What is Amyloidosis?

Amyloidosis is a rare disease characterized by the accumulation of an abnormal protein called amyloid in the body. Amyloid can accumulate in various organs and tissues, leading to organ damage and dysfunction. It can affect many organs such as the heart, kidneys, liver, nervous system, digestive system, and skin. If amyloidosis is not diagnosed early and treated, it can cause serious health problems and even death.

Amyloidosis is a disease characterized by the accumulation of an abnormal protein called amyloid in the body. Amyloid is a folded and insoluble protein that is not normally present in the body. This protein accumulates in various organs and tissues, leading to organ damage and dysfunction. Amyloidosis has different types depending on the affected organ and the type of amyloid protein.

The symptoms of amyloidosis can vary depending on the organ affected by amyloid accumulation and the severity of the disease. Some individuals may show no symptoms, while others may experience severe symptoms. The most common symptoms are:

• Kidney involvement: Protein leakage in urine (proteinuria), edema (swelling), high blood pressure, and kidney failure
• Heart involvement: Shortness of breath, chest pain, palpitations, heart failure
• Liver involvement: Abdominal swelling, jaundice, liver failure
• Nervous system involvement: Numbness, tingling, muscle weakness, dizziness, fainting
• Digestive system involvement: Diarrhea, constipation, abdominal pain, weight loss
• Skin involvement: Bruising, itching, skin thickening

Amyloidosis occurs due to excessive production or abnormal folding of amyloid protein in the body. There are different types of amyloidosis, and each type may have a different cause. The most common types of amyloidosis are:

• AL amyloidosis (Primary amyloidosis): It occurs as a result of abnormal protein (light chain) production by plasma cells in the bone marrow. This protein accumulates as amyloid in different organs.
• AA amyloidosis (Secondary amyloidosis): It develops due to excessive production of a protein called serum amyloid A (SAA) as a result of chronic inflammation (such as rheumatoid arthritis, Crohn's disease).
• ATTR amyloidosis (Hereditary amyloidosis): It occurs due to abnormal folding of a protein called transthyretin (TTR). This protein accumulates in the heart, nervous system, and other organs. It is genetically inherited.
• Beta-2 microglobulin amyloidosis: This type of amyloidosis is seen in dialysis patients. A protein called beta-2 microglobulin accumulates in the body during dialysis and deposits as amyloid in joints and other tissues.

The following methods can be used to diagnose amyloidosis:

• History and physical examination: Symptoms of amyloidosis and risk factors are evaluated.
• Blood and urine tests: Blood and urine tests are performed to assess amyloid proteins and organ damage.
• Biopsy: A small tissue sample is taken from the affected organ (kidney, heart, liver, nerve, skin, etc.) and examined under a microscope. Special stains are used to detect amyloid deposits. Biopsy is the most definitive method for diagnosing amyloidosis.
• Imaging tests: Imaging tests such as echocardiography (heart ultrasound), electrocardiography (ECG), abdominal ultrasound, computed tomography (CT), or magnetic resonance imaging (MRI) can be performed to evaluate affected organs.
• Genetic tests: Genetic tests can be done if hereditary amyloidosis is suspected.

There is no definitive cure for amyloidosis. However, treatment can slow disease progression, prevent organ damage, and control symptoms. Treatment options vary depending on the type of amyloidosis and affected organs. Treatment options include:

• Treatment of the underlying cause: In AL amyloidosis, chemotherapy or stem cell transplantation may be applied to reduce abnormal protein production by plasma cells in the bone marrow. In AA amyloidosis, medications are used to control the underlying inflammation.
• Treatment of organ damage: Organ-specific treatments such as dialysis or kidney transplantation for kidney failure, and medication or heart transplantation for heart failure can be applied.
• Symptom treatment: Treatments targeting symptoms include diuretics for edema, painkillers for pain, medications or physical therapy for nervous system involvement.
• New drugs: Recently, new drugs aimed at reducing or preventing amyloid accumulation have been developed. These drugs show promising results in some types of amyloidosis.

Amyloidosis can cause amyloid accumulation in the heart and stiffening of the heart muscle. This condition can lead to heart failure, arrhythmias, and sudden death. Cardiac involvement in amyloidosis is a serious condition, and early diagnosis and treatment are important.

Amyloidosis can cause amyloid accumulation in the kidneys and damage to the glomeruli. This condition may lead to protein leakage in the urine (proteinuria), edema (swelling), high blood pressure, and kidney failure. Renal involvement in amyloidosis is one of the most common and serious complications of the disease.

Amyloidosis can cause amyloid accumulation and nerve damage in the nervous system. This condition may lead to numbness, tingling, muscle weakness, dizziness, fainting, and other neurological problems. Nervous system involvement in amyloidosis can be seen in the advanced stages of the disease.

The prognosis of amyloidosis (the course and outcome of the disease) varies depending on the type of amyloidosis, the affected organs, and the severity of the disease. Early diagnosis and treatment can slow disease progression and prolong survival. However, amyloidosis is a serious condition, and some types can be life-threatening.

If you experience symptoms of amyloidosis or carry a risk for amyloidosis, it is important to consult a doctor without delay. Early diagnosis and treatment can prevent organ damage and extend life expectancy.

Amyloidosis is a rare and difficult-to-diagnose disease. At A Life Health Group, our experienced internal medicine specialists, nephrologists, cardiologists, neurologists, and other healthcare professionals work together to assist you in the diagnosis and treatment of amyloidosis.

Our Services:

• Multidisciplinary Approach: Amyloidosis is a complex disease that can affect many organs. Therefore, collaboration among physicians from different specialties is important. At A Life Sağlık Group, we adopt a multidisciplinary approach for our patients with amyloidosis.
• Advanced Diagnostic Methods: We use advanced diagnostic methods such as biopsy, blood and urine tests, imaging tests, and genetic testing to diagnose amyloidosis.
• Personalized Treatment: We create personalized treatment plans according to the type of amyloidosis, affected organs, and severity of the disease.
• Supportive Care: We offer supportive treatment services to alleviate amyloidosis symptoms and improve your quality of life.
• Genetic Counseling: We provide genetic counseling services for our patients with hereditary amyloidosis and their families.

Note: The information provided in this article is for general informational purposes only and does not replace medical advice. If you have any health concerns, please consult a doctor.