Mass spectrometry-based proteomics in clinical practice amyloid typing: state-of-the-art from a French nationwide cohort

Colombat, Magali; Gaspard, Margot; Camus, Mylène; Dalloux-Chioccioli, Jessica; Delas, Audrey; Poullot, Elsa; Moktefi, Anissa; Audigier, François; Moreau, Philippe; Gibier, Jean-Bapiste; Raynaud, P; Huart, Antoine; Piedrafita, Alexis; Gilhodes, Julia; Lairez, Olivier; Grateau, Gilles; Georgin‐Lavialle, Sophie; Maisonneuve, Hervé; Moreau, Philippe; Jaccard, Arnaud; Bridoux, Frank; Planté‐Bordeneuve, Violaine; Damy, Thibaud; Mal, Hervé; Brousset, Pierre; Valleix, Sophie; Burlet‐Schiltz, Odile

doi:10.3324/haematol.2022.281431

Cited by 7 publications

(2 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Therefore, in any incidental or targeted subcutaneous amyloid finding, immunohistochemistry or immunofluorescence aimed at exact amyloid classification should be performed. Alternatively, amyloid typing may be performed by laser microdissection from FFPE tissue and mass spectrometry-based proteomic analysis [29], as several amyloid types including insulin have been described [30]. In the case of amyloidosis verified in the tissue sample, the localized amyloidosis may be distinguished from systemic involvement by 18 F-fluorodeoxyglucose positron emission tomography/computed tomography [31].…”

Section: Discussionmentioning

confidence: 99%

Localized Insulin-Derived Amyloidosis in Diabetes Mellitus Type 1 Patient: A Case Report

et al. 2023

View full text Add to dashboard Cite

Localized insulin-derived amyloidosis (LIDA) is a rare local complication of subcutaneous insulin application occurring in patients with diabetes type 1 and 2. A 45-year-old woman with an 11-year history of insulin-dependent diabetes mellitus type 1 underwent a mini-abdominoplasty and excision of a long-standing palpable mass in left hypogastric subcutaneous tissue in the area of long-term insulin application. Histopathological examination revealed insulin amyloidosis as a substrate of the mass lesion. Several months after surgery, there was a transient improvement in previously poor diabetes compensation. In addition to local allergic reactions, abscess formation, scarring, lipoatrophy/dystrophy, and lipohypertrophy, LIDA broadens the differential diagnostic spectrum of local insulin injection complications. LIDA has been described as a cause of poor glycemia compensation, probably due to the conversion of soluble insulin into insoluble amyloid fibrils, which prevents insulin from circulating in the blood and regulating glucose blood concentration. Improvement in diabetes compensation has been described in several reports, including our case. LIDA is a rare local complication of subcutaneous insulin application; accurate diagnosis and treatment have clinical consequences. Immunohistochemical or immunofluorescence distinction from other amyloid types is highly recommended.

show abstract

Section: Discussionmentioning

confidence: 99%

Localized Insulin-Derived Amyloidosis in Diabetes Mellitus Type 1 Patient: A Case Report

et al. 2023

View full text Add to dashboard Cite

show abstract

“…Definitive characterisation of the amyloid type using immunohistochemistry or mass spectrometry is a prerequisite for effective therapy (recommendation 1.2); however, less than half of the HCP voting panel considered this to be a core part of current care, while almost one-third of HCPs commented that this is achievable with available resources. Although mass spectrometry is now considered the gold standard for amyloid typing, 41 42 the availability of tests will depend on local resources, and tissue samples may need to be sent to specialised laboratories if in-house facilities are not available.…”

Section: Discussionmentioning

confidence: 99%

Consensus recommendations on holistic care in hereditary ATTR amyloidosis: an international Delphi survey of patient advocates and multidisciplinary healthcare professionals

Obici,

Callaghan,

Ablett

et al. 2023

BMJ Open

View full text Add to dashboard Cite

BackgroundHereditary transthyretin-mediated amyloidosis is a rare, progressive and potentially life-limiting multisystem disease, affecting every aspect of a patient’s life.ObjectivesThis online international Delphi survey aimed to evolve clinical−patient-led practical guidance, to inspire and encourage a holistic approach to care that is managed in specialist settings by multidisciplinary teams and supported by allied healthcare professionals (HCPs) and patient advocacy groups (PAGs).DesignA 14-member joint patient advocate−HCP primary panel was convened including representation from PAGs and key clinical specialties (neurology, cardiology, internal medicine, physiotherapy, clinical psychology, dietetics and specialist nursing). Guidance evolved on the care provision needed to support seven core goals: early diagnosis and treatment; disease monitoring and organisation of care; maintenance of physical and mental health; family-centred care and caregiver support; patient−doctor dialogue; access to social support and social networking.ParticipantsFrom June to October 2022, 252 HCPs and 51 PAG representatives from 27 countries were invited to participate in a Delphi survey. Of the 122 respondents who answered at least one survey question, most were HCPs (100, 82%) from specialist centres; the remainder were PAG representatives (22, 18%).Main outcome measureBoth level of agreement and feasibility in practice of each recommendation was tested by two anonymised online Delphi voting rounds.ResultsBased on an a priori threshold for consensus of ≥75% agreement, the clinical–patient community endorsed all but one recommendation. However, only 17/49 (35%) recommendations were identified by most HCPs as a core part of routine care; the remainder (32/49 (65%)) were identified as part of core care by <50% of HCPs respondents, or as largely achievable by 30%–45% of HCPs. By comparison, PAGs recorded lower implementation levels.ConclusionsFurther consideration is needed on how to evolve multidisciplinary services (supported by allied HCPs and PAGs) to address the complex needs of those affected by this disease.

show abstract

Changes in amyloidosis phenotype over 11 years in a cardiac amyloidosis referral centre cohort in France

Damy,

Zaroui,

de Tournemire

et al. 2023

Archives of Cardiovascular Diseases

View full text Add to dashboard Cite

Mass spectrometry-based proteomics in clinical practice amyloid typing: state-of-the-art from a French nationwide cohort

Abstract: Not available.

Cited by 7 publications

References 15 publications

Localized Insulin-Derived Amyloidosis in Diabetes Mellitus Type 1 Patient: A Case Report

Localized Insulin-Derived Amyloidosis in Diabetes Mellitus Type 1 Patient: A Case Report

Consensus recommendations on holistic care in hereditary ATTR amyloidosis: an international Delphi survey of patient advocates and multidisciplinary healthcare professionals

Changes in amyloidosis phenotype over 11 years in a cardiac amyloidosis referral centre cohort in France

Contact Info

Product

Resources

About