Creutzfeldt-Jakob Disease is a rare type of Dementia that affects the brain. One in one million people will develop Creutzfeldt-Jakob Disease each year. It is a fatal condition that causes damage to the brain that worsens rapidly over time. It is common for people with Creutzfeldt-Jakob Disease to die within a year of symptoms appearing. Death is usually the result of an infection due to being at an increased risk because of the immobility caused by Creutzfeldt-Jakob Disease. Creutzfeldt-Jakob Disease affects memory, personality, and mobility.
What is Creutzfeldt-Jakob Disease?
Creutzfeldt-Jakob Disease is a degenerative brain disorder that leads to Dementia and then death. Symptoms can be similar to those living with Alzheimer’s, but Creutzfeldt-Jakob Disease progresses more rapidly. More common types of Dementia include Lewy Body Dementia and Frontotemporal Dementia which progress at a much slower rate than Creutzfeldt-Jakob Disease.
Creutzfeldt-Jakob Disease is caused by abnormal versions of a protein in the brain called prions. These proteins are produced within our bodies and do not harm us. However, when they become distorted, they become infectious and harm our biological processes.
Is Creutzfeldt-Jakob Disease Referred To Any Other Way?
Doctors and healthcare providers will sometimes use other names when referring to Creutzfeldt-Jakob Disease. These include:
- Creutzfeldt-Jakob Disease
- Sporadic Creutzfeldt-Jakob Disease (sCJD)
- Genetic Creutzfeldt-Jakob Disease (gCJD) or Familial Creutzfeldt-Jakob Disease (fCJD)
- Variant Creutzfeldt-Jakob Disease (vCJD)
- CJD
- Jakob-Creutzfeldt Disease
- Jakob’s Disease
- Subacute spongiform encephalopathy
What Causes Creutzfeldt-Jakob Disease?
Abnormal infectious proteins cause Creutzfeldt-Jakob Disease in the brain. These are called prions.
When your body is functioning correctly, proteins are molecules made from amino acids. These help the cells in your body function accurately. At first, they start as a string of amino acids and then fold themselves into 3-dimensional shapes. Once they go through the “protein folding,” this allows them to function within the cells in our body correctly.
Prion proteins are found in your body tissue throughout almost your body. The highest amounts are in the brain and nerve cells. While we don’t know the exact role of these prion proteins, researchers suggest that they play a role in transporting messages between specific brain cells. Occasionally, mistakes occur in the “protein folding” process, and the prion protein cannot be used. Typically, these proteins get recycled by the body; however, they can build up in the brain if they are not recycled.
When this happens, brain cells die, releasing more prions that infect other brain cells. This kills clusters of brain cells, and misfolded prion proteins, called plaques, appear in the brain.
The brain becomes sponge-like because prion infections cause small holes in the brain. The damage caused by the brain causes mental and physical impairments from Creutzfeldt-Jakob Disease and will lead to death.
What Are The Most Common Types Of Creutzfeldt-Jakob Disease (CJD)?
Different types of Creutzfeldt-Jakob Disease occur by the buildup of prions in the brain. While the result is all the same (CJD), the reason why each type of Creutzfeldt-Jakob Disease occurs is different.
#1. Sporadic Creutzfeldt-Jakob Disease
Sporadic Creutzfeldt-Jakob Disease is the most common type of Creutzfeldt-Jakob Disease, although it is scarce. 80 percent of the cases of Creutzfeldt-Jakob Disease are Sporadic Creutzfeldt-Jakob Disease.
Researchers are not yet sure of how Sporadic Creutzfeldt-Jakob Disease gets triggered.
Still, a theory states that Sporadic Creutzfeldt-Jakob Disease might happen due to a normal prion protein changing into a prison. Or by the changes that generally convert a normal gene into a faulty one that makes prions.
It is more likely that those living with Sporadic Creutzfeldt-Jakob Disease have specific versions of the prion protein gene.
Nothing else has been found that increases your risk of developing Sporadic Creutzfeldt-Jakob Disease.
#2. Variant Creutzfeldt-Jakob Disease
Evidence shows that the Variant Creutzfeldt-Jakob Disease is caused by the same strain of prions that causes Mad Cow Disease, or Bovine Spongiform Encephalopathy.
In 2000, the government concluded that the prion was spread through cattle whom meat-and-bone mix was fed, which contained tiny amounts of infected brains and spinal cords.
These prions were processed into meat products and entered the human food chain. Tough, strict controls were put in place in 1996 to prevent Bovine Spongiform Encephalopathy from entering the human food chain. That meat and bone mix is now illegal to use.
Studies indicate that not everyone exposed to Bovine Spongiform Encephalopathy will develop Variant Creutzfeldt-Jakob Disease. It appears that definite cases of Variant Creutzfeldt-Jakob Disease were in those individuals with a specific version of the prion protein gene that affects how the body makes amino acids.
It is possible to get Variant Creutzfeldt-Jakob Disease from blood transfusions. The chances of getting infected are scarce due to the measures placed to prevent it.
#3. Iatrogenic Creutzfeldt-Jakob Disease
Iatrogenic Creutzfeldt-Jakob Disease occurs when the infection is spread from someone with Creutzfeldt-Jakob Disease to another through a medical or surgical procedure.
#4. Familial Creutzfeldt-Jakob Disease
Familial Creutzfeldt-Jakob Disease can generally occur by a family history of the disease or test positive for a genetic mutation associated with Creutzfeldt-Jakob Disease.
Is Creutzfeldt-Jakob Disease Contagious?
Technically, Creutzfeldt-Jakob Disease is contagious, but only through injection or consuming infected brain or nervous tissue.
No evidence proves that Sporadic Creutzfeldt-Jakob Disease is being spread to others through day-to-day contact, including by limited to airborne droplets, blood, or sexual contact.
What Are The Risk Factors Of Creutzfeldt-Jakob Disease?
In most cases of Creutzfeldt-Jakob Disease, there are no risk factors. However, a few factors seem to connect to different types of Creutzfeldt-Jakob Disease.
- Age. Sporadic Creutzfeldt-Jakob Disease occurs later in life, around 60 years of age. Suppose you develop an Onset of familial Creutzfeldt-Jakob Disease. In that case, it can happen a little younger. If you are affected by Variant Creutzfeldt-Jakob Disease, it can affect people much younger, usually in their late 20s.
- Genetics. People with Creutzfeldt-Jakob Disease have a genetic mutation that causes the disease. To develop familial Creutzfeldt-Jakob Disease, a child must have a mutated gene inherited from a parent. The chance of passing this mutation to a child is 50%.
- Exposure to Infected Tissue. Individuals who have received infected manufactured human growth hormone or transplanted of infected tissue that cover the brain may be at risk of getting infected from Creutzfeldt-Jakob Disease.
The risk of getting Variant Creutzfeldt-Jakob Disease from eating contaminated beef is extremely low.
Symptoms Of Creutzfeldt-Jakob Disease
When it comes to Creutzfeldt-Jakob Disease symptoms, they take a long time to appear. As the disease destroys brain cells, signs will become noticeable. The condition is usually fatal within one year because of its rapid progression.
Often Creutzfeldt-Jakob Disease mimics Alzheimer’s Dementia or Huntington’s Disease. Still, the symptoms develop within days or weeks rather than years.
Symptoms of Creutzfeldt-Jakob Disease include:
- Loss of memory and intellect
- Changes in personality
- Loss of balance
- Poor coordination
- Slurred Speech
- Vision problems that lead to blindness
- Abnormal/jerking movements
- Loss of brain function and mobility.
As Creutzfeldt-Jakob Disease progresses, coordination and muscle control worsens. Eventually, those living with CJD will lose their vision, ability to move and speak. Those living with Creutzfeldt-Jakob Disease will ultimately enter a coma.
Through investigation of autopsies, researchers know that brain tissue of those living with Creutzfeldt-Jakob Disease leads to specific changes not seen in other forms of Dementia.
Initial Symptoms of Creutzfeldt-Jakob Disease
Initial neurological and psychological symptoms of those living with Creutzfeldt-Jakob Disease may include:
- Difficulty walking caused by poor balance and coordination
- Slurred speech
- Numbness in parts of the body
- Vision problems/ double vision
- Dizziness
- Hallucinations
- Severe depression
- Withdrawal from loved ones and friends
- More Irritable
- Anxiety
- Insomnia
Advanced Symptoms of Creutzfeldt-Jakob Disease
As Creutzfeldt-Jakob Disease progresses, symptoms get more severe. They may include:
- Loss of coordination affects walking, speaking, and balance.
- Muscle twitches
- Spasms
- Urinary incontinence and bowel incontinence
- Blindness
- Difficulty swallowing
- Loss of speech
- Loss of voluntary movements of the body
- Loss of memory
- Ability to concentrate
- Confusion
- Becoming more agitated
- Aggressive Behavior
- Loss of appetite
- Weight loss
- Paranoia
- Appropriate responses
Final Stages of Creutzfeldt-Jakob Disease
For those living with Creutzfeldt-Jakob Disease, as they move into the final stages, they will be Bedridden. Often they are unaware of their surroundings and need 24-hour care. They can no longer speak to those caring for them.
Death is near, and nothing can prevent it. In their final stages, individuals living with Creutzfeldt-Jakob Disease will usually pass away due to infections like pneumonia, respiratory failure, or their lungs stop working, preventing them from breathing.
Diagnosis of Creutzfeldt-Jakob Disease
There are no tests that can confirm Creutzfeldt-Jakob Disease. A brain biopsy is the only thing that can confirm CJD, and it is much too risky to do on a person who is alive.
Some tests are available to help healthcare providers diagnose Creutzfeldt-Jakob Disease.
- Physical Examination. During a physical examination, healthcare providers will look for muscle spasms and check the reflexes of those living with Creutzfeldt-Jakob Disease. This may result in muscles that are more reactive than normal. Healthcare providers may also notice more withered muscles depending on where the disease is affecting the brain.
- Eye examination. An eye test may show a loss of vision. An EEG may discover unusual electrical impulses that may characterize the disease.
- MRI will rule out a stroke and may also show changes seen in those living with Creutzfeldt-Jakob Disease.
- Test Spinal Fluid. Healthcare providers may order a spinal tap to rule out other forms of Dementia. This test will show if there is an infection of added pressure in the central nervous system. If the individual has CJD symptoms, 14-3-3 protein is present in the spinal fluid; they may have Creutzfeldt-Jakob Disease.
A brain biopsy after death that shows the brain spongy with tiny holes and nerve cells that have been destroyed will confirm Creutzfeldt-Jakob Disease.
Tips for Visiting Your Doctor
You want to get the most out of your visits with your healthcare provider. These tips can help.
- Know why you are visiting the doctor.
- Write down any questions that you have so that you remember to ask them.
- Bring someone with you to help you remember your questions and help you remember key points of the visit.
- Write down any new diagnosis, new medications, or available treatments.
- Understand why new medications are being prescribed and the side effects of each one.
- Ask about current treatment options that can help.
- Write down follow-up appointments, including recommended therapy appointments. Be sure to write the date, time, location, and purpose of the visit.
- Be sure you know how to contact your doctor if you have any questions before your next visit.
- Get a care summary when leaving the office to remember the key points of the visit.
Treatment of Creutzfeldt-Jakob Disease
Currently, there are no cures for Creutzfeldt-Jakob Disease. There is no medication at this time that helps control or slow its progressions. Scientists continue to research a variety of treatments that may work in the future.
When it comes to treatment for those living with Creutzfeldt-Jakob Disease, healthcare providers try to relieve symptoms and make those living with Creutzfeldt-Jakob Disease as comfortable as they can. This is usually done through medication.
Towards the late stages of Creutzfeldt-Jakob Disease, caregivers will frequently move individuals living with Creutzfeldt-Jakob Disease to prevent bedsores. Typically they will have a catheter and receive nutrients through an IV.
It is vital for those living with Creutzfeldt-Jakob Disease to write their advance directive. Things that should be included in your advanced directive are:
- Where you want to be treated. Do you want to be treated at home, in hospice, or in the hospital?
- What type of medications you would like to take?
- Do you want a feeding tube when you no longer can swallow food and liquid?
- Do you wish to donate your organs for research after you die?
- If you lose lung function, do you want to be resuscitated by artificial means, AKA breathing tube?
What is the Prognosis of Creutzfeldt-Jakob Disease?
The prognosis is not very good for those living with Creutzfeldt-Jakob Disease. Typically within six months or less after symptoms are seen, individuals can no longer care for themselves. Those living with Creutzfeldt-Jakob Disease will typically die within one year of the first symptom. The cause of death is usually caused by infection, heart failure, or respiratory failure.
Creutzfeldt-Jakob Disease usually follows this course:
- Infection
- Severe malnourished
- Dementia
- No longer can interact with other
- No longer can function or care for themselves
- Death
Can You Prevent Creutzfeldt-Jakob Disease?
There are no known ways to prevent Creutzfeldt-Jakob Disease.
Suppose you have a family history of familial Creutzfeldt-Jakob Disease. In that case, you may talk with a genetic counselor to help you evaluate the risks associated with FCJD.
When caring for those with Creutzfeldt-Jakob Disease, the following guidelines should be followed.
- Cover open wounds and cuts on the skin
- Wear gloves when handling blood, fluid, or tissue.
- Wear disposable gowns.
- Use a face shield and eye protection to reduce splashing contaminated fluid.
- Sterilize all equipment used on those living with Creutzfeldt-Jakob Disease or near them.
- Dispose of bed linens of those living with Creutzfeldt-Jakob Disease or soak them for at least one hour in a chlorine solution.
Preventing Latrogenic Creutzfeldt-Jakob Disease
There are policies and procedures at all medical facilities to prevent Iatrogenic Creutzfeldt-Jakob Disease. These include:
- Exclusive use of man-made HGH (human growth hormone)
- Disposal / Destruction of surgical equipment used on the brain or nervous tissue of those individuals with known possible Creutzfeldt-Jakob Disease.
- Single-use kit for all spinal tap
- Individuals with a risk of exposure to Creutzfeldt-Jakob Disease or Variant Creutzfeldt-Jakob Disease are not blood donor candidates in the USA. This includes individuals who:
- Have biological relatives diagnosed with Familial Creutzfeldt-Jakob Disease.
- Received a dura mater brain graft
- Received cadaveric HGH
- Been in the UK for at least three months between 1980 and 1996.
- Spent 5 or more years in France or Ireland between the years of 1980 and 2001.
- Had a blood transfusion in the UK, France, or Ireland since 1980.
Preventing Variant Creutzfeldt-Jakob Disease
Variant Creutzfeldt-Jakob Disease is very rare in the United States. There are only 4 cases that have been reported, and evidence suggests that they were infected outside the United States.
There is no evidence that people can get Variant Creutzfeldt-Jakob Disease from consuming the meat of animals that were infected with CWD.
The CDC still highly recommends that hunters have deer and elk tested for CWD before consuming it.
Regulating Variant Creutzfeldt-Jakob Disease
Many countries have taken the necessary steps to prevent Bovine Spongiform Encephalopathy infected tissue from entering the food supply chain. The following steps have been taken.
- Tighter restrictions on importing cattle from countries where Bovine Spongiform Encephalopathy is present.
- Restrictions on Animal feed.
- Strict procedures and guidelines on handling sick animals.
- Testing methods and surveillance for tracking the health of cattle.
- Tighter restrictions on the parts of cattle that can be processed for human consumption.
When Should You Contact A Healthcare Provider?
Creutzfeldt-Jakob Disease is not a medical emergency. If you think you or a loved one is living with Creutzfeldt-Jakob Disease, you will want to make an appointment to get an examination. While there is no treatment available, doctors can do things to help patients be more comfortable.
This also allows for family planning as well as time to make advance directives and prepare for the end of their life.
Key Points of Creutzfeldt-Jakob Disease
- Creutzfeldt-Jakob Disease is a rare type of Dementia that affects the brain. One in one million people are diagnosed with CJD.
- There are different types of Creutzfeldt-Jakob Disease which include Sporadic Creutzfeldt-Jakob Disease, Variant Creutzfeldt-Jakob Disease, Iatrogenic Creutzfeldt-Jakob Disease, and Familial Creutzfeldt-Jakob Disease.
- There are no known risk factors. However, they do know that one type of Creutzfeldt-Jakob Disease can be passed down from one of your parents.
- The life expectancy of someone living with Creutzfeldt-Jakob Disease is about one year after symptoms are seen.
- There are no cures or treatments available. The only medication can help make those living with Creutzfeldt-Jakob Disease more comfortable.
Resources:
- https://www.nhs.uk/conditions/creutzfeldt-jakob-disease-cjd/causes/
- https://www.mayoclinic.org/diseases-conditions/creutzfeldt-jakob-disease/symptoms-causes/syc-20371226
- https://www.medicalnewstoday.com/articles/185884#what-is-cjd
- https://medlineplus.gov/ency/article/000788.htm
- https://www.nhs.uk/conditions/creutzfeldt-jakob-disease-cjd/symptoms/
