Amyloidosis

Diagnosis

Further organ damage can be avoided with early diagnosis. Due to the wide variations in treatment depending on the individual illness, precise diagnosis is important. Since the signs and symptoms of amyloidosis can resemble those of more widespread illnesses, it is frequently disregarded.

• Imaging tests: Images of the amyloidosis-affected organs may show:
  • Echocardiogram: The heart’s functionality can be visualized using this technology by using sound waves to produce moving pictures. Furthermore, it may reveal heart damage that is unique to a given form of amyloidosis.
  • Magnetic resonance imaging (MRI): MRI produces finely detailed images of organs and tissues using radio waves and a powerful magnetic field. These can be used to examine the heart’s structure and function.
  • Nuclear imaging: Tiny doses of radioactive material (tracers) are injected into a vein during this test. This may show signs of early cardiac damage brought on by some kinds of amyloidosis. Additionally, it may help in the classification of various amyloidosis, which can influence treatment choices.
• Laboratory tests: Analysis of blood and urine can be conducted to detect abnormal protein levels, which may serve as an indicator of amyloidosis. Additionally, individuals displaying specific symptoms may require tests to assess thyroid and kidney function.
• Biopsy: Amyloidosis can be diagnosed by examining a tissue sample, which can be obtained from either the subcutaneous fat in the abdomen or the bone marrow. In certain cases, a biopsy of an affected organ like the liver or kidney may be necessary. The collected tissue is then subjected to testing to determine the specific type of amyloid present.

Treatment

Amyloidosis has no known cure. Treatment, however, can help control the symptoms and amyloid protein production. Treating the underlying condition may be useful if the amyloidosis was caused by another illness, such as rheumatoid arthritis or tuberculosis. Other typical treatments for various forms of amyloidosis may consist of:

• Heart medications: Blood thinners may be necessary to lower the risk of clots if the heart is affected. Additionally, the patient might need medication to regulate their heart rate. Drugs that make people urinate more frequently can lessen the stress on their kidneys and heart.
• Chemotherapy: In AL amyloidosis, several cancer medications are utilized to prevent the development of abnormal cells that create the amyloid-forming protein.
• Targeted therapies: Drugs like patisiran (Onpattro) and inotersen (Tegsedi) can obstruct the signals given by defective genes that produce amyloid in certain kinds of amyloidosis. Other medications, including tafamidis (Vyndamax, Vyndaqel), and diflunisal, can stabilize blood-borne protein fragments and stop them from developing into amyloid deposits.
• Dialysis: The patient might need to begin dialysis if amyloidosis has damaged their kidneys. In this procedure, wastes, salts, and fluid are routinely removed from their blood using a machine.
• Surgical procedures:
  • Autologous blood stem cell transplant: This method involves obtaining the patient’s own stem cells from their blood through a vein and temporarily preserving them while they get high-dose chemotherapy. Afterward, a vein is used for transporting the stem cells back to the body. People with less advanced disease and unsignificant heart damage are the best candidates for this treatment.
  • Organ transplant: The heart or kidneys may need to be surgically replaced if amyloid deposits have severely affected them. A liver transplant might inhibit the creation of some amyloid forms as the liver is where they are sometimes produced.