ACE INHIBITORS: Angiotensin-converting enzyme (ACE) inhibitors
Heart medications that widen, or dilate blood vessels. This increases the amount of blood the heart pumps and lowers blood pressure.
ADRENAL GLANDS: Also known as suprarenal glands are endocrine glands
They produce a variety of hormones including adrenaline, the steroid aldosterone and cortisol.
A simple water- soluble protein. Albumin helps to keep protein in the blood stream. Low albumin may cause fluid build-up in the tissues especially in hands and feet.
One kind enzyme found in your body. Enzymes are proteins that help chemical reactions happen. For instance, they can break big molecules down into smaller parts, or they can help smaller molecules join together to form bigger structures.
ALLOGENEIC STEM CELL TRANSPLANT
A procedure in which stem cells are collected from a compatible donor, stored and given to a patient following high dose of chemotherapy.
A therapy used instead of conventional treatment. These treatments have not undergone any clinical trials or scientific studies to show that they are effective in treating amyloidosis.
An abnormal insoluble protein which deposits in the organs and tissues of the body altering their function.
A general term for a group of clinical disorders in which an abnormal protein is produced and deposits in organs and tissues of the body causing organ damage and failure if not treated. These diseases are not cancers.
A condition in which the number of red blood cells is below the normal level. This can lead to weakness and tiredness and shortness of breath.
A substance that is given to temporarily take away pain while a procedure is performed. A local anaesthetic numbs the part of the body where pain would be felt. A general anaesthetic renders the patient temporally unconscious.
A hormone protein which causes the blood vessels to become narrower. It helps to maintain blood pressure.
A type of drug used to prevent or treat an infection caused by bacteria.
Proteins found in the blood system produced by specialized white blood cells which are part of the immune system (Plasma cells). Their function is to bind to substances of the body that are recognized as foreign such as bacteria and viruses, enabling other cells of the immune system to remove them.
A type of drug used to minimize or prevent nausea and vomiting.
A procedure in which a machine collects and separates stem cells from a patient’s blood, returning the remainder of the blood components to the body.
A disturbance of rhythm in the heart beat.
ATTR amyloidosis is a form of systemic amyloidosis caused by amyloid deposits made up of a protein called transthyretin (TTR).
A procedure by which stem cells are collected from the patient, stored and returned to the patient following high dose chemotherapy. This procedure does not involve tissue matching and is the usual procedure used in highly selected AL amyloidosis patients undergoing a stem cell transplant.
Occurs when the nerves that control bodily function are damaged. Autonomic neuropathy can affect temperature control, digestion, bladder function and sexual function.
Any chromosome other than a sex chromosome.
BENCE JONES PROTEIN
A Bence Jones protein is an immunoglobulin light chain filtered from the blood by the kidney and found in the urine.
Also known as beta-adrenergic blocking agents, are medications that reduce blood pressure.
A substance or object that can be broken down by a biological agent.
Is a measurable indicator of some biological state or condition.
The removal of sample of tissue from the body for diagnostic purposes.
The splitting of a light ray, generally by a crystal, into two components that travel at different velocities and are polarized to each other.
Often referred to as a full blood count or complete blood count. Most commonly ordered clinical laboratory test. Basic evaluation of the red cells, white cells and platelets suspended in the liquid part of the blood (plasma).
Blood pressure (BP) refers to the pressure created in the arteries by the blood as the heart contracts and relaxes. Two numbers record the measurement.
- Systolic pressure is highest and is measured after the heart contracts.
- Diastolic pressure is lowest and is measured when the heart relaxes.
Blood pressure varies between individuals and is affected during normal exercise and abnormal situations such as disease of the arteries.
Also known as serum proteins are found in the blood plasma.
Soft sponge like material inside the bones where the platelets and red and white blood cells are produced.
BONE MARROW BIOPSY
Involves inserting a needle into the bone (usually the back of the pelvic bone) under a local anaesthetic and perhaps light sedation to take a sample of bone marrow from the inside of the bone to establish the presence of abnormal plasma cells.
BONE SCINTIGRAPHY. DPD
Bone scintigraphy is a nuclear imaging technique of the bone. Bone scintigraphy with bone-seeking radiopharmaceuticals has been shown to detect myocardial amyloid deposits, in particular in patients with ATTR.
A proteasome inhibitor which is used in the treatment of AL amyloidosis.
A disease that causes localized irreversible dilation of part of the branches of the windpipe in the lungs.
C-REACTIVE PROTEIN (CRP)
A plasma protein that rises in the blood when there is inflammation from certain conditions.
Carfilzomib is a proteasome inhibitor shown to be useful in treating patients with pretreated AL amyloidosis.
CALCIUM CHANNEL BLOCKERS
Drugs that block the entry of calcium into the muscles of the heart and arteries.
Cancer is a disease of the body’s basic building blocks, the cells. Cancer occurs when abnormal cells grow in an uncontrolled way. These abnormal cells can damage or invade the surrounding tissues, or spread to other parts of the body, causing further damage.
A doctor who specializes in the study or treatment of heart diseases and heart abnormalities.
A serious condition in which the heart doesn’t pump as well as it should and becomes weak. It can lead to heart failure and valve problems.
Cells are the basic unit of life. They are the smallest known unit that performs all of life’s functions.
The treatment of disease by the use of chemical substances.
Chemotherapy although usually thought of in the context of cancer treatment is also used in the treatment of AL amyloidosis, which is not a cancer.
Chemotherapy has been proven to work in this disease by destroying the light chain producing plasma cells in the bone marrow.
A fatty substance made by the body and found in some foods.
A research study of new or existing treatments in which patients and researchers find ways to improve health care. Trials may be designed to find better ways to detect, prevent, diagnose or treat a condition or answer specific scientific questions. Carefully conducted trials are the fastest and safest ways of to find treatments that work.
See section on clinical trials
AL amyloidosis is a plasma cell disorder which starts when a single plasma cell multiplies excessively. This group of genetically identical cells is called a clone.
A wide number of therapeutic disciplines used alongside conventional medicine.
COMPUTERIZED TOMOGRAPHY (CT or CAT SCAN)
A scanning procedure that uses X-rays and a computer to create detailed images of the body.
CONGO RED DYE
Congo red is a dye used for staining the biopsy as part of the process of diagnosing amyloidosis.
Can be spread between people.
A combination of the drugs Cyclophosphamide, Thalidomide and Dexamethasone used in the treatment of AL amyloidosis.
A waste product that is produced from the normal wear and tear on the body’s muscles. Creatinine is usually filtered through the kidneys and excreted in the urine. Everyone has creatinine in their blood stream.
The kidney’s ability to handle creatinine is referred to as creatinine clearance. Used to assess kidney function.
cTnT stands for serum cardiac Troponin-T which is a myocardial contractile protein which increases when the heart is damaged and is therefore a sensitive marker.
CR. Complete response to treatment in AL amyloidosis
Normal free light chain ratio and other tests that show no sign of active disease.
Nerves which emerge directly from the brain (including the brainstem), in contrast to spinal nerves which emerge from segments of the spinal cord.
A chemotherapy drug which interferes with the way rapidly dividing cells such as abnormal plasma cells work, with the aim of slowing down or stopping the production of amyloid.
A monoclonal antibody which binds to CD38 and shows efficacy in the treatment of AL amyloidosis.
A synthetic steroid which acts like a naturally occurring hormone in the body. It is not an anabolic steroid used illegally in sport. Dexamethasone can be used alone in the treatment of AL amyloidosis but is often given with chemotherapy or novel drugs which have different but complimentary mechanisms of action.
A person who has diabetes.
A chronic disease associated with abnormally high levels of glucose (blood sugars) in the blood either because their insulin production is inadequate or because the body’s cells do not respond to insulin or both.
A procedure to remove waste products from the blood, used when the kidneys have stopped working properly.
The frequent passing of watery faeces.
DIFFERENCE FREE LIGHT CHAINS (DFLC)
One way of reporting the results of the free light chain assay is by a measurement which calculates the difference between the amounts of normal and abnormal light chains in the blood. This measurement can be used to monitor response to treatment.
A drug to increase the production of urine by reducing the loss of salt and water from the body. Sometimes used during chemotherapy to assist in the excretion of chemotherapy drugs.
A complex molecule that contains all the information necessary to build and maintain an organism.
Genetic tests are performed on a sample of blood hair or skin. The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorder.
The organ most affected by the amyloid deposits.
A broad-spectrum tetracycline antibiotic.
DPD scan or Nuclear bone scintigraphy
A DPD scan is a “bone seeking” tracer which is injected into the bloodstream where it seeks out the bones, especially if there is an abnormality. This tracer has also been shown to seek the amyloid deposits in the heart.
- DPD scanning is now used in diagnosing and typing amyloidosis.
- In ATTR there is good correlation between the amount of DPD taken up in the heart and the size of the amyloid deposits.
- DPD scan can be used in asymptomatic cardiac ATTR to detect very early disease.
- DPD scan is not so useful in diagnosing AL cardiac disease as the amyloid deposits in the heart do not correlate with the amount of uptake in the DPD scan.
A term used to describe a health problem in which the muscles of the digestive system do not work normally. This can result in a change in the speed, strength or coordination of the muscles of the esophagus, stomach, small intestine and/or the large intestine.
The amount of blood the heart pumps out each time it beats.
A test to detect and record the electrical impulses that the heart uses to make it beat.
A protein that speeds up chemical reaction in the body.
Occurring outside the cell.
A feeling of extreme tiredness, lethargy and exhaustion. May be caused by the disease or the treatment. May be made worse by poor nutrition, anaemia, pain or stress. Fatigue is common in amyloidosis.
The abnormal protein fibers which form the amyloid deposits.
FREE LIGHT CHAIN Assay
See Serum Free Light Chains
A physician who specializes in diseases of the digestive system, also called the gastrointestinal (GI) tract.
The stomach and intestines make up the gastrointestinal tract which is part of the digestive system. This also includes the salivary glands, mouth, esophagus, liver, pancreas, gallbladder and rectum
GELSOLIN AMYLOIDOSIS (AGel)
Gelsolin amyloidosis or Finnish Type, is a hereditary condition characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin.
See Geoff Phillips story
A gene is the part of the cell in a living being which controls physical characteristics, growth and development.
A gene mutation or variant is a permanent alteration in the DNA sequence that makes up the gene causing the sequence to differ from that found in most people.
The study of a person’s DNA in order to identify genetic differences or susceptibility to a particular disease. Genetic testing can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or handing on the disorder.
Genetic testing – Should I have it done and where do I go for advice and the test?
A medical doctor who applies specialized knowledge to treat patients with blood conditions.
HAEMATOLOGICAL RESPONSE TO TREATMENT
See CR, VGPR, PR
Haemodialysis uses a special filter called a dialyzer to remove wastes and extra fluid from the blood.
An abnormal enlargement of the liver.
A descriptive term for conditions capable of being transmitted from parent to offspring through the genes.
A Hickman line is a central venous catheter most often used for the administration of chemotherapy or other medications as well as for the withdrawal of blood for analysis. Some types are used mainly for apheresis or dialysis.
A chemical substance produced in the body that controls and regulates the activity of certain cells or organs.
The complex group of cells and organs that protect the body against infection and disease.
Proteins found in the blood produced by the cells of the immune system called plasma cells. Their function is to bind to substances in the body that are recognized as foreign, such as bacteria and viruses (known as antigens), enabling other cells of the immune. system to destroy and remove them.
An immunologist is an expert in immunology, which is a branch of biomedical science that deals with the immune system.
IMMUNOMODULATORY DRUGS (IMiD)
A type of drug used to act on the body’s immune system.
A local reaction that shows up by swelling, heat, pain, and redness.
A drip of drugs or fluids into a vein over a set period of time.
Very difficult to dissolve.
A proteasome inhibitor sometimes used in the treatment of AL amyloidosis.
A fibrous protein forming the main structural constituent of hair, feathers, hoofs, claws, horns, etc.
LATTICE CORNEAL DYSTROPHY
Lattice Corneal Dystrophy is an eye disorder that affects the clear outer covering of the eye called the cornea. It is seen in the rare inherited Finnish type amyloidosis
An immunomodulatory drug which is used in the treatment of AL amyloidosis. given orally.
A light chain is a component of a protein in the blood called a monoclonal immunoglobulin. There are two types of light chain, kappa and lambda.
LIGHT CHAIN AMYLOIDOSIS
Light chain amyloidosis (AL) is characterized by a clonal population of plasma cells in the bone marrow that produce monoclonal light chains of kappa or lambda type. Most patients with AL amyloidosis have lambda light chains.
One part of the body may be affected
Functions as a bacterial agent. Lysome is an enzyme present in saliva, egg white and many animal fluids.
Enlargement of the tongue.
MAGNETIC RESONANCE IMAGING (MRI)
A scan that uses a powerful magnet to image the organs and tissues of the body.
MAYO STAGING SYSTEM FOR AL CARDIAC INVOLVEMENT
The prognosis for patients with light chain (AL) amyloidosis is related to the extent of cardiac involvement.
The Mayo staging system for AL amyloidosis is based on measurements of the cardiac biomarkers N-terminal pro-brain natriuretic peptide (NT-proBNP) and troponins TnT and TnI and the difference between involved and uninvolved free light chains (dFLC).
See also the Australian Guidelines for the management of AL amyloidosis
A chemotherapy drug.
MONOCLONAL ANTIBODY DRUG
A type of synthetic drug that mimics the action of antibodies.
MONOCLONAL GAMMOPATHY (MGUS)
MGUS usually causes no problems but sometimes it can progress over years to other disorders.
Involving or affecting more than one bodily system.
MYELOMA (MULTIPLE MYELOMA)
A cancer of the bone marrow caused by abnormal plasma cells which results in bone damage, low blood cell counts, increased infections and kidney damage. Up to 20% to 25% of patients with myeloma will have or will develop AL amyloidosis. A very small percentage of patients with AL amyloidosis will develop myeloma.
Is a test which measures NT-proBNP levels and shows whether a patient has heart damage or failure.
Is an abnormal condition where the kidney filtering system does not function properly causing fluid retention which results in large amounts of protein in the urine.
A procedure in which a small sample of a nerve is removed and examined in a laboratory. Usually the biopsy is taken from the ankle, forearm or along a rib under a general anaesthetic.
NERVE CONDUCTION TEST
Is a medical diagnostic test measuring how fast an electrical impulse moved through the nerves and identifies any nerve damage.
A medical doctor who specializes in the treatment of the nervous system.
Neuropathic (nerve) pain is caused by damage, injury or dysfunction of nerves due to trauma, surgery, disease or chemotherapy.
A condition in which there aren’t enough neutrophils. (a type of white blood cell). This leads to increased risk of serious bacterial infections. There are many causes of neutropenia. A common cause is chemotherapy treatment. Neutropenia is diagnosed by a blood test. The treatment depends on the cause of neutropenia and how severe it is.
The occipital lobe is one of four lobes in the brain. It controls one’s ability to see things. An occipital stroke is a stroke that occurs in the occipital lobe.
If you’re having an occipital stroke, your symptoms will be different than symptoms for other types of strokes.
The retention of abnormal amounts of fluid in the body which causes swelling in the tissues.
A doctor who is trained to practice oncology, a branch of medicine that deals with the prevention, diagnosis, and treatment of cancer.
Palliative care is person and family-centered care provided for a person with an active, progressive, advanced disease, who has little or no prospect of cure and who is expected to die. The primary goal of care is to optimize quality of life by treating symptoms and providing emotional support.
An abnormal antibody (immunoglobulin) often produced in AL amyloidosis. Measurements of paraprotein in the blood can be used to diagnose and monitor the disease.
PARTIAL RESPONSE (PR)
A term used when assessing the effect of treatment in AL amyloidosis. A PR is said to be reached when there is a 50% reduction in FLC concentration. See Clinical Practice guidelines for the management of systemic AL amyloidosis.
PERIORBITAL ECCHYMOSIS (OR RACCOON EYES)
Periorbital ecchymosis in AL amyloidosis often referred to as “raccoon eyes” is caused by vascular infiltration of amyloid fibrils in periorbital blood vessels.
Damage to the nerves that make up the peripheral nervous system causing pain, tingling and altered sensation.
Peritoneal dialysis uses the lining of the abdominal cavity—the space in the body that holds organs such as the stomach, intestines, and liver—to filter the blood.
A treatment line used for long-term intravenous (IV) antibiotics, nutrition, medications, chemotherapy and for taking blood. A long, thin, soft catheter (tube) is inserted into a vein in the upper arm. This line can stay in place for weeks or months.
A type of white blood cell that produce antibodies (immunoglobulin) to fight infection.
A term used to describe a period of time when the amyloid level is relatively stable.
A small colourless disc-shaped cell fragment without a nucleus, found in large numbers in blood and involved in blood clotting.
POLYNEUROPATHY: peripheral neuropathy.
Occurs when multiple peripheral nerves become damaged. This is also commonly called peripheral neuropathy.
Is an immunomodulatory agent which is effective in the treatment of patients with relapsed myeloma and AL amyloidosis. It is a derivative of the drug thalidomide.
A substance, cell, or cellular component from which another substance, cell, or cellular component is formed.
The likely course of a medical condition.
Proteins are required for the structure, function, and regulation of the body’s cells, tissues, and organs.
The presence of abnormal quantities of protein in the urine, which may indicate damage to the kidneys.
A cellular structure which is used in the removal, breakdown and recycling of damaged proteins or those no longer needed by the cell.
A drug that interferes with the normal functioning of part of the cell called the proteasome. Abnormal plasma cells rely more heavily on proteasomes than normal healthy cells. Proteasome inhibitors therefore cause abnormal cells to die while leaving healthy cells less affected.
A rare medical condition in which symptoms resemble those caused by a blockage, or obstruction, of the intestines, also called the bowel. However, on examination no blockage exists.
QUALITY OF LIFE
A term that refers to a person’s level of health, comfort and happiness.
It is a measure of a sense of well being.
RACCOON EYES (OR PERIORBITAL ECCHYMOSIS)
Periorbital ecchymosis in AL amyloidosis often referred to as “raccoon eyes” is caused by vascular infiltration of amyloid fibrils in periorbital blood vessels.
RED BLOOD CELL
A type of blood cell, made in the bone marrow and found in the blood. Red blood cells contain a protein called haemoglobin which carries oxygen from the lungs to all parts of the body.
Disease that has failed to respond or has stopped responding to treatment.
The point where the disease returns or becomes more active after a period of remission or plateau (stable condition).
The period following treatment when abnormal plasma cells and amyloid are no longer detectable and there are no clinical symptoms of AL amyloidosis.
When the kidneys lose the ability to function properly.
Restrictive cardiomyopathy occurs when the walls of the lower chambers of the heart (ventricles) are too rigid to expand as they fill with blood. However, the pumping ability systolic function of the ventricles may be normal but the diastolic function (ability of the heart to fill with blood) is abnormal. This makes it harder for the ventricles to fill with blood and over time the heart loses the ability to pump blood properly, leading to heart failure.
SAP SCAN, (SERUM AMYLOID P SCAN)
A scanning procedure that shows the distribution and amount of amyloid in the body. This Scan is only available at the National Amyloidosis Centre in London.
SERUM FREE LIGHT CHAIN ASSAY
The free light chain assay is a blood test which can detect monoclonal light chains in almost all patients with AL amyloidosis.
It is used at diagnosis and to monitor treatment.
It recognizes the kappa and lambda free light chains that cause amyloidosis.
Regular free light chains tests are used to follow treatment response.
The most useful test is called the DfLC which measures the difference between the involved and uninvolved FLC.
Reduction in the serum free light chains correlates with reduction in the production of amyloid.
The FLC measurement usually drops before there is any measureable improvement in the affected organ function.
Down load Myeloma UK info sheet.
Understanding FLC results
In AL amyloidosis the Free light chain results are used to help with diagnosis and to monitor treatment.
When AL amyloidosis is first diagnosed, the free light chain ratio is checked:
If the abnormal plasma cells are found to be secreting kappa chains, the kappa/ lambda ratio will be checked.
If the abnormal plasma cells are found to be secreting lambda chains, the lambda/kappa ratio will be checked.
When FLC tests are used to follow the patient’s response to chemotherapy, the most useful test is called the dFLC (difference between involved and uninvolved FLCs).
To measure this, the concentration of the normal light chain type is subtracted from the concentration of the abnormal light chain type.
For example: If a patient with AL amyloidosis has amyloid due to abnormal production of kappa chains, dFLC concentration is kappa chain concentration minus lambda.
Undesired effects caused by a drug or treatment. For example, fatigue or nausea.
SPECT SCAN: or single-photon emission computerized tomography (SPECT)
A type of nuclear imaging test which uses a radioactive substance and a special camera to create 3-D pictures. A SPECT scan produces images showing how the organs work. For example, how the blood flows in the heart.
The type of cell from which all cells develop. Haematopoietic stem cells give rise to red blood cells, white blood cells and platelets. Haematopoietic stem cells are normally located in the bone marrow and can be harvested from the blood for transplant.
STEM CELL TRANSPLANT
A procedure by which healthy stem cells in AL amyloidosis usually collected from the patient are infused into the body. This allows the bone marrow to recover and renew its blood-forming capacity following the administration of high-dose chemotherapy. (See section on stem cell transplant.
Download: Myeloma UK information
A group of hormonal structures usually produced by the body. Synthetic cortico-steroids such as prednisone, dexamethasone and methylprednisolone are very important in the treatment of amyloidosis.
The excretion of abnormal quantities of fat with the faces owing to reduced absorption of fat by the intestine.
Under the skin
Most types of amyloidosis are described as systemic meaning the amyloid protein can deposit in any part of the body except the brain.
An immunomodulatory drug. Meaning it is a drug which modifies the immune system which protects the body against infection and disease. In the treatment of AL amyloidosis thalidomide may be given alone or in combination with other chemotherapy or novel drugs.
The thyroid gland is located in the lower part of the neck. It makes and stores hormones that help regulate a number of bodily functions
A protein in the blood made by the liver, that transports the thyroid hormone thyroxine and retinol binding protein in the blood.
A family of proteins found in skeletal and heart (cardiac) muscle fibers that produce muscular contractions. Troponin tests measure the level of cardiac-specific troponin in the blood to help detect heart injury. NT-proBNP and troponin measures can also carry prognostic significance in cardiac amyloidosis.
A raised level of urea and other nitrogenous waste compounds in the blood that are normally eliminated by the kidneys.
Urinalysis involves checking the appearance, concentration and content of urine. May be used in diagnosing organ damage in amyloidosis deciding treatments to preserving organs and checking response to treatment.
A form or version of something that differs in some respect from the other forms of the same thing.
A term used in describing effect of treatment in AL amyloidosis. Free Light chain below 40mg/L
Is an infective agent that typically consists of a nucleic acid molecule in a protein coat and is too small to be seen by light microscopy. It cannot grow or reproduce outside a living cell.
WHITE BLOOD CELLS
White blood cells, also called leukocytes or white corpuscles are made in the bone marrow and found in the blood and lymph tissue. They are part of the body’s immune system and defend the body against infection and disease.