Unfortunately, the only way to confirm a CJD is through a brain biopsy or autopsy.Due to its danger, this first procedure is not performed unless it is necessary to rule out any other treatable pathology. Further, 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 no treatment that can cure or control it.
Currently, patients with CJD receive palliative treatments with the main objective of relieving their symptoms and making the patient enjoy the highest quality of life possible. For these cases, the use of opiate drugs, clonazepam and sodium valproate can help reduce pain and alleviate myoclonus. As for the prognosis, the outlook for a sick person of CJD is quite discouraging. After six months or less, after the onset of symptoms, patients are unable to take care of themselves.
Usually, the disorder becomes deadly in a short period of time, approximately eight months ; although a small proportion of people survive 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 can not be transmitted through the air, or through any contact with a person who suffers. But nevertheless, direct or indirect contact with brain tissue and spinal cord fluid is a risk .
To avoid the already low risk of infection, people who suspect or are already diagnosed with CJD should not donate blood, tissues or organs.
As for the people who take care of 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 tissues and fluids of the patient
- Use face protection and bedding or other disposable clothing
- Clean in depth the instruments used in any intervention or that have been in contact with the patient