Multisystemic symptoms, signs, and clues for amyloidosis
| . | Clinical manifestations . | Key laboratory and imaging findings . | Definition of organ involvement . |
|---|---|---|---|
| Kidney | Peripheral edema, periorbital puffiness, anasarca, nephrotic syndrome | Albuminuria ≥0.5 g/24 h | Biomarker staging (refer to Table 3) |
| Heart | Dyspnea, jugular venous distension, peripheral edema, arrhythmia, HFpEF | Elevated cardiac biomarkers ECG—low voltage in limb leads, pseudoinfarct pattern, arrhythmia TEE—ventricular hypertrophy, thickened IVS, abnormal GLS | Biomarker staging (refer to Table 3) Echo wall thickness >1.5 cm |
| Liver | Hepatomegaly with cholestasis Abdominal distension | ALP elevation, elevated bilirubin in advanced infiltration Enlarged liver on imaging | Elevated ALP >1.5 times upper limit of normal Liver span >15 cm in the absence of heart failure |
| Nerves | Ascending length-dependent symmetric small-fiber peripheral neuropathy, autonomic neuropathy (orthostatic hypotension, early satiety, gastroparesis, irregular bowel movements, voiding difficulty, erectile dysfunction) | EMG/NCS may be helpful | N/A |
| GI tract | Dysphagia, early satiety, gastroparesis, GI bleeding, irregular bowel movements, weight loss, malabsorption | Anemia, hypoalbuminemia, low vitamin D | N/A |
| Spleen | Splenomegaly, functional asplenia Abdominal distension | Enlarged spleen on imaging, Howell-Jolly bodies on peripheral smear | N/A |
| Lung | Dyspnea, cough, hemoptysis | CT imaging—interstitial pattern or nodular cystic lesions | N/A |
| Skin | Cutaneous plaques, purpura | N/A | |
| Other | Periorbital purpura Macroglossia Enlarged salivary glands Hoarseness Arthropathy Pseudohypertrophy of muscles Jaw claudication Carpal tunnel syndrome | Low factor X activity | N/A |
| . | Clinical manifestations . | Key laboratory and imaging findings . | Definition of organ involvement . |
|---|---|---|---|
| Kidney | Peripheral edema, periorbital puffiness, anasarca, nephrotic syndrome | Albuminuria ≥0.5 g/24 h | Biomarker staging (refer to Table 3) |
| Heart | Dyspnea, jugular venous distension, peripheral edema, arrhythmia, HFpEF | Elevated cardiac biomarkers ECG—low voltage in limb leads, pseudoinfarct pattern, arrhythmia TEE—ventricular hypertrophy, thickened IVS, abnormal GLS | Biomarker staging (refer to Table 3) Echo wall thickness >1.5 cm |
| Liver | Hepatomegaly with cholestasis Abdominal distension | ALP elevation, elevated bilirubin in advanced infiltration Enlarged liver on imaging | Elevated ALP >1.5 times upper limit of normal Liver span >15 cm in the absence of heart failure |
| Nerves | Ascending length-dependent symmetric small-fiber peripheral neuropathy, autonomic neuropathy (orthostatic hypotension, early satiety, gastroparesis, irregular bowel movements, voiding difficulty, erectile dysfunction) | EMG/NCS may be helpful | N/A |
| GI tract | Dysphagia, early satiety, gastroparesis, GI bleeding, irregular bowel movements, weight loss, malabsorption | Anemia, hypoalbuminemia, low vitamin D | N/A |
| Spleen | Splenomegaly, functional asplenia Abdominal distension | Enlarged spleen on imaging, Howell-Jolly bodies on peripheral smear | N/A |
| Lung | Dyspnea, cough, hemoptysis | CT imaging—interstitial pattern or nodular cystic lesions | N/A |
| Skin | Cutaneous plaques, purpura | N/A | |
| Other | Periorbital purpura Macroglossia Enlarged salivary glands Hoarseness Arthropathy Pseudohypertrophy of muscles Jaw claudication Carpal tunnel syndrome | Low factor X activity | N/A |
N/A: No specific definition for organ involvement but rather based on symptoms and key laboratory and/or imaging findings.
ALP, alkaline phosphatase; CT, computerized tomography; ECG, electrocardiogram; EMG, ; GI, gastrointestinal; GLS, ; HFpEF, heart failure with preserved ejection fraction; IVS, ; NCS, ; TEE, transthoracic echocardiogram.