ABOUT the

The

The Joseph Peter Bartzis Foundation was formed to bring awareness to Amyloidosis, to help fund research to find a cure and to encourage young adults to receive annual physicals and blood tests.

The mission of the JPB Foundation is twofold:

We want to bring awareness to Amyloidosis, a rare blood disorder that occurs when plasma cells in your bone marrow change or mutate, and raise funds to support advancing research in the field. It is estimated that 4,500 people develop Amyloidosis annually, but so often this disease goes undiagnosed or the diagnosis is delayed.
We encourage young adults to advocate for their health and go for annual physicals and blood work. The reason is more than an early diagnosis of Amyloidosis, but the plethora of other health conditions that are out there.

Although there is no current cure for Amyloidosis, the JPB Foundation’s goal is to raise and donate $100,000 in 2020 to Mayo Clinic in Joey’s name. This money will be used to support funding of a study that was completed, resulting in testing that can diagnose AL Amyloidosis earlier. Will you help us reach our goal?

“Today, there are an increasing number of health conditions affecting the general public.

Please don’t wait until it is too late. Be an advocate for your own health. I don’t want another young adult to go undiagnosed with a disease that can be treated with an early diagnosis.”

- Peter Bartzis

Foundation Initiatives

Raising funds for research at the Mayo Clinic, with a goal of donating $100,000 in 2020 to support a study on early diagnosis of AL Amyloidosis.

Promoting awareness about AL Amyloidosis and its impact on patients and families.

Encouraging young people to prioritize their health and wellness, and to seek medical attention promptly if symptoms arise.

About AL Amyloidosis

Amyloidosis is a rare disease that occurs when a substance called amyloid builds up in your organs. Amyloid is an abnormal protein that is produced in your bone marrow and can be deposited in any tissue or organ. Amyloidosis can affect different organs in different people, and there are different types of amyloid. Amyloidosis frequently affects the heart, kidneys, liver, spleen, nervous system, and digestive tract. Severe amyloidosis can lead to life-threatening organ failure.

AL amyloidosis (immunoglobulin light chain amyloidosis) is the most common type and can affect your heart, kidneys, skin, nerves and liver. Previously known as primary amyloidosis, AL amyloidosis occurs when your bone marrow produces abnormal antibodies that can't be broken down. The antibodies are deposited in your tissues as amyloid, interfering with normal function.

The symptoms of AL amyloidosis vary by patient. Initially, the symptoms can be minor or similar to those of many other conditions or systemic diseases.  Some symptoms can announce themselves quickly and be very noticeable. For each patient, the symptoms will depend on which organs are affected by the amyloid deposits.  It also depends on the degree that the organ function is impaired. Fatigue, weight loss and swelling are the most common symptoms.

Impairment of many organs, nerves, and soft tissues can cause symptoms, among them the kidneys, heart, the GI tract (the digestive system) and the nervous system.

The Kidneys

Chronic kidney disease is common in patients with AL amyloidosis. Amyloid deposits in the kidneys can affect how they filter toxins and proteins in the blood.  This may result in a condition called nephrotic syndrome, where there is excess protein in the urine and the lower legs can become swollen (also called “edema”). Swelling can affect the belly, arms, and lungs as well. In some cases, the amyloid deposits will cause the kidneys to lose the ability to purify the blood, which can lead to kidney failure; also known as “renal” failure. These patients may need dialysis to replace the function of the kidneys.

The Heart

Amyloid deposits in the heart can cause it to become unusually thickened and stiff, making it unable to function efficiently. This results in shortness of breath, which may occur with only minor activity. Amyloid can also affect the electrical system of the heart, causing the normal heartbeat to speed up or slow down. This is known as arrhythmia.

The Digestive System

The digestive system is also called the gastrointestinal tract (or GI tract).  Amyloid deposits in the digestive system can cause nausea, diarrhea or constipation, weight loss, loss of appetite, or a feeling of fullness in the stomach after eating small amounts.

The Nervous System

Amyloid deposits can affect the nerves of the hands, feet and lower legs and may cause pain, numbness and tingling. A loss of sensitivity to temperature may also occur.  This is called peripheral neuropathy.  Nerves that control blood pressure, heart rate, bowel motility, erectile function, and other body functions can also be affected, causing a variety of symptoms including dizziness when standing too quickly, nausea and diarrhea.  This is called autonomic neuropathy.

Other Symptoms

There are other symptoms that are common and may have been present for some time before diagnosis, such as chronic fatigue and weakness. Some patients with AL amyloidosis experience purpura, which is bruising around the eyes or other skin areas.

Swelling may develop and cause symptoms as a result of the amyloid deposits.  For example, patients may have carpal tunnel syndrome, where amyloid deposits in the wrist area can squeeze and irritate the nerve, causing tingling and numbness in the fingers and thumb. Deposits in the tongue may lead to a swollen and enlarged tongue, called “macroglossia.” In addition, some patients experience the “shoulder pad” symptom; where the patient notices an enlargement of the shoulders, causing restriction in the joint due to swelling and/or amyloid deposits in the surrounding tissues.

One significant, but less common, symptom is that some patients can develop bleeding or clotting problems.
Diagnostic testing for AL amyloidosis involves blood tests, urine tests and biopsies. Blood and/or urine tests can indicate signs of the amyloid protein, but only bone marrow tests or other small biopsy samples of tissue or organs can positively confirm the diagnosis of amyloidosis. Some tests are only done once to establish a diagnosis of AL amyloidosis, while others will be repeated to monitor disease progression and response to therapy.

Blood and Urine Tests

Blood and urine tests should be performed to help verify the diagnosis. They can also aid in discovering which organs are involved and how much they are compromised. These tests may include:

A 24-hour urine collection to look at the level of protein in your urine sample. Excess protein in the urine may be an indication of kidney involvement. The level of ALP (an enzyme called “alkaline phosphatase”) in your regular blood workup. Blood tests to look for stress and strain on the heart are useful in many forms of heart disease, including AL amyloidosis. The cardiac biomarkers that are used include troponin T or troponin I, and NT-proBNP (which stands for N-terminal pro-brain natriuretic peptide) or BNP (brain natriuretic peptide). Different laboratories use one versus the other. Tests for abnormal antibody (immunoglobulin) proteins in the blood include the Freelite Assay, which shows the level of kappa and lambda light chains in a separate blood test. The Freelite Assay test is often referred to as FLC, which is an abbreviation for free light chains. Another test for abnormal immunoglobulin can be done with blood and/or urine. It is called “immunofixation electrophoresis.”

These blood and urine tests can help with the diagnosis and used often while monitoring response to treatment.

Echocardiogram and Imaging

The echocardiogram (also called “echo”) is an ultrasound of the heart. A doctor can look for amyloid deposits in the heart, while viewing the size and shape of it and the location and extent of any impact of amyloid.

Recently, other imaging tests for the heart have also shown to be useful. One test is the MRI (magnetic resonance imaging), and, in this instance, is also referred to as CMR (for cardiac magnetic resonance). Pyrophosphate scanning, a nuclear medicine test, is also used to evaluate whether an unusual type of abnormality of heart muscle function (“cardiomyopathy”) is present. Current data suggests this scan may be useful in distinguishing different types of amyloid heart disease.

Tissue Biopsy

A tissue biopsy involves the removal of a small sample of tissue to find evidence of amyloid deposits. Any kind of tissue or organ biopsy must be sent to a lab for microscopic examination, where the tissue is stained with a dye called “Congo-red stain.” After putting it under a microscope, amyloid protein is discovered if it turns an apple-green color, resulting in a diagnosis of amyloidosis. Possible areas for less invasive biopsies include:

A fat pad biopsy (from under the skin in the abdomen); Labial salivary gland biopsy (the inner lip); and, Skin or bone marrow.

With combinations of these blood and urine tests and tissue biopsies, a positive diagnosis can be confirmed in a high percentage of patients.

Bone marrow aspirate and biopsy

There are two types of bone marrow tests that may be performed. These involve the removal of some liquid bone marrow (a bone marrow aspirate) and/or the removal of a 1 – 2 cm core of bone marrow tissue in one piece (a bone marrow biopsy). These samples can help to determine the percentage of amyloid producing plasma cells, and when tested in the lab they can assist in identifying whether the abnormal plasma cells are producing kappa or lambda light chains.

Organ Biopsy

If amyloidosis is still suspected but biopsies of the bone marrow, fat pad, lip or skin sites turn up negative, then a surgical biopsy of the organ that is indicating symptoms should be performed and sent to a lab. Biopsy samples may be taken from the:

Liver Kidney Nerve Heart Gut (stomach or intestines).

If any biopsy result shows a positive diagnosis for amyloidosis, then it is essential to also determine the accurate type of amyloid protein that is involved. In this case, the type of AL amyloidosis must be confirmed, showing a bone marrow disorder with light chain involvement, also known as a “plasma cell dyscrasia.”
Treatment for AL amyloidosis is tailored to the patient with their individual health in mind. The type of treatment is based upon disease progression and seriousness of the patient’s organ, tissue, and nerve involvement.

Today’s treatment plans are two-fold:

Supportive treatment – treating your symptoms and organ damage; and, Source treatment – slowing down, or stopping, the overproduction of amyloid at the source of the disease.

The doctor will need to prescribe the supportive treatment that the patient needs as well as source treatment for the disease itself.

Supportive Treatment

Supportive treatment is helpful for various symptoms, including cardiac and kidney problems, and can change the quality of life for many people.

For example, gastrointestinal dysfunction may require treatment for symptoms that include poor nutritional health, diarrhea or constipation, and nausea or vomiting. Doctors can prescribe medications to help with these symptoms to lessen the pain and the symptom itself.

Management of heart problems, heart failure, and kidney dialysis can make a significant improvement in a patient’s quality of life.  Treatment for heart and kidney failure in amyloidosis is different from organ problems due to other diseases.  It is important for a patient to consult with specialists that are aware of what medications are, and are not, safe for amyloidosis patients.

Reversing any damage to the organs and other parts of the body is difficult to achieve. If treatment begins during the early onset of clinical symptoms, the overall success rate is higher, so early detection is essential.

Source Treatment

The U.S. Food and Drug Administration (FDA) has approved the use of DARZALEX FASPRO® (daratumumab and hyaluronidase-fihj), a subcutaneous formulation of daratumumab, in combination with bortezomib, cyclophosphamide, and dexamethasone (D-VCd) for the treatment of adult patients with newly diagnosed light chain (AL) amyloidosis.

Stem Cell Transplant

In the United States, a stem cell transplant (SCT) is often the preferred therapy, as it can provide long-term control of the underlying disease. However, only a minority of AL patients are eligible for this. For the majority of AL amyloidosis patients, and in many other countries outside the U.S., other chemotherapy-based treatments are considered.  These treatment regimens are tailored for each patient and based upon the patients’ organ function, symptoms, and preferences.

Combination Therapy

Patients with AL amyloidosis have benefited from the recent development of new drugs for myeloma, many of which work effectively on the plasma cells that cause AL amyloidosis.  Many drug combinations are more effective than single drugs in attacking the abnormal plasma cells and the dosage is tailored to each individual patient, to enable the best course of treatment and possible outcome.  Categories of drugs that may be useful include:

Traditional chemotherapy drugs:

Melphalan, Cyclophosphamide (Cytoxan™), Bendamustine (Treanda™)

Drugs called “proteasome inhibitors”: Bortezomib (Velcade™), MLN9708 (Ixazomib™), Carfilzomib (Kyprolis™)

Drugs called “immunomodulators”: Thalidomide (Thalidomid™), Lenalidomide (Revlimid™), Pomalidomide (Pomalyst™).

Note that some of these drugs are still considered investigational for AL amyloidosis, and should not be used outside of a sponsored clinical trial. Also, most of them are given with a steroid such as dexamethasone, which seems to increase their effectiveness.