Amyloidosis refers to a pathological accumulation of proteins in the spaces between cells. Amyloidosis itself is not a disease; rather, various diseases are caused by it. Amyloidosis can only be detected by cytological examination of a tissue sample. It affects almost exclusively older patients around the age of 65. Amyloidosis is only rudimentarily treatable and is fatal about 24 months after its onset.
What is amyloidosis?
Amyloidosis refers to an abnormal accumulation of proteins in the spaces between cells, such as lysozyme. Amyloidosis is a disorder of protein metabolism. A certain protein (e.g. immunoglobulin, cystatin or lysozyme) cannot be broken down or is broken down insufficiently in a patient suffering from amyloidosis. As a result, the protein accumulates in the intercellular spaces of various organs – such as the liver, kidney or heart – and impairs organ activity. Amyloidosis becomes visible in the form of various diseases that the patient develops. These include, for example, an abnormally enlarged liver, an inflamed heart muscle, a non-specific renal insufficiency or a cancer of the bone marrow (multiple myeloma). Sometimes an accumulation of proteins occurs in several organs at the same time, so that several organs become diseased or fail (multiple organ failure).
Causes
The causes of amyloidosis lie in a disorder of protein metabolism. Proteins are usually present in the blood serum in a dissolved form. If the protein is not dissolved or broken down, it is present in too high a concentration. If it cannot be excreted, the protein accumulates in the intercellular spaces. There it is attacked by enzymes; as a result, long amino acid chains are formed, which become visible as small fibers under the microscope. The fibers cannot be dissolved and degraded. As a result, the organ is destroyed to the point of complete functional incapacity. To date, it has not been possible to determine which patients tend to develop amyloidosis; according to current research, a genetic predisposition is assumed.
Symptoms, complaints, and signs
In the worst case, amyloidosis can lead to the death of the affected person. The complaints are also relatively severe in this case and should be treated at an early stage for this reason. As a rule, patients suffer from severe cardiac insufficiency. The result is permanent fatigue and exhaustion. The patient’s ability to cope with stress is also greatly reduced by amyloidosis. As the disease progresses, it leads to disturbances in the heart rhythm, and the heartbeat itself can also change. Even light activities can seem very strenuous for the patient, so that there can be restrictions in everyday life. Due to these limitations, many affected persons also suffer from depression or other psychological upsets. Amyloidosis can also lead to dementia. In this case, the affected persons are often dependent on the help of other people in their everyday life and the quality of life decreases significantly. The stiffening of the heart muscles also reduces the life expectancy of the affected person. The risk of a heart attack or stroke also increases significantly due to amyloidosis. Pain in the area of the heart may also cause a panic attack or fear of death.
Diagnosis and course
A diagnosis can only be made by means of a cytological examination. If typical secondary diseases – such as an enlarged liver, cardiac arrhythmias, or renal insufficiency – have occurred, the physician should consider amyloidosis and perform an appropriate laboratory examination. For this purpose, a tissue sample (biopsy) is taken from the affected organ and then examined microscopically. Amyloidosis is visible on the basis of the microscopically visible thread-like structures between the cells. The tissue sample is stained with the dye Congo red. Under polarized light, a greenish discoloration of the intercellular spaces is visible. Information about the distribution of amyloidosis can be obtained by scintigraphy. In a scintigraphy, a radioactive substance is given that is able to bind to the amyloidosis and make it visible. Amyloidosis itself goes unnoticed by the patient.However, as amyloidosis progresses – the deposits spread relatively quickly – there are clearly visible sequelae that massively reduce the quality of life. Depending on the course, organ insufficiency or organ failure occurs. Amyloidosis is fatal – about 24 months after the first occurrence, one or more organs are no longer functional.
Complications
Rarely occurring, amyloidosis massively interferes with and alters the body’s protein balance. As a result of the insoluble deposit, the vessels, nerves, and bones are attacked. The antibodies can no longer break down. If the symptom occurs, it can lead to chronic inflammatory episodes as a systemic variant as well as assume life-threatening proportions. Amyloidosis is not curable, but can be treated specifically. Early diagnosis helps to keep the risk of complications low. This spares the patient as much as possible from a possible deterioration in the function of organs and nerves. Amyloidosis occurs insidiously. If it shows organ-related symptoms, organ function may already be so impaired that it requires transplantation. To make the diagnosis effective, either the screening method or a tissue sample is considered. This is followed by typing of the symptom. Due to the richness of variation in the disease, this process must be carried out very carefully. Only when the defective protein has been identified is a treatment plan put in place. Chemotherapy in the context of medication has proven to be a successful treatment method. Under certain circumstances, the patient may be affected by fatigue, exhaustion, and stomach upset due to the administration of medication. Therefore, this form of therapy is strictly recorded under medical supervision. It is important as a patient to maintain a diet as low in salt as possible to limit further secondary complications.
When should you go to the doctor?
Amyloidosis always requires medical treatment. Therefore, if obvious signs of the disease appear, a doctor must be consulted quickly. He or she can then determine whether amyloidosis is present and initiate appropriate treatment. Patients with chronic infections and inflammations such as arthritis or tuberculosis, as well as patients on long-term dialysis and certain forms of bone marrow cancer (e.g., multiple myeloma), are particularly at risk and should immediately consult the appropriate physician if amyloidosis is suspected. This is especially true for older patients over the age of 40. Should they observe an increasing feeling of weakness and weight loss, a visit to the doctor is necessary. Since the organism is already weakened by the underlying disease, amyloidosis must be treated immediately. If cases of inherited amyloidosis are known in the family, medical advice is recommended at the first signs of the disease. At the latest, if skin changes such as bruising and swelling, cardiac arrhythmias and difficulty swallowing occur, a doctor must be consulted with amyloidosis.
Treatment and therapy
Amyloidosis can only be treated to a limited extent. However, some therapies are available to treat the sequelae, which can slow the progression. If the heart is involved, the patient is advised to follow a low-salt diet, as is the case if the kidneys are involved. In addition, diuretics may be given. Diuretics help the body flush out water and thus proteins. The use of a pacemaker may be useful against cardiac arrhythmias that occur, and dialysis is indicated if kidney activity is massively impaired to below 15%.
Outlook and prognosis
The further course of amyloidosis usually depends on the underlying disease and its treatment, so a general course of the disease cannot be predicted in most cases. As a rule, however, amyloidosis leads to severe symptoms of the heart, resulting in cardiac insufficiency and disturbances of the heart rhythm. As a result, the patient’s ability to cope with stress also decreases significantly, and ordinary activities in everyday life or the performance of sports is no longer possible as a result of this disease. The quality of life is significantly reduced by this disease. Likewise, the development of dementia can also occur, which significantly restricts the patient’s everyday life. The patient may also be dependent on the help of other people in order to continue to cope with everyday life.Renal insufficiency may also occur, making the patient dependent on transplantation or dialysis. Direct treatment of amyloidosis is usually not possible. A special diet can limit and reduce most of the symptoms. It is possible, however, that the patient’s life expectancy will be reduced. In some cases, a pacemaker may also be installed.
Prevention
Amyloidosis cannot be prevented, according to current research. In cases of familial amyloidosis, lifelong use of colchicine may delay an onset of amyloidosis. Sometimes chemotherapy with melphalan followed by blood stem cell therapy can delay amyloidosis. When amyloidosis is suspected, if it can be assumed that the heart and kidneys will be affected, prophylactic attention can already be paid to maintaining a low-salt diet.
Follow-up
In amyloidosis, follow-up depends on the type and severity of the disease and the patient’s individual symptom picture. In all cases of amyloidosis, long-term follow-up with regular progress monitoring is necessary. In most cases, various organs are affected, as well as the endocrine system and soft tissue. A physician must examine all of these areas and, if necessary, consult other specialists, since new symptoms can sometimes occur that require further diagnosis. Follow-up care always includes regular medication adjustments. The patient usually has to take painkillers, anti-inflammatory drugs and other preparations, which have to be adjusted to the current course of the disease at intervals of a few weeks to months. If the course is positive, general measures such as the use of ACE inhibitors and diuretics can be gradually reduced. In the case of a severe course involving the kidneys, dialysis treatment must be continued permanently. Regular progress controls are particularly necessary after chemotherapy, as is the case with AL amyloidosis. Due to the many different manifestations of the disease, individual follow-up can only be determined by a physician. Affected individuals should consult with the appropriate medical professional at an early stage so that the therapy concept can be implemented effectively.
What you can do yourself
To date, amyloidosis cannot be treated causally. Self-help measures focus on lifestyle changes and the use of alternative remedies. Basically, the medication must be optimally adjusted. The patient should record any side effects and interactions and inform the doctor about them. Unusual symptoms should also be clarified before serious complications become apparent. If cardiac arrhythmias develop, the use of a pacemaker is indicated. Patients who experience noticeable symptoms are best advised to talk to their doctor and have a comprehensive cardiological examination. A proven natural remedy is green tea. The remedy prevents heart problems and also supports kidney activity. Accompanying this, the patient must take diuretics regularly to help the body flush out fluids and thus also proteins. Alternatively, homeopathic treatment is an option. As part of the therapy, the homeopath works out the individually suitable remedies and prescribes them with regard to the current state of health of the affected person. This allows the disease to be treated in a regressive manner by slowing down the disease process. Although a complete cure is unlikely through homeopathic treatment, alternative therapy can positively influence the course of the disease and ease the symptoms.