Table of Contents
- What is Amyloidosis?
- Amyloidosis History
- Amyloidosis Risk Factors
- Amyloidosis Screening
- Amyloidosis Symptoms
- Amyloidosis Diagnosis and Stages
- Amyloidosis Treatments and Drugs
- The Importance of Clinical Studies
- About Informed Consent
- Questions to Ask Yourself Before Testing
- Things to Do and Avoid When You Have Amyloidosis
- Amyloidosis Coping and Support
Amyloidosis is a rare but serious disease that develops when a protein known as amyloid builds up in your organs.
Amyloid is an abnormal substance that is usually produced in the bone marrow but can spread to any tissue or organ.
The life expectancy for those living with untreated amyloidosis does not extend beyond two years, which is why it is important for you to know the symptoms and options available for nursing the disease.
What is Amyloidosis?
Amyloidosis comes in many forms.
There is localized amyloidosis that causes the amyloid protein to affect a particular area of the body without impairing the function of other tissues and organs.
Then, there is systemic amyloidosis that affects several tissues throughout the body and causes serious changes in organs that include the kidneys, heart, and lungs.
Primary amyloidosis (systemic AL) is a disease of its entity, while secondary amyloidosis (systemic AA) develops as a byproduct of another illness in the body.
Chronic infections such as tuberculosis and diseases like rheumatoid arthritis sometimes come with the added disadvantage of amyloidosis.
A further breakdown of the most common types of amyloidosis is as follows:
- Primary amyloidosis (AL): The most common form of the disease. Primary amyloidosis happens when the bone marrow produces too many antibody-protein fragments. The protein builds up in the bloodstream and may deposit into tissues if left untreated.
- Familial (hereditary) amyloidosis (AF): A genetic form of the illness that is passed down from one generation to the next. Familial amyloidosis often affects the nerves and kidneys.
- Secondary amyloidosis (AA): A form of the disease that develops alongside other chronic illnesses and infections. Inflammatory ailments such as rheumatoid arthritis and tuberculosis increase your chances of developing secondary amyloidosis.
- Localized amyloidosis: Typically associated with aging, localized amyloidosis occurs as the result of the body’s tendency to create amyloid protein. Individuals living with type two diabetes and Alzheimer’s disease are more susceptible to developing localized amyloidosis during their lifetime. Protein tends to build up in the pancreas when type two diabetes is present. The substance is stored in the brain when you have Alzheimer’s disease. Abnormal protein can be deposited into tissue at any time and subsequently lead to amyloidosis.
History has shown that amyloidosis is not merely a disease brought on by lifestyle choices.
Reports of the illness during the twentieth century were linked to genetics, which presents the possibility of familial amyloidosis (AF).
This rare form usually takes root in the liver by depositing a protein called transthyretin (TTR) in the organ.
Individuals with AF have a 50 percent chance of passing the illness on to their offspring.
Familial amyloidosis can also affect the nerves and heart.
There are more than 30 different amyloid proteins.
Each type of substance arranges in a structure known as a fibril.
By definition, fibrils are lightweight molecular proteins that come from other proteins in the body.
Fibrils of amyloid aid in the development of amyloidosis by floating in the blood’s plasma and settling into tissues throughout the body.
A good treatment plan can limit the production of amyloid, though it cannot completely stop the probability of fibrils developing and depositing in tissue.
Nicolaus Fontanus reported the earlier instance of amyloidosis in 1639.
A young man with jaundice and epistaxis had an abscess in the liver that caught the physician’s eye.
The patient also had a large spleen that was full of white stones.
Although Fontanus did not deem the irregularities as amyloidosis, he did give a detailed description of the enlarged spleen filled with stones that used as an identifying symptom of amyloidosis in later years.
It wasn’t until 1789 that Antoine Portal described substances present in one of his patients that resembled that of lard.
Matthias Schleiden coined the phrase “amyloid” nearly forty years later in 1838 while describing the natural amylaceous constituent of plants.
Although not initially meant to catalog medical conditions in humans, Rudolph Virchow noticed the abnormal reaction of the cerebral corpora amylacea associated with the nervous system when iodine was applied in 1854 and deemed the term “amyloid” as defined by Portal as the best way to describe the situation that he witnessed.
Virchow was convinced that cerebral corpora amylacea acted as starch and preferred the term “amyloid” over classifications of the time that included calling cerebral corpora amylacea a “waxy” or “lardaceous” substance.
Although terminology about the disease was reliable, it was not until two years after Virchow solidified the term “amyloid” that physicians took note of the different types of amyloidosis.
Samuel Wilks described a man who suffered from lardaceous viscera in 1856.
The man was 52-years-old and experienced wax-like changes in tissue that were not related to syphilis, osteomyelitis, or tuberculosis.
Previously, doctors counted amyloidosis as the result of other diseases present in the body.
Wilks’ report, however, introduced the idea of amyloid being an illness unto itself.
Primary amyloidosis was subsequently coined in the medical field.
Knowledge about the illness further evolved when the first case of amyloidosis that was related to myeloma was reported in 1867.
The patient was deceased, and an autopsy revealed unexplainable fractures of the sternum.
Such spontaneous tears were mended by a red substance that contained dozens of small nucleated cells.
The red substance was later identified as a condition related to amyloidosis, which further piqued the interest of scientists and physicians.
Magnus-Levy presented the idea of Bence Jones protein as being the “mother substance” of amyloidosis in 1931.
He substantiated his claim seven years later with a review of 31 cases in which patients were diagnosed with multiple myeloma with signs of amyloid in other organs.
Magnus-Levy placed emphasis on the protein’s ability to occupy muscles and other areas of the body not probed by previous researchers.
After months of careful analyses, Magnus-Levy concluded that myeloma cells produced amyloid unmoveable from the inhabited area.
It was around the time that Magnus-Levy was coming to conclusions concerning his research into amyloid protein as it relates to myeloma that familial amyloidosis came into play.
The first case of the disease was reported in 1956 when a Swiss family from Indiana developed carpal tunnel syndrome that was followed by peripheral neuropathy that involved the lower extremities of the body.
It was then that doctors began realizing the dangers of amyloidosis and its ability to affect anyone regardless of age and gender.
Amyloidosis Risk Factors
Although amyloidosis can impact anyone, there are a few risk factors that are worth noting.
Many people diagnosed with primary amyloidosis (AL) are over the age of 50.
While there are cases of individuals younger than 50 years old having the disease, the likelihood of such development is rare.
Men are more likely to develop primary amyloidosis (AL) during their lifetime than women.
Statistics show that nearly 70 percent of AL cases in the United States and throughout the world are male.
Chronic infections such as tuberculosis and long-standing illnesses like rheumatoid arthritis and bowel disease increase your chances of developing secondary amyloidosis (AA) during your lifetime.
Patients who have parents battling with amyloidosis are fifty times more likely to develop the disease themselves.
Individuals with distant family members living with the illness are also at an increased risk of being diagnosed with familial amyloidosis (AF) at some point.
Although the purpose of kidney dialysis is to remove significant amounts of protein from the blood, the success rate of such a quest is not always 100 percent.
Patients on dialysis treatment are susceptible to abnormal protein buildup, which could lead to amyloidosis.
The good news is that modern kidney purifying techniques have lowered the probability of amyloid being deposited in tissue.
Studies show that around 15 percent of patients with multiple myeloma cancer are also likely to develop amyloidosis.
No one test definitively detects amyloidosis. Instead, physicians utilize laboratory work, biopsy results, and images of the organs to determine a patient’s development of the disease.
- Lab Samples: Blood tests along with urine samples are used to spot abnormal amounts of protein in the body. Light chain proteins are usually a sign of something greater such as amyloidosis, which is why physicians will typically order a biopsy for further analysis of the situation.
- Biopsy: Doctors take a measure of fat from underneath the skin of the stomach to observe for signs of amyloidosis. There are more invasive methods of obtaining a sample but this approach, developed by Boston University, is the better route. Pathologists coat the sample tissue with a special dye known as Congo Red Stain to search for signs of amyloid protein. Particular attention is given to the vessel walls of the sample since protein can be deposited in tissue that makes up the passageway. Amyloid takes on a bright green color and is distinctively different from yellow collagen that has a positive impact on the body.
- Images: Lab work coupled with biopsy results usually tell doctors whether or not a patient has amyloidosis. Tests that examine the condition of your organs are typically conducted to see how far along you are with the illness.
Some medical professionals use an echocardiogram to determine the state of a patient’s heart upon determining that he has developed amyloidosis.
Both the size and function of your cardiovascular system are taken into account during the examination.
There are also imaging techniques that examine the effects of amyloidosis on the liver, kidney, and spleen.
- Electron Microscopy for the Kidney: Electron microscopy is used to analyze the health of an individual’s kidney. The screening mechanism is also helpful when searching for possible traces of amyloid protein in the body. Amyloid fibrils tend to have microscopy tendencies that are not mimicable, which makes them stick out like sore thumbs when under close observation. Fibrils carrying abnormal proteins are arranged randomly and do not extend by way of branching. Such characteristics are quickly identifiable during an electron microscope exam of the kidneys.
Amyloidosis has subtle signs that sometimes slip under the radar.
The following symptoms may be indicative of the disease:
- Swelling of your ankles and legs: While some swelling is expected immediately following a workout routine, sudden swelling that arises after completing daily tasks raises cause for concern.
- Severe fatigue and weakness: Taking a nap after a long workday is typical. Going back to sleep after waking from twelve hours of rest raises cause for concern.
- Diarrhea or constipation: Those with amyloidosis usually see blood in their fecal matter.
- Feeling full faster than normal: Becoming full after two bites of dinner could signal a problem. Unplanned weight loss is also a sign of amyloidosis.
- Skin changes: Individuals developing amyloidosis may notice their ability to bruise easily. They may also see purplish patches around the eyes and overall changes in skin color.
Irregular heartbeats, shortness of breath, and swelling of the tongue are also signs of amyloidosis.
Some patients report having a weak hand grip along with numbness in the feet or wrist.
Anemia and stomach pain that leads to nausea is associated with some cases of amyloidosis.
Amyloidosis Diagnosis and Stages
Your doctor needs a complete history of your medical experiences before accurately diagnosing you with amyloidosis.
The following elements could signal the possibility of AA development:
- Chronic inflammatory conditions such as rheumatoid arthritis and ankylosing spondylitis
- Chronic infections such as bronchiectasis and osteomyelitis
- Inflammatory bowel disease
- Ongoing fevers even when other infections are not present
- A lymphoproliferative disorder is known as Castleman disease
Although there is no accurate method of prevention for the disease, you can ward off secondary amyloidosis by first treating underlying illnesses.
Taking medication for tuberculosis that keeps inflammation to a minimum decreases the chances of amyloid protein developing and depositing in tissue.
Those prone to developing familial amyloidosis can seek genetic counseling to take steps in warding off the possibility of living with the disease in future years.
Much like AA, primary amyloidosis (AL) is also difficult to identify and diagnose because of its ability to develop in different areas of the body.
Symptoms of the disease in the primary form are often too vague for physicians to take notice.
Those doctors who successfully identify abnormal changes associated with primary amyloidosis often mistake the illness for another disease, which ultimately leads to the ailment going untreated for several months and years.
Such misdiagnosis is significant since individuals diagnosed with amyloidosis, despite taking preventative measures, have a small chance of long-term survival.
In fact, around eighty percent of primary cases end in death no more than two years after diagnosis.
Death within one year of being diagnosed with amyloidosis related to multiple myeloma is common as this form of the disease has the poorest prognosis.
Renal amyloidosis also has poor prospects, though it is possible for patients to survive and remain stable with supportive therapy sessions.
Dialysis and kidney transplantation have improved the prognosis for several forms of amyloidosis.
Myocardial amyloidosis, however, remains a primary cause of death because of the disease’s likelihood to cause heart failure.
The poor prognosis for amyloidosis is why it is essential that physicians identify and diagnose the disease sooner rather than later.
Amyloidosis Treatments and Drugs
Although there is no cure for amyloidosis, it is possible to undergo treatment to slow down the effects of the disease.
Chemotherapy is typically used to treat primary systemic amyloidosis as it stops the abnormal growth of cells that produce amyloid protein.
A peripheral stem cell transplant may also be necessary when treating amyloidosis.
The procedure involves surgeons collecting stem cells from your blood stored outside of the body during chemotherapy treatment.
Such cells are then returned to your body by way of a vein once chemo treatment has concluded.
Individuals in the beginning stages of amyloidosis may find chemotherapy and peripheral stem cell transplant useful.
Patients with signs of heart failure should not seek out such treatment.
Unlike primary amyloidosis where the focus is eliminating amyloid protein, nursing secondary amyloidosis is a matter of addressing the illness that caused amyloid protein development.
Anti-inflammatory medication goes a long way in preventing the spread of abnormal protein when the central cause of amyloidosis is another disease or infection.
The extremities of familial amyloidosis can be treated with a liver transplant since the base protein that leads to this form of the disease is created in the liver.
Replacing the organ in its entirety eliminates the problem and presents the possibility of the body returning to normal functions.
Individuals who undergo liver transplantation during the beginning stages of amyloidosis may find themselves at a greater advantage than those who receive such treatment during later stages of the illness since the problem organ is replaced before the protein has an opportunity to take root and spread.
In addition to a liver transplant, amyloidosis patients may undergo dialysis treatment.
The purpose of dialysis is to purify the blood, which means that fibrils moving through the bloodstream would be removed before they can deposit abnormal proteins.
Patients in the advanced stages of amyloidosis may need to undergo a kidney transplant as dialysis can only purify so much blood before the body shuts down due to its need for a good kidney.
Although certain treatments can be administered to slow down the progression of amyloidosis, the disease is usually not discovered until its later stages of development, which limits the effectiveness of nursing remedies.
Such is the reason why chemotherapy treatment coupled with bone-marrow stem-cell transplantation is such a revolutionary method of care.
Chemotherapy and Stem Cell Transplantation
Chemotherapy combined with stem cell transplantation attacks abnormal cells in the bone marrow that cause primary amyloidosis.
The results of such a procedure are quite promising since the nursing technique seeks to destroy the toxic protein instead of only treating its effects.
Although aggressive in nature, high doses of chemotherapy with stem cell transplantation is nothing short of a breakthrough for patients with primary amyloidosis.
Individuals suffering from Familial ATTR-Amyloidosis have hope with liver transplantation so long as doctors identify the particular protein causing adverse changes in tissue.
Another breakthrough in amyloidosis care is the ability to treat renal amyloidosis with a kidney transplant.
There is no particular medication for amyloidosis, but there are remedies that treat symptoms of the disease.
Diuretic medication, for instance, is used to remove excess water from the body.
Such fluids can decrease the amount of swelling that the body experiences.
There are also thickeners to add fluids to the body of individuals with swollen tongues. Such medications prevent choking.
Blood-thinning coupled with pain medication is used to keep the illness from progressing at a rapid pace.
Individuals with amyloidosis that affects the heart may receive medication that controls their heart rate.
Lifestyle and Diet Changes
Some patients find it necessary to eliminate salt from their diet when they are living with amyloidosis.
Such a decision can decrease the chances of massive swelling and lead to better management of the disease.
Individuals with gastrointestinal amyloidosis should especially make changes to their diet as the refusal to make such alterations could be detrimental.
It is important to note that amyloidosis can drastically affect the body in a short period once in its advanced stages.
It is for such reason that an early diagnosis is crucial to longevity.
The Importance of Clinical Studies
Amyloidosis is one of those illnesses where new research is ongoing.
Doctors are always looking for ways to improve treatment and ultimately find a cure for the disease.
Clinical trial tests are the best way for physicians to get the most accurate results possible when discovering new medications for amyloidosis.
Some patients are skeptical of clinical studies because of the stigma that placebo pills have received.
Researchers have used these “sugar pills” to give the illusion of treatment in past times, and such dishonesty has caused prospective candidates to shy away from participating in research development efforts.
It is important to note, though, that improvements in regulations have come over the years and only those candidates who consent to receive placebo pills are given such medication.
Credible institutions also use placebo pills in conjunction with therapy to further the patient during the process.
About Informed Consent
Patients desiring to participate in a clinical study must undergo a process known as informed consent.
It is during this time of evaluation that doctors provide a full explanation as to what the study is about and how patients will contribute to research.
Physicians must also provide a clear scope of all risks associated with the test and offer patients the option of discontinuing the study if they deem the hazards too extreme.
Those wishing to move forward with the experiment should be given a full disclosure that includes requirements such as necessary doctor visits and treatment schedule.
Complete transparency is essential to the project’s success as a patient who misses a treatment session can skewer the results of the experiment.
As the patient, you always have the right to refuse care under the scope of the study.
Such is true even if you have been a participant for several months.
A credible institution will never make you feel obligated to continue with a study of which you are no longer comfortable even if the results of such an experiment are positive.
You should ask all questions during the informed consent process and be in constant communication with your primary physician concerning the matter.
It is not a good idea to participate in any study without first speaking with your primary care physician.
Only he can determine what tests are fitting for your situation.
Questions to Ask Yourself Before Testing
You should consider the following before considering a clinical test:
- Where is the testing site? You want to go out of your way to find a cure for amyloidosis, but you do not want to go too far regarding travel. Count up all of the cost before signing up for a clinical test located in another state. You may find yourself paying more in the long run if you fail to plan accordingly.
- How is your health? Most researchers refuse to test patients who already have health problems. Understanding your medical state is the best way to avoid denial after traveling dozens of miles to arrive at the study.
- What is the purpose? Your mission may be to find a cure for amyloidosis. The wrong researchers, however, may use your illness for personal gain. You should do your fair share of research before simply signing up for a study.
- What do you hope to get out of the experience? Desperately wanting to rid yourself of amyloidosis is not enough reason to undergo clinical tests. You should aim to learn something new with every study so that living with the illness will be less painful.
Things to Do and Avoid When You Have Amyloidosis
Below are a few things that you should do if you feel that amyloidosis has come your way.
- Report irregularities: Amyloidosis is a serious disease with the capacity to bring about death within two years of diagnosis. You should, therefore, contact your doctor the moment that you show signs of the disease.
- Change your lifestyle: Diet and exercise have positive effects on your body. Consuming green vegetables may strengthen your body for the journey ahead.
- Research treatment methods: Chemotherapy and stem cell transplantation may be breakthrough treatments for amyloidosis, but you should not just take your physician’s word for it. Consider exercising due diligence by researching treatment methods before consenting to any procedures.
- Tell family members and close friends: You need a support system when you have amyloidosis. You also need family members to be aware of the prognosis of your illness so they can plan appropriately.
You should avoid the following tendencies if you fear the worst that is amyloidosis:
- Do not run from the problem: Some patients learn of their diagnosis and choose to avoid all methods of treatment. Such behavior is detrimental to your health due to amyloidosis’ rapid and dangerous effects.
- Do not keep the issue a secret: It is harder to undergo extensive treatment such as chemotherapy or dialysis without a caretaker to nurse you back to health after the procedures. You should not aim to battle the disease alone.
- Do not live in denial: While there are some success stories concerning amyloidosis, there are also a few tragedies in which patients have died within months of being diagnosed with the disease. You should, therefore, be optimistic yet realistic when setting goals for recovery.
Amyloidosis Coping and Support
Receiving the devastating news of amyloidosis can overwhelm the strongest individual.
Such is the reason why you should have a reliable support system that consists of family members and friends who are willing to sit alongside you at doctor’s appointments.
Formal support groups and one-on-one therapy may also help you cope with the reality of having the disease.
The worst thing that you can do upon being diagnosed with amyloidosis is throw in the towel.
You should set life goals even if you are in the final stages of the disease.
Dreams give you something to look forward to while making you feel as if some aspects of your life are within your grasp.
Setting goals that are challenging yet attainable helps you get the most out of life.
You should never let a disease such as an amyloidosis stop your life in its tracks.
Amyloidosis is a serious illness that is difficult to detect.
You should know the signs of the ailment and take every measure to prevent the disease from spreading.
The information on this website has not been evaluated by the Food & Drug Administration or any other medical body. We do not aim to diagnose, treat, cure or prevent any illness or disease. Information is shared for educational purposes only. You must consult your doctor before acting on any content on this website, especially if you are pregnant, nursing, taking medication, or have a medical condition.
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