From the Guidelines
Amyloidosis presents with a wide range of clinical symptoms that vary depending on which organs are affected by the abnormal protein deposits, including fatigue, weight loss, and feeling weak, as well as organ-specific symptoms such as heart failure, nephrotic syndrome, and peripheral neuropathy. The symptoms of amyloidosis can be divided into several categories, including:
- Constitutional symptoms: weight loss, fatigue
- Cardiac symptoms: shortness of breath, chest pain, irregular heartbeat, and swelling in the legs and ankles due to heart failure
- Renal symptoms: protein in the urine, swelling in the legs, and eventually kidney failure
- Neurological symptoms: numbness, tingling, or pain in the extremities (peripheral neuropathy), dizziness upon standing (orthostatic hypotension), and bowel or bladder dysfunction
- Gastrointestinal manifestations: diarrhea, constipation, feeling full quickly, and unintentional weight loss
- Other symptoms: easy bruising, purplish patches around the eyes (periorbital purpura), and thickened skin, as well as carpal tunnel syndrome 1.
The clinical presentation of amyloidosis can vary depending on the type of amyloid protein deposited and the organs involved. For example, patients with AL amyloidosis may present with a range of symptoms, including fatigue, weight loss, and feeling weak, as well as organ-specific symptoms such as heart failure and nephrotic syndrome 1. In contrast, patients with ATTR amyloidosis may present with cardiac symptoms, such as shortness of breath and chest pain, as well as gastrointestinal symptoms, such as diarrhea and constipation 1.
Early recognition of the symptoms of amyloidosis is crucial for timely diagnosis and treatment of this potentially life-threatening condition. A comprehensive diagnostic approach, including tissue biopsy and typing, is necessary to confirm the diagnosis of amyloidosis and to determine the type of amyloid protein deposited 1.
The symptoms of amyloidosis develop gradually as amyloid proteins accumulate in tissues, progressively impairing organ function. Therefore, it is essential to identify high-risk patient populations who would benefit from regular screening to establish a diagnosis before symptom onset 1.
In summary, the clinical symptoms of amyloidosis are diverse and depend on the organs involved, and early recognition of these symptoms is crucial for timely diagnosis and treatment.
From the Research
Clinical Symptoms of Amyloidosis
The clinical symptoms of amyloidosis can vary depending on the organs involved and the type of amyloid protein deposited. Some common symptoms include:
- Weight loss, chronic diarrhea, abdominal pain, intestinal bleeding, or pseudo-obstruction in intestinal amyloidosis 2
- Nonspecific pulmonary manifestations, such as septal and parenchymal ground glass or nodular infiltrates, multiple nodules, cysts, and focal tracheobronchial abnormalities 3
- Organ dysfunction or clinical signs and symptoms, such as cardiac, renal, or hepatic involvement 4, 3, 5, 6
- Gastrointestinal symptoms, such as abdominal pain, diarrhea, or intestinal bleeding, which can be misdiagnosed as other diseases of the digestive tract 2
Organ-Specific Symptoms
Different organs can be involved in amyloidosis, leading to distinct clinical features, including:
- Cardiac symptoms, such as heart failure or arrhythmias, in cardiac transthyretin amyloidosis 4
- Renal symptoms, such as proteinuria or kidney failure, in patients with renal involvement 5, 6
- Hepatic symptoms, such as liver dysfunction or failure, in patients with hepatic involvement 5, 6
Diagnostic Challenges
Amyloidosis can be difficult to diagnose due to its nonspecific symptoms and the variability of organ involvement. A definitive diagnosis often requires biopsy of an involved organ or tissue, as well as identification of the amyloidogenic protein using techniques such as laser capture microdissection and tandem mass spectrometry 4 or Congo red staining and apple-green birefringence 2.