Epidemiology of AL amyloidosis: a real-world study using US claims data

Quock, Tiffany P.; Yan, Tingjian; Chang, Eunice; Guthrie, Spencer; Broder, Michael S.

doi:10.1182/bloodadvances.2018016402

Cited by 321 publications

(259 citation statements)

References 25 publications

(41 reference statements)

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“…Among these, Light-chain (AL) amyloidosis, also known as primary amyloidosis, is the most common form. It is a rare systemic disease with an estimated annual incidence of 9.7 to 14.0 cases per million people [1,2]. It is characterized by the extracellular tissue deposition of amyloid fibrils derived from kappa or lambda monoclonal light chains.…”

Section: Introductionmentioning

confidence: 99%

Progressive chorioretinal involvement in a patient with light-chain (AL) amyloidosis: a case report

2020

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Background: To report an unusual case of light-chain (AL) amyloidosis with progressive bilateral chorioretinal abnormalities documented with short-wavelength autofluorescence, SD-OCT, fluorescein and indocyanine green angiography. Case presentation: Case report of a forty-three-year-old male patient with kappa AL amyloidosis. The patient presented with rapidly progressing pigmented and hyperautofluorescent drusenoid deposits in both eyes, associated with central serous retinal detachments, a pachychoroid and choriocapillaris enlargement. The general assessment revealed a renal failure symptomatic of a nephrotic syndrome, associated with proteinuria composed mainly of free kappa light chains. A kidney biopsy confirmed the diagnosis of kappa AL amyloidosis. Chemotherapy was quickly started. During remission, the extension of drusenoid deposits on the fundus was stopped and a disappearance of the subretinal fluid on SD-OCT was observed. Conclusions: AL amyloidosis is an insidious and potentially fatal condition. This case is one of the first to document the rapid progression of fundus alterations and their stabilization after disease remission. Identifying these specific fundus abnormalities is essential to avoid diagnosis wandering and therapeutic delay.

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Section: Introductionmentioning

confidence: 99%

Progressive chorioretinal involvement in a patient with light-chain (AL) amyloidosis: a case report

2020

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“…Immunoglobulin light chain amyloidosis is a rare etiology of infiltrative cardiomyopathy due to amyloid protein deposition . Recent epidemiological findings in the United States from 2007 to 2015 found the incidence of AL amyloidosis to range from 10.8 to 15.2 cases per million person‐years . Given chronic multi‐system involvement, symptoms are generally nonspecific, making diagnosis challenging.…”

Section: Discussionmentioning

confidence: 99%

A rare systemic etiology of heart failure and liver dysfunction

Lee

Chau

Patel

et al. 2019

Clinical Case Reports

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“…Due to the relative rarity of this disorder and lack of awareness, it is often diagnosed at late stages with advanced organ involvement, resulting in a median overall survival [OS] of 2-3 years from diagnosis. Importantly, although AL amyloidosis is considered a rare disease with a historic incidence of 10 cases per million individuals per year in developed countries, the prevalence of AL amyloidosis continues to increase as diagnostic tools and clinical awareness improves 12,13 .…”

Section: Introductionmentioning

confidence: 99%

Clonal plasma cells in AL amyloidosis are dependent on pro survival BCL-2 family proteins and sensitive to BH3 mimetics

Fraser¹,

Presser²,

Sanchorawala

et al. 2019

Preprint

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Immunoglobulin light chain (AL) amyloidosis is a protein misfolding disorder characterized by the production of amyloidogenic immunoglobulin light chains by clonal populations of plasma cells. These abnormal light chains misfold and accumulate as amyloid fibrils in healthy tissues causing devastating multi-organ dysfunction that is rapidly fatal. Current treatment regimens, which include proteasome inhibitors, alkylating agents, and immunomodulatory agents, were developed for the treatment of the more common plasma cell disease, multiple myeloma, and have limited efficacy in AL amyloidosis as demonstrated by the median survival of 2-3 years. The recent development of novel small-molecule inhibitors of the major pro-survival proteins from the apoptosis-regulating BCL-2 family has created an opportunity to therapeutically target abnormal cell populations, yet identifying the extent of these dependencies and how to target them clinically has thus far been challenging. Using bone marrow-derived plasma cells from 45 patients with AL amyloidosis, we find that clonal plasma cells are highly primed to undergo apoptosis and exhibit strong dependencies on pro-survival BCL-2 family proteins. Specifically, we find that clonal plasma cells in a majority of patients are highly dependent on the pro-survival protein MCL-1 and undergo apoptosis when treated with an MCL-1 inhibitor as a single agent. In addition, BCL-2 inhibition sensitizes clonal plasma cells to several current standard of care therapies. Our results suggest that BH3 mimetics, when deployed rationally, may be highly effective therapies for AL amyloidosis.

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Epidemiology of AL amyloidosis: a real-world study using US claims data

Abstract: Key Points AL amyloidosis prevalence increased while incidence rates remained stable over a 9-year period (2007-2015).

Cited by 321 publications

References 25 publications

Progressive chorioretinal involvement in a patient with light-chain (AL) amyloidosis: a case report

Progressive chorioretinal involvement in a patient with light-chain (AL) amyloidosis: a case report

A rare systemic etiology of heart failure and liver dysfunction

Clonal plasma cells in AL amyloidosis are dependent on pro survival BCL-2 family proteins and sensitive to BH3 mimetics

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