A.WHAT IS AMYLOIDOSIS?
- Amyloidosis is a rare disease in which the abnormal proteins called as amyloid builds up in organs and tissues
- Amyloid is produced in bone marrow and can be deposited in any tissue or organs
- When amyloid proteins or fibrils clumps together they form amyloid deposits
- Amyloid deposits can be localized to certain organs such as skin,lungs,bladder,bowel or may be systemic affecting more than a single system/organ causing serious changes. Including heart,kidneys
- As the deposit go on increasing in the tissues ,they interfere with the healthy functions of those tissues or organs
- Eventually ,these causes serious health problems which can be life threatening organ failures
B.WHAT ARE THE RISK FACTORS OF AMYLOIDOSIS ?
The factors that increases the risk of amyloidosis includes
- Age between 60 and 70 years
- Sex usually more common in men
- Other diseases such as chronic infections or inflammatory diseases increase the risk
- Positive family history
- Kidney dialysis
- TYPES OF AMYLOIDOSIS
There are approximately 30 types of amyloidosis caused by different proteins folding,but only a few have been linked to major health problems
The type of proteins and where it collects determines the type of amyloidosis.The different types include
1.AL amyloidosis (immunoglobulin light chain amyloidosis)
- A in AL stands for Amyloid and L for light chain protein
- One of the most common type can affect skin,nerves,kidneys,liver,heart
- Cause is unknown,but it happens when the bone marrow makes abnormal antibodies that can’t be broken down
- It is a disorder of plasma cells ,a type of white blood cells which are responsible for production of immunoglobulin or antibodies in the normal immune system
- It is linked to bone marrow cancer called multiple myeloma cancer ,
- It is also known as primary amyloidosis
- It was previously known as secondary amyloidosis/autoimmune amyloidosis,the A protein builds up in tissues
- It mostly affects the kidney, spleen but occasionally,the digestive tract,liver,or heart
- It is associated with some chronic infections or inflammatory diseases such as rheumatoid arthritis or inflammatory Bowel disease such as ulcerative colitis,Crohn’s disease .
3.Hereditary or familial amyloidosis
- This condition is sometimes called as ATTR amyloidosis
- It is a rare form usually inherited and often affects the kidneys,heart,nerves and liver
- Many genetic defects present at birth are associated with an increased risk of amyloid disease
- The most common ones are composed of the protein transthyretin(TTR) ,produced in the liver
- Familial amyloidosis is inherited in an autosomal dominant pattern
4.Dialysis related amyloidosis
- It is more common in older adults and people who have been on long term dialysis
- The amyloid deposits are composed of beta 2 microglobulin that often builds up around bones,joints and tendons
5.Wild type Amyloidosis
- It is known as senile systemic amyloidosis
- It occurs when TTR protein made by liver is normal but produced amyloid for unknown reasons
- Tends to affect men over age of 70 and targets the heart often
- It is also known as carpal tunnel syndrome
- The affected sites includes bladder,skin,throat or lungs
- This type has better prognosis when compared to other varieties
- Correct diagnosis is important so that treatments that affect the entire body can be avoided
D.WHAT ARE THE POSSIBLE SIGNS and SYMPTOMS ?
In some cases symptoms may not present until the condition is advanced or severe.when symptoms are evident ,they usually depend on the organs affected.They include
- Weakness and severe fatigue
- Shortness of breath
- Foamy urine
- Swelling ankles and legs
- Diarrhea with blood /constipation
- Enlarged tongue
- An irregular heart beat
- Difficulty in swallowing
- Unintentional Weight loss
- Numbness, Pain or tingling in hands or feet
- Skin changes such as purple patches around eyes
- Thickening or easy bruising
- High level of proteins in urine
- Less appetite
- Sweating and coordination problems
- Joint pains
E.HOW ID IT DIAGNOSED?
To make a diagnosis,the doctor will review patients medical history and carry out a physical examination similar to diagnose other conditions. They include basic tests to advanced imaging techniques
a.Blood test :
- Used to look for amyloid deposits in urine and also to identify for any kidney damage
b.Urine test or urinalysis:
- Used to identify any amyloid deposits /abnormal protein in blood which indicates amyloidosis and the function of kidneys
- Kidney biopsy is also done to identify amyloid protein in tissues ,helps to identify the type of Amyloidosis
d.Imaging tests of the affected organs such as :
X-rays ,CT scans ,MRI,Ultrasounds
- This may help to determine the extent of the condition
e Genetic tests:
- Helps to look for any gene mutations that cause amyloidosis
- The familial amyloidosis can be ruled out
F.WHAT ARE THE AVAILABLE TREATMENT OPTIONS ?
There is no cure for amyloidosis. This can be prevented only by treating underlying cause .Treatment options may help limit symptoms and limit further amyloid production .Specific treatment depends on the type of Amyloidosis,the type of underlying disease,patients overall health and so
Moreover ,the treatment team includes experts from different disciplines such as cardiologist,hematologist,Nephrologist, neurologist etc
The type of treatment includes is
- Targeted therapies
- Stem cell /Organ Transplantation
- Usually done through intravenous route or oral mode
- Commonly used drugs are cyclophosphamide,Prednisone, dexamethasone etc
- Immunomodulatory drugs
- Monoclonal antibodies
- Proteasome inhibitors
3.Stem cell or bone marrow transplantation
- The chances of survival is improved with the high dose chemotherapy and stem cell Transplantation procedures
- This treatment option may not be suitable for all patients
Chemotherapy with stem cell transplant is advised for AL Amyloidosis
Treatment for underlying condition for AA amyloidosis
- May include anti inflammatory medications to treat rheumatoid arthritis
Treatment for familial Amyloidosis
- Liver transplantation
Treatment for dialysis related amyloidosis
- Treatment may include changing the mode of dialysis or having a kidney transplant
To manage other symptoms ,the doctor may recommend.
- Pain medications
- Low salt diet
- To control heart rate and blood thinning medications are included
If a patient does not seem to respond to the given or advised treatment then the condition is known to be at an advanced stage or terminal which cannot be reversed back where the hospice care is provided to the affected individual.
G.WHAT ARE THE COMPLICATIONS ASSOCIATED WITH AMYLOIDOSIS?
- Irregular heart beats
- Shortness of breath
- Kidney failure
- Nerve damage causing Pain,numbness or tingling sensation of fingers or feet
- Faint due to blood pressure alterations
- FOLLOW UP CARE
1.Making healthy lifestyle choices
Eating good foods ,drinking appropriate amount of fluids or fruit mixes and maintaining physical and mental fitness is an prominent way to stay healthy
2.Keeping an eye over recurrence
Immediate expert consultations in case of any noticed signs and symptoms can be a cause for recurrence .Careful observations are needed
4.Managing the side effects
Managing side effects by following regular intake of medications advised by experts and controlling underlying conditions through the advised methods
5.Regular Track on the health records
Regular check on vitals ,observations for side effects ,signs and symptoms and the stage of condition or the type of underlying disease are noted to know the level of illness the patient is in.This helps to know the condition of the patient better to continue with the future treatment plan.
I.FREQUENTLY ASKED QUESTIONS
1.What is the main cause of Amyloidosis?
- Mainly caused by the trigger of inflammatory diseases such as rheumatoid arthritis
- Hereditary amyloidosis usually have a positive family history
2.What are the warning signs of Amyloidosis?
- Severe fatigue or weakness
- Weight loss
- Swollen legs or hands
- Bruises over skin
- Numbness or tingling in hands or feet
- Discoloration around eyes
3.what is the life expectancy of Amyloidosis?
- Prognosis of Amyloidosis is known to be poor .The survival life expectancy is about 1 – 1 ½ year depending upon the type and stage of condition the patient is dealing with .
- If in case of cardiac involvement the prognosis is very poor or even worst with survival duration of 6 months or even less .Not many can survive more than 10 years
4.what are 3 types of amyloidosis?
The three types of amyloidosis are AL Amyloidosis which is also known as primary amyloidosis,AA Amyloidosis which is also known as secondary amyloidosis and the third type include familial Amyloidosis.
5.Can a blood test detect amyloidosis?
Yes,blood test which are usually the basic or primary test which helps to analyze the abnormal protein in urine helps to identify the condition amyloidosis
6.Can amyloidosis be cured
No,there is no cure for amyloidosis till date .The fibrils or the protein cannot be removed .But there are ways to treat the condition by preventing further production of amyloid protein through certain medications and procedures
7.Can COVID cause amyloidosis
Yes,there is a evidence which shown that ,the COVID virus increases the production of Serum Amyloid A or (SAA) which will be responsible for causing systemic AA amyloidosis/secondary amyloidosis
8.How do you prevent amyloid deposits build up?
Consuming plenty of Omega 3 fatty acids which known to reduce beta-amyloid plaques .As we know that these healthy fats are rich in fishes such as salmon,tuna,sardines,or fish oil
9.How does amyloidosis cause death?
Yes ,Sudden death in patients with Amyloidosis is usually due to pulseless electrical activity followed by ventricular arrhythmias,but may result from thromboembolic complications and secondary systemic diseases secondary to infiltration or dysfunction
10.Is amyloidosis a terminal illness?
Yes,it is a terminal illness if not treated at the right time .So the underlying disease or inflammation needs to be treated beforehand.
11.What is the latest treatment for amyloidosis?
Birtamimab is a choice of drug which is an monoclonal antibody which helps by targeting the amyloid protein
12.How quickly does amyloidosis progress?
How long it takes to progress or get deposits depends on the patient’s condition and affected organs .For affected kidneys the person can stay for approximately 5-10 years.
13.Is amyloidosis an autoimmune disorder?
No,but the underlying cause might be an autoimmune disease or any chronic infections or inflammation
14.How long is the treatment for amyloidosis?
The duration of treatment may vary but can be approximately for period of 6 months to 2 years
15.Is Vitamin C good for amyloidosis?
Yes,Animal studies have shown that vitamin c can breakdown the amyloid and prevent it from further worsening of the disease .But it still seems to be an controversial regarding its usage in humans
16.Is amyloidosis a death sentence?
Yes,it can be a fatal disease cause it affects almost every system of the human body starting from heart,liver,spleen,nervous system,kidneys,stomach ,intestines etc
17.What can be mistaken for amyloidosis?
ATTR amyloidosis with neuropathy is commonly misdiagnosed
18.Is green tea good for amyloidosis?
Yes, the polyphenol compound found in green tea is considered to benefit the patients with Amyloidosis and myeloma as well
19.How do you slow down Amyloidosis?
To slow down the disease the production of amyloid is ceased with the interruption with , chemotherapy,immunotherapy or steroids medications
20.Which diseases are associated with Amyloidosis?
They are commonly associated with chronic disorders such as Diabetes, Tuberculosis,Congestive heart failures ,chronic kidney failures ,arthritis, Inflammatory bowel diseases,myeloma,cancers etc