Immunoglobulin light chain amyloidosis: 2018 Update on diagnosis, prognosis, and treatment

Gertz, Morie A.

doi:10.1002/ajh.25149

Cited by 109 publications

(97 citation statements)

References 151 publications

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“…As ATTRm has a wide range of age of onset with some mutations not being fully penetrant, one of the most pressing issues in the current management of ATTRm is both to diagnose ATTRm as early as possible and to define the optimum time to start gene silencing therapy. Clinical examination and outcome measures, such as the neuropathy impairment score (NIS), will detect the development of a significant large fibre neuropathy but unfortunately, by the time the neuropathy is clinically evident, the disease often progresses rapidly and irreversible disability is acquired …”

Section: Introductionmentioning

confidence: 99%

“…Clinical examination and outcome measures, such as the neuropathy impairment score (NIS), will detect the development of a significant large fibre neuropathy but unfortunately, by the time the neuropathy is clinically evident, the disease often progresses rapidly and irreversible disability is acquired. 4 There is therefore a need for a biomarker that can detect the onset of peripheral neuropathy before the emergence of significant clinical disability. Neurofilaments are the major cytoskeletal proteins of neurons and comprise a light, medium and heavy chain.…”

Section: Introductionmentioning

confidence: 99%

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Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis

Kapoor

Foiani

Heslegrave

et al. 2019

J Peripheral Nervous Sys

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Hereditary transthyretin amyloidosis (ATTRm) causes a disabling peripheral neuropathy as part of a multisystem disorder. The recent development of highly effective gene silencing therapies has highlighted the need for effective biomarkers of disease activity to guide the decision of when to start and stop treatment. In this study, we measured plasma neurofilament light chain (pNfL) concentration in 73 patients with ATTR and found that pNfL was significantly raised in ATTRm patients with peripheral neuropathy compared to healthy controls. Furthermore, pNFL correlated with disease severity as defined by established clinical outcome measures in patients for whom this information was available. These findings suggest a potential role of pNfL in monitoring disease activity and progression in ATTRm patients.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis

Kapoor

Foiani

Heslegrave

et al. 2019

J Peripheral Nervous Sys

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“…Similar processes are observed both for pathological changes, and for the normal state of many living organisms [4,5]. The most severe manifestations of the formation of β-structured protein deposits in the body include amyloidosis -a rather large group of diseases that are not curable [6,7]. Formation of amyloid fibrils and aggregates formed by them is a regular multistage process due to the formation of several levels of supramolecular structures [8].In the association thus formed, the distance between adjacent peptide chains in the β-sheet is 4.7 Å, and the distance between individual sheets is 10 Å [9].…”

mentioning

confidence: 67%

Bence-Jones protein as the form of nano-scaled β-stacked supramolecular aggregates

Voroshylova

Timchenko

Verevka

2019

Ukr. J. Nephrol. and Dial.

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Abstract. The formation in β-structured protein aggregates in tissues and fluids of the body is one of the most dangerouse complications of various diseases. The most famous of them are amyloidoses, but they such deposits are observed at other, much more widespread, diseases. The generally accepted approach to amyloids’detectionis based on high-specific coloring by Congo Red dye. However, the Abbe's diffraction limit excludes the seeing of the objects smaller than 0.61 wavelengths (about 240 nm). Such nanoscale formations are capable to disrup the functioning of surrounding tissues, to causethe complications and recurrences of the disease, and to pass through biological barriers with the following accumulation in body’s fluids. It’s likely that these conditions are the cause of the urinary congophilia, that is associated with preeclampsia at pregnancy and chronic kidney disease. Nor the less suspicious object is the Bens-Jones protein that appears in the urine at multiple myeloma and some other diseases, which are in more or less extent,are related to the disturbance of protein metabolism. The purpose of this study was to clarify the aggregate state of the Bens-Jones protein as a possible β-structured supramolecular associate. Methods.The subject of the study was the freshly received urine from a patient with multiple myeloma. The presence of the Bens-Jones protein was checked by thermopacification of the acidified sample. For control, the urine was used by a healthy person with the addition of certain amounts of human serum albumin ("Reanal", Hungary) with a concentration of 0, 0.01, 0.1 and 1%. Result. The obtained data testify to the appropriateness of such a point of view and create preresquites for the expanding of diagnostic possibilities. Conclusions.The results obtained during the study testify to the peculiarity of the structure of the Bens-Jones protein, which is nano-sized beta-structured supramolecular

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“…Clinically, our patient though was diagnosed within the first week of presentation, deteriorated rapidly, and expired. Literature shows that primary, systemic amyloidosis is a potentially fatal disease having the worst prognosis, with high mortality, whereas patients with reactive secondary amyloidosis have a relatively good prognosis (greater 5‐year survival) following treatment of the underlying condition …”

Section: Discussionmentioning

confidence: 99%

Cytological diagnosis of amyloidosis presenting as a supraclavicular swelling

Rakheja

Handa

Tahlan

et al. 2019

Diagnostic Cytopathology

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Amyloidosis is a well-recognized entity, that can present as a systemic disease, or, uncommonly, as a localized mass. We report here, a rare presentation of amyloidosis presenting as a supraclavicular swelling, diagnosed on fine-needle aspiration cytology. Subsequent bone marrow examination led to the diagnosis of multiple myeloma.This case highlights the need to be aware of cytological characteristics of amyloidosis, which can have unusual presentation posing a diagnostic dilemma.

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Immunoglobulin light chain amyloidosis: 2018 Update on diagnosis, prognosis, and treatment

Cited by 109 publications

References 151 publications

Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis

Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis

Bence-Jones protein as the form of nano-scaled β-stacked supramolecular aggregates

Cytological diagnosis of amyloidosis presenting as a supraclavicular swelling

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