Amyloidosis
Amyloidosis encompasses a group of multisystemic diseases caused by abnormal protein folding and deposition in tissues, known as amyloid deposits. These accumulate faster than they can be cleared away and, therefore, build up within organs and tissues, interfering with structure and function. Multiple different proteins can be involved, and the clinical presentation can differ depending on the subtype.
Subtypes of amyloidosis
Classification is based on the precursor protein:
| Subtype | Precursor | Association | Clinical features |
|---|---|---|---|
| AL amyloid | Monoclonal Ig light chains | Myeloma
Waldenström’s macroglobulinaemia MGUS |
Nephrotic syndrome
Macroglossia Periorbital ecchymosis Right ventricular failure Can affect any organ excluding brain |
| AA amyloid | Amyloid A protein | Chronic inflammation/infection
Rheumatoid arthritis Tuberculosis FMF |
Renal involvement most common, such as nephrotic syndrome
Hepatomegaly |
| Dialysis-related amyloidosis | Beta-2 microglobulin | Dialysis | Arthritis
Carpal tunnel syndrome Cysts in bone |
| ATTR amyloidosis | Transthyretin fibril protein | Wild-type ATTR accumulation or
genetic mutations in ATTR |
Right ventricular failure
AV block Carpal tunnel syndrome Spinal stenosis |
Table 8 Clinical features and associations of amyloidosis subtypes
There are also other genetic forms of amyloidosis which will not be discussed here.
Diagnosis and management of amyloidosis
Histological confirmation is required to establish a diagnosis. With Congo red stain, the sample appears red under normal light and apple green under polarised light microscopy.
Management is tailored toward the clinical manifestations and treating the underlying causative disorder.
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