Amyloidosis | Medibuddy
26th February 2025

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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