From the Guidelines
Amyloidosis typically presents with a combination of signs and symptoms, including unexplained weight loss, fatigue, shortness of breath, swelling in the ankles and legs, enlarged tongue, skin changes, numbness or tingling in hands and feet, dizziness upon standing, and irregular heartbeat, as noted in a comprehensive review of AL amyloidosis 1. The disease can affect various organs, leading to a wide range of symptoms, and its diagnosis is often challenging due to its similarity to other conditions.
- Common signs of amyloidosis include:
- Unexplained weight loss
- Fatigue
- Shortness of breath
- Swelling in the ankles and legs (edema)
- Enlarged tongue (macroglossia)
- Skin changes, such as easy bruising or purpura around the eyes
- Numbness or tingling in hands and feet due to peripheral neuropathy
- Dizziness upon standing (orthostatic hypotension)
- Irregular heartbeat
- Organ-specific symptoms may also occur, such as:
- Heart involvement: chest pain, shortness of breath, and heart failure symptoms
- Kidney involvement: proteinuria and eventually kidney failure
- Gastrointestinal involvement: diarrhea, constipation, nausea, vomiting, and abdominal pain, which can be managed with dietary modifications and medications, as outlined in the 2023 ACC expert consensus decision pathway on comprehensive multidisciplinary care for the patient with cardiac amyloidosis 1. It is essential to recognize these signs and symptoms early, as timely diagnosis and treatment can significantly impact the patient's quality of life and outcome, as emphasized in a scientific statement from the American Heart Association 1.
From the Research
Signs and Symptoms of Amyloidosis
The signs and symptoms of amyloidosis can vary depending on the type of amyloid protein and the organ system involved 2, 3, 4, 5. Some common signs and symptoms include:
- Nonspecific symptoms such as fatigue, weight loss, and swelling 2
- Macroglossia (enlargement of the tongue) and periorbital purpura (bleeding under the skin around the eyes) in light chain (AL) amyloidosis 2
- Cardiac symptoms such as heart block, conduction block, and pericardial effusion in cardiac amyloidosis 4
- Renal symptoms such as proteinuria (excess protein in the urine) and kidney failure 3, 5
- Neurological symptoms such as numbness, tingling, and weakness in the hands and feet 3, 5
Organ-Specific Signs and Symptoms
Different organs can be affected in amyloidosis, leading to specific signs and symptoms, including:
- Cardiac amyloidosis: heart failure, arrhythmias, and conduction disturbances 4
- Renal amyloidosis: proteinuria, kidney failure, and nephrotic syndrome 3, 5
- Hepatic amyloidosis: liver enlargement and liver failure 3, 5
- Neurological amyloidosis: numbness, tingling, and weakness in the hands and feet, as well as autonomic dysfunction 3, 5
Diagnostic Challenges
The diagnosis of amyloidosis can be challenging due to the nonspecific nature of the signs and symptoms 2, 3, 6. A high index of suspicion is required, particularly in patients with chronic inflammatory diseases or multiple myeloma 2, 6. Imaging techniques such as echocardiography, cardiac magnetic resonance imaging, and technetium pyrophosphate scintigraphy can be useful in establishing the diagnosis of cardiac amyloidosis 4.