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Vague pervasive symptoms These may include unintentional weight loss, fatigue, presyncope, postural hypotension, gastrointestinal disturbance, peripheral neuropathy including autonomic nervous dysfunction, erectile dysfunction and limb oedema.
Investigation
A few simple tests may confirm suspicions of amyloidosis. That said, the diagnosis is complex and diagnostic confirmation requires involvement of a specialised service. If amyloidosis is suspected, prompt referral is warranted.
Box 1 outlines clinical scenarios that
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Box 1. When to refer on suspicion of amyloidosis
Proteinuria
• Order a monoclonal gammopathy screen( serum and urine protein electrophoresis and serum free light chains) to assess for a monoclonal band, indicative of a plasma dyscrasia causing AL amyloidosis. Refer urgently to a haematologist or nephrologist.
Heart failure
• Cardiologist investigation and management is warranted.
• Heart failure with preserved ejection fraction makes amyloidosis cardiomyopathy more likely.
• Cardiac B-type natriuretic peptide may indicate amyloidosis cardiomyopathy before heart failure is symptomatic. 8
• A bone scan( cardiac amyloid bone scintigraphy) in ATTR amyloidosis can be diagnostic and avoids the need for risky and invasive cardiac muscle biopsy.
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Online resources
• Australian Amyloidosis Network aan. org. au( Includes amyloidosis treatment centres of excellence)
• Leukaemia Foundation bit. ly / 3zTFL21
• Optimal care pathway for people with AL amyloidosis, June 2023 bit. ly / 3TDidF5
was PBS-listed in 2024 for the treatment of ATTR amyloidosis cardiomyopathy. This agent may delay disease progression. Sim-
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Figure 1: The many potential manifestations of AL amyloidosis. |
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warrant further investigation and immediate specialist referral on suspicion of amyloidosis. This may be to a haematologist, nephrologist, cardiologist, neurologist, gastroenterologist or dermatologist, depend- |
Gastrointestinal manifestations
• Gastroenterology review for endoscopy or colonoscopy is indicated
• Biopsies need to be stained with Congo red for amyloid. This may be performed retrospectively on retrieved samples, if these are still available.
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ilarly, patisiran, a double-stranded small interfering RNA that blocks TTR mRNA, was PBS-listed in 2024 for treatment of ATTRv with neuropathy.
There are ongoing trials of multiple
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ing on presenting organ involvement. |
promising new therapies both in Australia |
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Definitive diagnosis may be complex. |
and internationally. |
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Biopsy samples, stained with Congo red for amyloid( staining apple-green birefringence under polarised light) may aid iden- |
Australian Amyloidosis Network outlines where to locate these centres of excellence nationally( see online resources). |
treatment of the underlying infectious or inflammatory disorder, where applicable.
A number of novel disease-modify-
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Conclusion
Amyloidosis is a rare condition which
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tification of the condition. However, biopsy of potentially affected organs, including liver, kidney and heart, carry signifi- |
Treatment
The treatment of amyloidosis is highly
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ing agents targeted at amyloidosis have been developed in recent years, which has resulted in significant improvements |
can present with myriad manifestations. Early identification and specialised targeted treatment is critical for improv- |
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cant rates of complications. Additionally, |
specialised and can be very effective when |
in disease survival and quality of life for |
ing morbidity and mortality outcomes |
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even when amyloid is identified histolog- |
the condition is diagnosed early. Treat- |
these subtypes of amyloidosis. |
for patients with this condition. GPs have |
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ically, this does not determine whether |
ment varies widely based on the type of |
These agents include daratumumab |
an important role to play in suspecting |
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the finding is localised( often not serious) |
amyloidosis, and whether there is a dis- |
( an anti-CD38 monoclonal antibody) in |
amyloidosis, particularly in those with |
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or systemic( can range from incidental to |
ease process that may be directly targeted, |
combination with bortezomib( a protea- |
suggestive presentations, when more |
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rapidly fatal). Specialised amyloidosis cen- |
to reduce amyloid deposits. For example, |
some inhibitor). This combination was |
typical diagnoses have been excluded. |
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tres of excellence can confirm the type of amyloidosis with immunohistochemistry, immunofluorescence or proteomics. The |
in AL amyloidosis, this involves measures to suppress the underlying plasma cell dyscrasia, and in AA amyloidosis, |
PBS-listed in January 2023 for the initial treatment of AL amyloidosis.
Tafamidis, a selective stabiliser of TTR
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References on request from kate. kelso @ adg. com. au |
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