What are the signs of amyloidosis that aid in its detection?

Question

Hi doctor,

My 72-year-old grandmother was recently diagnosed with amyloidosis, a condition I am embarrassed to admit I had never heard of before. Can you explain what amyloidosis is and how it affects the body? What are the common symptoms my grandmother may experience? I am also concerned because my mom is her caretaker, and I worry this could potentially run in our family. Is amyloidosis a genetic condition that is passed down? If so, what are the chances my mom or even I could develop it later in life? Are there screening tests available to check for amyloidosis before symptoms appear? At 18 years old, I never imagined having to learn about something like this, but my grandmother's diagnosis made me anxious. I want to be as informed as possible about this disease, the treatment options, and, most importantly, if I need to monitor for signs of it within my own family in the future.

Kindly help.

Answer 1

Hello,

I am glad you chose icliniq for your medical-related queries.

I can understand your concern.

Amyloidosis is a rare disease where abnormal proteins called amyloids accumulate in organs and tissues throughout the body. There are different types of amyloid proteins, with the most common being AL (amyloid light chain) amyloidosis, AA (amyloid A protein) amyloidosis, and ATTR (amyloid transport protein transthyretin) amyloidosis.

These deposits can stiffen the heart, causing restrictive cardiomyopathy, heart failure, and arrhythmias. They can also lead to kidney dysfunction, proteinuria, and eventually renal failure. Amyloidosis can cause peripheral and autonomic neuropathy, affecting the liver, and spleen, and causing issues like malabsorption, diarrhea, and gastrointestinal bleeding. It may also lead to easy bruising, purpura around the eyes, and an enlarged tongue.

Other symptoms include fatigue, weight loss, swelling of the ankles and legs, numbness or tingling in the hands and feet, shortness of breath, irregular heartbeat, and difficulty swallowing.

Some types of amyloidosis are genetic. If your grandmother has hereditary amyloidosis, there is a 50 percent chance that each of her children, including your mother, has inherited the mutated gene. If your mother carries the gene, you have a 50 percent chance of inheriting it as well. For individuals with a family history of hereditary amyloidosis, genetic testing can determine if they carry the gene mutation. Dietary adjustments and physical activity can be beneficial. It is crucial to undergo a physical examination by a doctor in a hospital setting.

Hope I have clarified your query. I will be happy to help you further.

Thank you.