Summary about Disease
Amyloidosis is a rare disease that occurs when an abnormal protein called amyloid builds up in your organs and tissues. This buildup can affect the normal functioning of the organs and tissues. Amyloidosis can affect different organs in different people, and the severity of the disease can vary widely. There are several different types of amyloidosis, each linked to a specific protein that forms the amyloid deposits.
Symptoms
Symptoms of amyloidosis vary depending on which organs are affected. Common symptoms include:
Fatigue and weakness
Shortness of breath
Swelling of the ankles and legs
Numbness, tingling, or pain in the hands or feet
Skin changes, such as easy bruising or purplish patches
Weight loss
An enlarged tongue
Irregular heartbeat (arrhythmia)
Difficulty swallowing
Diarrhea or constipation
Causes
Amyloidosis is caused by the accumulation of abnormal amyloid proteins in organs and tissues. The specific cause varies depending on the type of amyloidosis:
AL Amyloidosis (Primary Amyloidosis): Caused by abnormal plasma cells in the bone marrow producing light chain amyloid proteins.
AA Amyloidosis (Secondary Amyloidosis): Caused by chronic inflammatory diseases, such as rheumatoid arthritis or inflammatory bowel disease, leading to the overproduction of serum amyloid A (SAA) protein.
Hereditary Amyloidosis (Familial Amyloidosis): Caused by inherited gene mutations that lead to the production of abnormal transthyretin (TTR) protein.
Wild-Type ATTR Amyloidosis (Senile Systemic Amyloidosis): Caused by age-related misfolding of normal TTR protein.
Localized Amyloidosis: Amyloid deposits are limited to a specific organ or tissue. The cause is not always known.
Medicine Used
Treatment for amyloidosis depends on the type and extent of the disease. The goal of treatment is to reduce the production of amyloid protein and manage symptoms. Medications used may include:
Chemotherapy Drugs: Used to target and kill the abnormal plasma cells in AL amyloidosis, such as melphalan, cyclophosphamide, bortezomib, and daratumumab.
Steroids: Prednisone may be used in combination with other medications to reduce inflammation and suppress the immune system.
TTR Stabilizers: Tafamidis, diflunisal, and patisiran can stabilize the TTR protein and prevent it from misfolding and forming amyloid deposits in hereditary or wild-type ATTR amyloidosis.
Organ Transplantation: In some cases, a stem cell transplant, heart transplant, or liver transplant may be necessary.
Is Communicable
Amyloidosis is not a communicable disease. It is not contagious and cannot be spread from person to person.
Precautions
There are no specific precautions to prevent amyloidosis, as many forms are linked to genetic factors or underlying conditions that are not preventable. However, managing chronic inflammatory diseases effectively may reduce the risk of AA amyloidosis. Individuals with a family history of hereditary amyloidosis should consider genetic counseling.
How long does an outbreak last?
Amyloidosis is not an outbreak-related disease. It is a chronic condition that progresses over time. The duration of the disease varies depending on the type of amyloidosis, the organs involved, and the effectiveness of treatment.
How is it diagnosed?
Diagnosing amyloidosis involves a combination of the following:
Physical Exam and Medical History: Assessing symptoms and risk factors.
Blood and Urine Tests: To detect abnormal protein levels and assess organ function.
Tissue Biopsy: A sample of tissue from an affected organ (e.g., bone marrow, kidney, heart, liver) is examined under a microscope to confirm the presence of amyloid deposits. Special stains are used to identify the type of amyloid protein.
Imaging Tests: Echocardiogram, MRI, and nuclear imaging to assess organ damage.
Genetic Testing: To identify gene mutations in hereditary amyloidosis.
Timeline of Symptoms
The timeline of amyloidosis symptoms varies greatly depending on the type and severity of the disease. Some individuals may experience a gradual onset of symptoms over months or years, while others may have a more rapid progression. The specific organs affected and the rate of amyloid deposition influence the timeline. Early symptoms may be subtle and nonspecific, making diagnosis challenging.
Important Considerations
Early diagnosis and treatment are crucial to slow the progression of amyloidosis and improve outcomes.
Amyloidosis can affect multiple organs, requiring a multidisciplinary approach to management.
Clinical trials are ongoing to develop new and more effective treatments for amyloidosis.
Support groups and resources are available for patients and families affected by amyloidosis.
Accurate typing of the amyloid protein is essential for guiding treatment decisions.