Amyloidosis
Description
Amyloidosis is a rare group of diseases where abnormal proteins, called amyloid, build up in organs. This buildup can disrupt normal organ function, leading to a range of symptoms. Understanding the causes, symptoms, diagnosis, and management of amyloidosis is crucial for individuals and their families.
Genes Involved
While the exact cause of amyloidosis is unknown in many cases, genetic factors play a role in some types. Certain genes, such as the transthyretin (TTR) gene, are associated with familial amyloidosis. These genes can be passed down through generations, increasing the risk of developing the disease.
Recognizing the Signs and Symptoms
Symptoms of amyloidosis can vary depending on which organs are affected. Common symptoms include fatigue, unexplained weight loss, swelling in the legs and ankles, shortness of breath, and heart palpitations. Other symptoms may include numbness or tingling in the hands and feet, vision problems, and kidney problems. Early detection is key, so consult a doctor if you experience any of these symptoms.
Causes
Amyloidosis can be caused by various factors, including genetic mutations, age, and other underlying health conditions. It can be classified into two main types: primary amyloidosis, which develops without a known cause, and secondary amyloidosis, which occurs as a complication of another disease, such as rheumatoid arthritis or chronic infections.
Inheritance/recurrence risk
The inheritance pattern of amyloidosis depends on the specific type and the genes involved. Some types are inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is enough to cause the disease. The risk of recurrence in family members varies depending on the specific type and inheritance pattern.
