Amyloidosis is a rare condition affecting approximately 1 in every 100,000 people. It is caused by the overproduction of amyloid proteins. This then leads to a build-up in the tissue of various organs and systems throughout the body, including the liver, kidneys, heart, digestive system, and central nervous system, causing impaired function. Amyloidosis is classified into 4 main types depending on its cause, as follows:
- AL amyloidosis is the most common form and is caused by irregularities in the patient’s plasma cells. This results in the overproduction of immunoglobulin light chain proteins in the bone marrow, which affects various organs throughout the body, including the liver, kidneys, heart, intestines, and nervous system.
- ATTR amyloidosis can be split into two sub-types, as follows:
- Wild-type amyloidosis is caused by the overproduction of TTR proteins in the liver and an idiopathic overproduction of amyloid proteins. This sub-type generally affects those over 70 and usually impacts the heart.
- Hereditary amyloidosis is caused by genetic irregularities resulting in the overproduction of transthyretin (TTR) proteins. This hereditary condition leads to impaired heart and kidney function.
- AA amyloidosis is a result of other health disorders that cause chronic inflammation throughout the body, such as rheumatoid arthritis, which causes a build-up of amyloid A proteins in various organs, especially the kidneys, liver, and pancreas.
- Other forms of amyloidosis include dialysis-related amyloidosis, hereditary amyloidosis, or organ-specific amyloidosis, which have not yet spread to other organs.
What are the symptoms of AL amyloidosis?
Amyloidosis is a disorder that impacts several of the body’s systems. As such, its symptoms can be present in a multitude of ways, as follows:
- Nephrotic symptoms, which, in severe cases, can cause inflammation throughout the body, including the hands and feet
- Thickening of the heart muscle, leads to arrhythmia or a weakened pulse
- Numbness in the extremities of the fingers and toes
- Macroglossia (enlargement of the tongue)
- Bruising throughout the body
- A sudden loss of weight, stomach pains, nausea, and loss of appetite
How do medical staff diagnose AL amyloidosis?
Early diagnosis of this condition is a key factor that increases the chances of survival for the patient and can help ensure a high quality of life following treatments. Diagnosis can take a variety of forms, as follows:
- A review of the patient’s medical history is crucial to a successful diagnosis, so doctors must be thorough in their questioning, exploring all suspicions and applying their expertise to the situation in order to detect this condition at its outset.
- Blood and urine tests will provide an analysis of liver and kidney function.
- An endoscopy may be used to assess the upper and lower GI situation.
- An endoscopic ultrasound (EUS) - guided liver biopsy will enable doctors to confirm an amyloid deposit in the liver
- CT scans, MRI scans, and PET scans may also be utilized.
Is amyloidosis a treatable condition?
Amyloidosis can be treated using chemotherapy drugs combined with medication used to control the protein production of a specific type of white blood cell called plasma cells Currently, the most effective drugs used to treat patients diagnosed with AL amyloidosis are daratumumab when used alongside cyclophosphamide, bortezomib, and dexamethasone (CyBorD). Indeed, statistics show that 96% of patients respond well to treatment using this combination, while up to 54% of cases can be cured using the aforementioned mixture of drugs. If patients are experiencing severe symptoms, medical staff may consider stem cell transplant treatment. Alternatively, for patients who receive a diagnosis in the latter stages of the condition, when there has already been serious protein accumulation in the heart and liver, a liver or heart transplant may be required.
Amyloidosis is not a condition that can be prevented. Therefore, patients with underlying health issues who suspect the presence of such a disorder should seek urgent medical attention as an early diagnosis will enable timely treatment, which can increase the chances of survival as well as allow for a long and healthy life thereafter. In addition to being difficult to detect and diagnose, resulting in delayed treatment, the true causes of amyloidosis are often left undetected until after the patient has already passed away. Timely detection, a multidisciplinary team approach, and available standard-of-care treatments are vital for life-changing outcomes. Choosing the right hospital with a highly experienced and evidence-based teams and the availability of the latest medical technologies as well as comprehensive treatment options is critical.
A liver tissue sample obtained through an EUS-guided liver biopsy shows an abnormal protein accumulation.
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