Amyloidosis symptoms and causes explained

Abnormal protein deposits known as amyloid fibrils can collect in different tissues and organs, leading to the rare condition called amyloidosis. As these proteins build up, they may disrupt the normal functioning of vital organs such as the heart, kidneys, liver, or nervous system. This disruption often results in a variety of health complications, with symptoms that can vary widely depending on the organs affected. Learning about the signs and underlying causes of amyloidosis provides valuable insight into how this condition develops and why early detection plays a critical role in managing its impact on overall health.

Symptoms of Amyloidosis

The symptoms of amyloidosis vary significantly depending on the organs affected and the extent of protein buildup. Since amyloid deposits can form in multiple parts of the body, symptoms may be diverse and sometimes subtle. Common signs include unexplained weight loss, fatigue, and swelling in specific areas of the body.

When amyloid deposits impact the heart, individuals might experience shortness of breath, irregular heartbeat, or swelling in the legs and ankles. In cases where the kidneys are involved, symptoms can manifest as swelling in the legs or ankles, protein in the urine, or decreased kidney function. If the nervous system is affected, symptoms may include numbness, tingling, or weakness, especially in the hands and feet.

Gastrointestinal involvement can cause issues such as difficulty swallowing, diarrhea, or constipation. In some instances, the liver may enlarge, leading to a sensation of fullness or discomfort in the upper abdomen. Because symptoms often resemble those of other conditions, diagnosis can be complex and may require detailed medical evaluation.

Causes of Amyloidosis

Amyloidosis develops when abnormal proteins, known as amyloid, misfold and deposit in tissues and organs. Several factors contribute to this process, and different types of amyloidosis exist based on the specific proteins involved.

In primary amyloidosis, also called AL amyloidosis, abnormal plasma cells in the bone marrow produce excess light chains—components of antibodies—that misfold and form amyloid deposits. This form often occurs without an associated underlying disease but can be linked to plasma cell disorders.

Secondary amyloidosis, or AA amyloidosis, arises as a complication of chronic inflammatory or infectious diseases, such as rheumatoid arthritis or tuberculosis. Persistent inflammation triggers the overproduction of serum amyloid A protein, which can deposit in tissues over time.

Other types of amyloidosis depend on the specific proteins involved, such as transthyretin in hereditary amyloidosis or senile amyloidosis affecting the aging heart. Genetic factors can also play a role in some forms, with inherited mutations predisposing individuals to amyloid protein misfolding.

Understanding the Disease

Amyloidosis affects multiple organs and causes various symptoms, requiring careful evaluation. Awareness of its signs and causes is important for those at risk or affected.