What Is Amyloidosis?
4,000 cases of AL Amyloidosis are reported each year in the United States.
If you or someone you loved has been diagnosed with Amyloidosis, you may wonder what's the cause and how it gets cured.
Currently, there are no cures for Amyloidosis, but this rare disease has various treatments to help slow the development of this condition.
What is Amyloidosis?
Mayo Clinic describes Amyloidosis is a rare disease that interferes with a person's normal organ function.
Amyloidosis is caused by a build-up of a protein called amyloid.
The body typically does not produce amyloid on its own, but in rare cases, the liver or pancreas can create a protein that changes into amyloid and gets deposited into tissue forming a plaque-like substance called fibrils.
Amyloidosis occurs when an abnormal protein called amyloid builds up in a person’s organs and results in a protein misfolding disorder.
The amyloid can be formed from several different types of protein. Amyloidosis is also associated with bone marrow production.
The bone marrow produces antibodies that are typically broken down and process out of the body's system. When this process fails, Amyloidosis occurs.
The heart, kidneys, liver, spleen, nervous system, and digestive tract can all be affected by Amyloidosis.
Different variations of this disease may improve with treatment, but can also lead to life-threatening organ failure.
What are the different types of Amyloidosis?
There are various forms of Amyloidosis.
Variations of Amyloidosis are:
- AL Amyloidosis
- Hereditary Amyloidosis
- AA Amyloidosis
- AB2M Amyloidosis (also known as dialysis-related beta2-microglobulin)
What is AL Amyloidosis?
AL Amyloidosis results from an abnormality of the plasma cells in the bone marrow and misfolding of the proteins
AL Amyloidosis is the most common type of Amyloidosis.
These are then deposited in and around the tissues, nerves, and organs and builds up in an organ.
What is AA Amyloidosis?
AA Amyloidosis is the second most common type.
AA Amyloidosis is derived from the inflammatory protein serum amyloid and is associated with chronic inflammatory diseases.
Infections and inflammation cause the liver to produce high levels of SAA ( serum amyloid A protein), which if goes for too long, portions of the protein deposit into tissues and cause damage.
What is Hereditary Amyloidosis?
Hereditary Amyloidosis (a hereditary Amyloidosis variant) is caused by mutations in the transthyretin gene.
The mutation is deposited into the nerves and organs and builds up, leading to the harm of function.
There are two main classifications of Hereditary Amyloidosis — ATTR and Non-TTR
What is Hereditary Amyloidosis ATTR?
Hereditary Amyloidosis ATTR represents mutations in the TTR gene that are inherited, which makes the transthyretin unstable.
The amyloid fibrils damage nerves and organs depending on the type of TTR mutation that was inherited.
What is Hereditary Amyloidosis ATTR Non-TTR?
Non-TTR: Rarer than the ATTR variations, this consists of other mutated inherited genes.
Those include Apolipoprotein AI, Fibrinogen Aa, Lysozyme, Apolipoprotein AII, Gelsolin, and Cystatin C.
What is AB2M Amyloidosis?
AB2M Amyloidosis occurs in individuals with long-term kidney dialysis and is associated with the aggregation of beta2-microglobulin.
The B2M protein increases after kidney failure.
After years of ‘overexpression’ of misfolded amyloid proteins, it becomes hard for the kidney to clear the accumulated B2M protein.
This results in the accumulation and deposit of the amyloid protein in bones, joints, and tendons.
What causes Amyloidosis?
Amyloidosis is caused when the folding of normally soluble proteins becomes abnormal.
This leads to the formation of fibril in one or more body organs, systems, or soft tissues.
The build-up of protein (amyloid deposits) causes progressive malfunction and eventual failure of the affected organ.
Since the proteins are unstable, they are deposited faster than they can be broken down compared to the normal breakdown and production pace.
What are the symptoms of Amyloidosis?
Symptoms of Amyloidosis include:
- Swelling of the ankles and legs
- Severe fatigue and weakness
- Shortness of breath
- Unable to lie flat in bed because of shortness of breath
- Hands, wrist or feet feeling numb, tingling or pain
- Diarrhea along with constipation and blood
- Unintentional weight loss of more than 10 pounds
- An enlarged tongue (rippled edges)
- Change in skin (thickening or easy bruising and purplish patches around eyes)
- Irregular heartbeat
- Difficulty swallowing
Who is at risk of Amyloidosis?
Factors that may increase Amyloidosis in a person include prior health history, race, age, and gender.
A person's family history may contribute to Amyloidosis. Patients who have had kidney dialysis, cancer, or other autoimmune disorders may be at higher risk.
Chronic infections or inflammatory diseases may also elevate the risk.
People of African descent are at a higher risk of carrying a genetic mutation that could render them more susceptible to Amyloidosis.
Amyloidosis is most commonly diagnosed in persons who are 60-70 years of age.
Amyloidosis is more common in men vs women.
How is Amyloidosis diagnosed?
The diagnosis of Amyloidosis requires aspiration of the abdominal fat pad and/or biopsy of the involved organ.
If Amyloidosis is suspected, a biopsy of the involved organ will give yield.
Material from the biopsy is put under a microscope and stained with a red dye that produces a green color when amyloid is present.
If present, the patient will then undergo more evaluation to find other organs that might also be infected.
The type of Amyloidosis must be determined soon after the original diagnosis.
Manifestations of the plasma cell dyscrasia are found with AL Amyloidosis 98% of the time.
The remaining 2% of cases are said to be caused by B-cell lymphoma.
Testing for it consists of immunofixation and protein electrophoresis of the blood and urine, bone marrow biopsy with immunochemical staining of plasma cells for kappa and lambda light chains, and a serum-free light chain assay.
Diagnosis of ATTR Amyloidosis is confirmed after performing molecular genetic tests looking for mutations in the TTR gene from a blood sample.
Rare forms of familial Amyloidosis may be present if there is an absence of mutations of transthyretin.
What treatment is given for Amyloidosis?
As there is no cure for Amyloidosis, different treatments can help to limit the further production of amyloid protein.
Treating underlying conditions caused by other conditions can be helpful.
Depending on the type of Amyloidosis, treatments can vary.
What medications are prescribed for Amyloidosis?
Depending on the type of Amyloidosis, certain medications may be prescribed.
Chemotherapy may be prescribed for Amyloidosis
This stops the growth of abnormal cells that produce the protein that forms amyloid.
Heart Medications may be given for patients who have been diagnosed with Amyloidosis
Doctors may suggest blood thinners to reduce the risk of clots and control heart rate.
There are other targeted therapies for Amyloidosis
Drugs such as patisiran (Onpattro) and inotersen (Tegsedi) can interfere with commands sent by faulty genes that create amyloid.
Drugs such as tafamidis (Vyndamax, Vybdaqel) and diflunisal can stabilize bits of protein in the bloodstream along with preventing them from transforming into amyloid deposits.
What surgical procedures may be performed as part of a treatment plan when diagnosed with Amyloidosis?
Autologous Blood Stem Cell Transplant may be performed for Amyloidosis
This collects the stem cells from the blood and stores them away while intaking a high-dose of chemotherapy. The stem cells are then returned through the veins.
Dialysis may be given for Amyloidosis
Dialysis is required for people who experience kidney damage as a result of Amyloidosis.
A machine is used to filter waste, salt, and fluid from the blood regularly.
Questions to ask your doctor if you've been diagnosed with Amyloidosis:
According to MayoClinic.org, patients should ask these questions during a doctor's appointment.
- What’s the most likely cause of my symptoms?
- What type of Amyloidosis do I have?
- What organs are affected?
- What stage is my disease?
- What kinds of tests do I need?
- What kind of treatments do I need?
- Am I at risk of long-term complications?
- What types of side effects can I expect from treatment?
- Do I need to follow any dietary or activity restrictions?
- How can I manage this with my other health conditions?
Isabell Tenorio is a writer who covers health, love and relationship topics.