Diagnosis of Amyloidosis
Diagnosing amyloidosis can be challenging because its symptoms are vague and overlap with many other conditions. In the Diagnosis of Amyloidosis, early signs may be mistaken for fatigue, kidney problems, or even simple ageing. For this reason, many people are only diagnosed when organ damage is already advanced.
Step 1: Clinical Suspicion
Doctors begin with a detailed history and physical examination, looking for signs like:
- Unexplained weight loss
- Swelling in the legs or abdomen (due to heart or kidney involvement)
- Tingling or numbness in hands and feet
- Fatigue or shortness of breath
- Foamy urine (protein loss)
Red flags may include unexplained heart failure or kidney dysfunction in someone without typical risk factors.
Step 2: Laboratory Tests
Blood and urine tests can reveal:
- Abnormal proteins (especially in AL amyloidosis)
- Elevated inflammatory markers (in AA amyloidosis)
- Kidney function problems (e.g. proteinuria or high creatinine)
Serum and urine protein electrophoresis and free light chain assays are key in detecting monoclonal proteins linked to AL amyloidosis.
Step 3: Biopsy
Definitive diagnosis requires a tissue biopsy. Common sites include:
- Abdominal fat pad
- Bone marrow
- Kidney or heart (if organ-specific symptoms exist)
A special stain called Congo red shows apple-green birefringence under polarised light — confirming amyloid.
Step 4: Typing the Amyloid
Once doctors confirm amyloid, further testing (immunohistochemistry or mass spectrometry) determines the type of amyloid protein involved, which is essential for selecting the correct treatment
In South Africa, doctors may diagnose amyloidosis through academic hospitals and tertiary centres, though accessing advanced testing may require a referral
Early detection makes a significant difference in survival and quality of life. Let’s explore how doctors treat amyloidosis.
👉 [Next: Treatment for Amyloidosis]
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