The body can encounter a peculiar and rare condition in which, abnormal proteins within the body known as amyloid, get deposited in different bodily tissues and organs. These abnormal proteins have a tendency to become amino acids, but they gradually fold themselves and take a three dimensional structure. If these three dimensional and folded amyloids come together and start to perform different functions by themselves, they can stop the normal functions of the cells and tissues and organs. This condition is called Amyloidosis. Once the proteins start to club together, it becomes quite difficult to break them down. Amyloidosis is a very rare disease that occurs in only 1,500 to 2,500 people in the United States of America.
Definition of Amyloidosis:
When insoluble abnormal amyloid fibrils take the form of extracellular and/or intracellular deposition and alter the normal function of tissues, it is known as Amyloidosis.
Symptoms of Amyloidosis:
Depending on where the amyloid fibrils or proteins are being deposited, the symptoms may vary. The symptoms are usually very subtle and only the doctors can diagnose them. The general symptoms are:
- Clay coloured stool
- Weakness, weight loss and fatigue
- Change in the skin colour
- Swelling of tongue and shortness of breath can be one of the symptoms of Amyloidosis
- Weak hand grip and numbness of feet and legs is also another symptoms of Amyloidosis
- Joint pain.
However, if the amyloid proteins deposit on the walls of the heart muscle, it can cause irregular heartbeat. In cases of renal or kidney amyloidosis, kidney failure, puffiness around the eyes and high protein level in urine may occur. The gastrointestinal amyloidosis or deposition in the GI tract on the other hand can cause diarrhoea, stomach pain and loss of appetite. Amyloid neuropathy that occurs on the nerves and the spinal cord, can cause damage to nerves and as a consequence, create balance problems, urine and bowel controlling problem, blood pressure and sweating troubles may also occur.
Hence, clubbing the possible additional symptoms, it can well be said that the symptoms of Amyloidosis may also include:
- Irregular heart beat (occurring in more than 50% Amyloidosis patients)
- Kidney failure or disorder
- Bleeding of GI tract
- Enlarged liver and spleen
- Lung problems
- Bleeding troubles
- Nervous system disorder
- Endocrine gland and adrenal function disorder.
Causes of Amyloidosis:
The causes of this rare and severe condition called Amyloidosis are still unknown. In many of the cases, Amyloidosis is hereditary and is believed to occur due to genetic changes. However, it is also possible that the building up of these abnormal proteins is caused by the body's use of and reaction to oxygen and free radicals. The amyloid proteins have a tendency to develop only at places, where they had started depositing. Sometimes, Amyloidosis may occur and these abnormal proteins may start to develop as a consequence of some other diseases such as Ankylosing spondylitis, Chronic osteomyelitis, Hodgkin disease, Cystic fibrosis, Juvenile chronic arthritis, Rheumatoid arthritis, Systemic lupus erythematosus, Bronchiectasis, Tuberculosis, Multiple myeloma, Familial Mediterranean fever, Sjogren syndrome, Hairy cell leukemia, Reiter syndrome and Kidney dialysis.
Risk Factors for Amyloidosis:
As what causes Amyloidosis is still unclear, anybody can develop this disease. However, those who are at high risk of developing Amyloidosis are:
- Men with an age above 50 years as in most cases this disease has occurred in elders.
- More than 70% of Amyloidosis patients are men and hence, it can be defined that men are at higher risk of developing Amyloidosis.
- There are a few types of hereditary Amyloidosis and therefore, if someone in your family has had Amyloidosis in the past, you too are likely to develop this disease
- Those, who have diseases that affect the production of plasma cells that produce antibody in blood, are at higher risk for developing Amyloidosis. These diseases are multiple myeloma, benign monoclonal gammopathy, malignant lymphoma or Waldenström's macroglobulinemia.
- Those, who have had long term dialysis are also at high risk for developing Amyloidosis.
- Chronic infectious diseases such as inflammatory bowel disease, rheumatoid arthritis, ankylosing spondylitis or familial Mediterranean fever are also risk factors for patients affected with these diseases to develop Amyloidosis.
Although these are conditions that can increase the risk of this disease it cannot be rightly predicted, who will be affected and when.
Diagnosis of Amyloidosis:
Diagnosis of Amyloidosis is quite difficult as its symptoms are not specific, but general. Usually the patient is referred a blood, urine and bone marrow test. The blood test and the urine test will determine if the patient has amyloid proteins in the body or not. But it does not diagnose Amyloidosis.
Hence, when the doctor suspects the possibility of Amyloidosis, the diagnosis is done through biopsy test. In this process, a small sample is taken from the affected part, where inconsistency and diseased symptoms are seen. After that, the sample is diagnosed under microscope to check if there is any presence of the amyloid proteins. The test is done using some special stains.
Prognosis and Survival Period of Amyloidosis:
Although intensive care and treatment are provided in each case of this disease, in 80% cases Amyloidosis is fatal. As the patient suffering from Amyloidosis deteriorates in his or her health condition, the aggressive treatment procedure is reduced and the focus is given more on how the pain and suffering associated with Amyloidosis can be relieved. Most types of Amyloidosis are fatal and have a very poor prognosis, making the survival period only 1 to 2 years among patients suffering from Amyloidosis.
Treatment of Amyloidosis:
There is no fixed treatment procedure that can completely cure the patient from Amyloidosis. But in most cases, organ failures are resisted to prolong the life span among patients suffering from Amyloidosis. But despite much attempts, the treatment fails to increase the survival. As in most cases, the diagnosis of the damaged organ due to the deposition of these amyloid proteins is done quite after major damages have already occurred; there is not much that the doctors can do.
Chemotherapy for Treating Amyloidosis:
Just like the different cancers, where malignant cells grow constantly, in this disease also the production of the amyloid proteins is continuous. Hence, the chemotherapy is given to stop or at least reduce the production of such abnormal proteins.
Stem Cell Transplant to Treat Amyloidosis:
This is also used to remove the substance from the stem that can lead to the formation of these cells. This is a complex process that needs to be supported with the chemotherapy.
Drug Therapies to Treat Amyloidosis:
Drug therapies are not proper treatment procedures, but these are done in order to support the management of damaged organs in people suffering from Amyloidosis. The usual medicines that are given in this therapy are:
- Diuretics, for relieving swelling caused by fluid retention
- Metoclopramide for stomach emptying
- Anti-arrhythmics for controlling heart rhythm
- Antibiotics to control the bacterial infection
Apart from these, pain killers and blood thinning drugs are also given.
Self Help and Coping Tips with Amyloidosis:
As the trend of Amyloidosis is only deterioration, it is quite difficult to cope with the disease. However, with major changes in lifestyle and self help techniques, Amyloidosis can well be managed and you will be able to prolong your survival period.
As oxidation is one of the main reasons, why Amyloidosis occurs, consuming diet that is rich in antioxidants is very important. Through nutritional and dietary supplements, the harmful effects of amyloid proteins can be controlled.
Meat is an amyloid enhancing factor (AEF) and hence, should be consumed as minimum in quantity as possible.
- Taking 1,000 mg fish oil supplement capsule 1 to 2 times a day will help preventing these abnormal proteins or at least, does not let them cause rheumatoid arthritis and other chronic inflammatory conditions. It can also thin your blood. But consult with your doctor, whether you should take it or not, if you are already taking blood thinning drugs.
- Take foods that are rich in Vitamin C or Vitamin C supplements as it can prevent and break down the abnormal amyloid proteins.
- Diet should be such that it prevents heart attack and heart failure.
Not only these dietary plans, but the doctors would also give the patients a moderate exercise regime, depending on the weakness and strength of the patient. This will help them rebuild the strength that the pain and suffering has reduced. But along with these exercises, the patient must:
- Quit smoking completely
- Maintain a healthy weight, compatible to the diet recommended by the doctor or dietician.
Apart from these, the patient can also seek palliative care, where he or she will be assisted with emotional, spiritual as well as pain relieving care and support.