Amyloidosis
Imagine that your body is a clock, and inside a bit of rust begins to form. As that rust spreads, the gears in the clock must work harder and harder to turn. Unless the rust is removed, the build-up will eventually keep the gears from turning. Similarly, Amyloidosis prevents the organs in your body from working as they should. Being diagnosed with a rare disease such as Amyloidosis can be extremely scary, making the right physical care and strong emotional support essential.
What is Amyloidosis?
Amyloidosis is not a form of cancer, although its symptoms and treatments are extremely similar. Amyloidosis occurs when the body begins to make a protein differently than it did before and is no longer able to absorb that protein.2 As more of these wrong proteins are made, they begin to build up and create blockages that can keep important organs from working properly.
There are several types of Amyloidosis, each with its own cause. Here are the four most common types:
- Amyloid light-chain (AL) Amyloidosis: white blood cells in your bone marrow produce the mutated proteins affecting the heart, kidneys, liver or nervous system. Because this stems from bone marrow, doctors occasionally associate this with a cancer called Multiple Myeloma.3
- Amyloid A (AA) Amyloidosis: affects the liver (80% of cases) or kidneys4 when someone has a chronic infection or inflammatory disease, such as diabetes, Crohn’s disease, or tuberculosis.5
- Hereditary Amyloidosis: a specific type of gene mutation causes the body to print misfolded proteins.6 If you have this type, you carry the gene from birth, you may not experience any symptoms until adulthood, or even at all. However, you can pass it on to your children whether you have symptoms or not. This type affects a wide range of organs, but is common in the kidneys, liver and spleen, as well as the heart and nerves.
- Wild-type Amyloidosis is unusual because, unlike the others which have clear causes, there is no genetic or underlying health reason for it.7 Despite the body creating seemingly normal cells, build-up still occurs. Found mostly in men in their 70s, and most commonly affecting the heart, medical experts associate this type with old age.2
What are the symptoms of Amyloidosis?
Because these proteins build up over time, you may not feel symptoms right away. Also, since there are so many organs that Amyloidosis can affect, there are only a few universal symptoms that can signal doctors to its presence. These include:8
- Ankle or leg swelling
- Severe fatigue
- Unexplained weight loss
- Joint pain
- Rash around the eyes
In addition, each organ will have its own specific symptoms. For example, “foamy” urine is caused by protein build-up in the kidneys. Abdominal swelling could indicate an issue in the liver. Chest pains point to the heart. Carpal tunnel may mean the nervous system has been impacted. A thickened tongue can be caused by Amyloidosis in the digestive tract. And shortness of breath may implicate the lungs.8
There are a few test options your doctor may recommend. Blood and urine tests are common, however, depending on the symptoms, doctors may recommend testing a bone marrow sample, examining organ tissue, or conducting an ultrasound to see if there is any build-up.9
How common is Amyloidosis?
While there is not much data on the global rate, Amyloidosis is an extremely rare disease. Medical experts estimate the rate of cases ranges from 9.7 to 14 cases for every 1 million people per year.10
While anyone can develop Amyloidosis, symptoms for all forms generally occur in male patients, between the ages of 60 and 70. Those with chronic infectious diseases or inflammatory diseases, those who undergo dialysis treatments or have a family history of Amyloidosis are also at greater risk. Research has also found this blood disease is more common in people of African descent.11
Caring for those with Amyloidosis
The physical and emotional toll of this disease can seem insurmountable, making it even more important for loved ones to stay involved and present.12
Physically, Amyloidosis symptoms and treatments can be incredibly taxing. Chemotherapy and transplants are both long, uncomfortable processes with side effects that can be difficult to endure alone. Support from loved ones, even small gestures such as offering rides to treatments, or assisting with meals, can help those with this disease work through these difficult times.
Similarly, the diagnosis of any rare disease like this can be a substantial emotional weight to bear. Shock, anger and depression are normal emotions to experience, and may linger throughout the treatment process. As a loved one, offering up the emotional strength to endure, when those with this disease cannot find it within themselves, can make every bit of difference.
What to ask your doctor?
The list below includes example questions to help start a conversation with your health care provider. There may be other relevant questions based on your symptoms, stage, and medical history that are not listed here.
- What kind of Amyloidosis do I have?
- Are there lifestyle changes I can make to help with my treatment?
- How do I find out if I am a carrier if I have a family history of Amyloidosis?
- What is the preferred treatment option available to me given my type of this disease?
- I have Amyloidosis; can I test my children to see if they have it as well?
- What clinical trials are available for Amyloidosis treatments?
- How do I join an organ transplant list?
- How do I make myself more eligible for an organ transplant?
- What support services are available to me?
- Following treatment, what symptoms should I be looking for?
- ...
Glossary
- Amyloid: A deposit of abnormal proteins that damage or shut down organs.
- Transthyretin (TTR): A type of protein that can mutate and cause amyloids.
- Light Chains: Proteins made by white blood cells that can mutate and cause amyloids.
- Carpal Tunnel: Numbness and tingling in the hand and arm.
Patient advocacy groups and external sources
This website is developed exclusively by Janssen Pharmaceutica NV. Please note that the patient advocacy groups, and external sources listed below are an additional and independent source of information you might find useful. These groups and sources were not involved in the creation of this website and do not endorse its content in any way.
References
[1]
Myeloma UK. Infopack for carers of myeloma patients. Available at: http://www.myeloma.org.uk/wp-content/uploads/2018/03/Myeloma-UK-An-Infopack-for-carers-of-myeloma-patients.pdf. Last accessed April 2021.