How We Manage Systemic Immunoglobulin Heavy Chain Amyloidosis (AH Amyloidosis) and Immunoglobulin Heavy-and-Light-Chain Amyloidosis (AH/AL Amyloidosis)

Chaulagain, Chakra P; Herlitz, Leal; Fu, Julie; Bilani, Nadeem; Lucitt, Camerun; Comenzo, Raymond L.

doi:10.1016/j.clml.2020.06.017

Cited by 8 publications

(5 citation statements)

References 20 publications

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“…AH amyloidosis is commonly associated with plasma cell dyscrasia. The literature regarding AH is scarce, and while additional studies are needed to shed light on heavy amyloidosis, data presented to date suggest important practical implications, including differences in clinical picture, prognosis and pathologic diagnosis [6] . Clinically significant enlargement of the thyroid due to amyloid depositions unrelated to calcitonin is an extremely rare condition.…”

Section: Discussionmentioning

confidence: 99%

A case of amyloid goitre in heavy chain amyloidosis: diagnostic challenges and clinical implications

Laranjeira,

Neves,

Bernardo

et al. 2024

European Journal of Case Reports in Internal Medicine

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Immunoglobulin heavy chain amyloidosis (AH amyloidosis) is an extremely rare subtype of immunoglobulin-derived amyloidosis and there is limited literature on how to diagnose and manage this disorder. We describe a rare case of AH amyloidosis with amyloid goitre and the importance of mass spectrometry in the identification of the different types of amyloids. While additional studies are needed, several observations suggest important practical implications, including differences in clinical picture, prognosis, and pathologic diagnosis.

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Section: Discussionmentioning

confidence: 99%

A case of amyloid goitre in heavy chain amyloidosis: diagnostic challenges and clinical implications

Laranjeira,

Neves,

Bernardo

et al. 2024

European Journal of Case Reports in Internal Medicine

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“…Mass spectrometry can confirm the amyloid protein composition, and it is considered the standard for typing the protein subunit in amyloid deposits. The technique can be applied to almost any tissue source, including nerves and fat, 29 and it can identify heavy chain as well as light chain amyloidosis 30 . Mass spectroscopy is superior to immunohistochemistry in identifying the protein subunit 31 .…”

Section: Disease Overviewmentioning

confidence: 99%

Immunoglobulin light chain amyloidosis: 2024 update on diagnosis, prognosis, and treatment

Gertz

2023

American J Hematol

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Disease OverviewImmunoglobulin light chain amyloidosis is a clonal, nonproliferative plasma cell disorder in which fragments of immunoglobulin light or heavy chain are deposited in tissues. Clinical features depend on organs involved but can include heart failure with preserved ejection fraction, nephrotic syndrome, hepatic dysfunction, peripheral/autonomic neuropathy, and “atypical smoldering multiple myeloma or MGUS.”DiagnosisTissue biopsy stained with Congo red demonstrating amyloid deposits with apple‐green birefringence is required for the diagnosis of AL amyloidosis. Organ biopsy is not required in 85% of patients. Verification that amyloid is composed of immunoglobulin light chains is mandatory. The gold standard is laser capture mass spectroscopy.PrognosisN‐terminal pro–brain natriuretic peptide (NT‐proBNP or BNP), serum troponin T(or I), and difference between involved and uninvolved immunoglobulin free light chain values are used to classify patients into four stages; 5‐year survivals are 82%, 62%, 34%, and 20%, respectively.TherapyAll patients with a systemic amyloid syndrome require therapy to prevent deposition of amyloid in other organs and prevent progressive organ failure. Current first‐line therapy with the best outcome is daratumumab, bortezomib, cyclophosphamide, and dexamethasone. The goal of therapy is a ≥VGPR. In patients failing to achieve this depth of response options for consolidation include pomalidomide, stem cell transplantation, venetoclax, and bendamustine.Future ChallengesDelayed diagnosis remains a major obstacle to initiating effective therapy prior to the development of end‐stage organ failure. Trials of antibodies to deplete deposited fibrils are underway.

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“…The technique can be applied to almost any tissue source, including nerves and fat, 24 and it can identify heavy chain as well as light chain amyloidosis. 25 Mass spectroscopy is superior to immunohistochemistry in identifying the protein subunit. 26 Cardiac amyloidosis in the presence of a monoclonal gammopathy does not necessarily mean the amyloidosis is AL.…”

Section: Patientmentioning

confidence: 99%

“…Mass spectrometry can confirm the amyloid protein composition, and it is considered the standard for typing the protein subunit in amyloid deposits. The technique can be applied to almost any tissue source, including nerves and fat, 24 and it can identify heavy chain as well as light chain amyloidosis 25 . Mass spectroscopy is superior to immunohistochemistry in identifying the protein subunit 26 .…”

Section: Disease Overviewmentioning

confidence: 99%

Immunoglobulin light chain amyloidosis: 2022 update on diagnosis, prognosis, and treatment

Gertz

2022

American J Hematol

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Disease overview Immunoglobulin light chain amyloidosis is a clonal, nonproliferative plasma cell disorder in which fragments of immunoglobulin light or heavy chain are deposited in tissues. Clinical features depend on organs involved but can include heart failure with preserved ejection fraction, nephrotic syndrome, hepatic dysfunction, peripheral/autonomic neuropathy, and “atypical smoldering multiple myeloma or monoclonal gammopathy of undetermined significance (MGUS).” Diagnosis Tissue biopsy stained with Congo red demonstrating amyloid deposits with apple‐green birefringence is required for the diagnosis of AL amyloidosis. Invasive organ biopsy is not required in 85% of patients. Verification that amyloid is composed of immunoglobulin light chains is mandatory. The gold standard is laser capture mass spectroscopy. Prognosis N‐terminal pro–brain natriuretic peptide (NT‐proBNP or BNP), serum troponin T (or I), and difference between involved and uninvolved immunoglobulin free light chain values are used to classify patients into four groups of similar size; median survivals are 73, 35, 15, and 5 months. Therapy All patients with a systemic amyloid syndrome require therapy to prevent deposition of amyloid in other organs and prevent progressive organ failure. Current first‐line therapy with the best outcome is daratumumab, bortezomib, cyclophosphamide, and dexamethasone. The goal of therapy is a complete response (CR). In patients failing to achieve this depth of response options for consolidation include pomalidomide, stem cell transplantation, venetoclax, and bendamustine. Future challenges Delayed diagnosis remains a major obstacle to initiating effective therapy prior to the development of end‐stage organ failure. Trials of antibodies to catabolize deposited fibrils are underway.

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How We Manage Systemic Immunoglobulin Heavy Chain Amyloidosis (AH Amyloidosis) and Immunoglobulin Heavy-and-Light-Chain Amyloidosis (AH/AL Amyloidosis)

Cited by 8 publications

References 20 publications

A case of amyloid goitre in heavy chain amyloidosis: diagnostic challenges and clinical implications

A case of amyloid goitre in heavy chain amyloidosis: diagnostic challenges and clinical implications

Immunoglobulin light chain amyloidosis: 2024 update on diagnosis, prognosis, and treatment

Immunoglobulin light chain amyloidosis: 2022 update on diagnosis, prognosis, and treatment

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