Systemic Immunoglobulin Light Chain Amyloidosis–Associated Myopathy: Presentation, Diagnostic Pitfalls, and Outcome

Muchtar, Eli; Derudas, Daniele; Mauermann, Michelle; Liewluck, Teerin; Dispenzieri, Angela; Kumar, Shaji; Dingli, David; Lacy, Martha Q.; Buadi, Francis K.; Hayman, Suzanne R.; Kapoor, Prashant; Leung, Nelson; Chakraborty, Rajshekhar; Gonsalves, Wilson I.; Russell, Stephen J.; Lust, John A.; Lin, Yi; Go, Ronald S.; Zeldenrust, Steven R.; Kyle, Robert A.; Rajkumar, S. Vincent; Gertz, Morie A.

doi:10.1016/j.mayocp.2016.06.027

Cited by 48 publications

(72 citation statements)

References 17 publications

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“…About 80% of patients with AL amyloid myopathy had no prior history of systemic amyloidosis or other plasma cell dyscrasias, and nearly 70% of patients with AL amyloid myopathy had myopathy as the sole initial manifestation at disease onset. Muchtar and colleagues showed that about 40% of patients with AL amyloidosis‐associated myopathy were misdiagnosed despite undergoing muscle biopsy because Congo red staining was not performed . Based on our cohort, elderly patients who present with myopathy and dysphagia, weight loss, peripheral neuropathy or cardiomyopathy should prompt clinicians to consider a possibility of amyloid myopathy and request Congo red staining, if it is not performed routinely, in those whose biopsy findings are inconclusive.…”

Section: Discussionmentioning

confidence: 86%

Characterization of isolated amyloid myopathy

Liewluck

Milone

2017

Euro J of Neurology

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Section: Discussionmentioning

confidence: 86%

Characterization of isolated amyloid myopathy

Liewluck

Milone

2017

Euro J of Neurology

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“…Among these, amyloid muscle involvement was isolated in 11 patients (22%). Common presenting symptoms of patients with amyloid myopathy are muscle weakness, myalgia, skeletal pseudohypertrophy, dysphagia, macroglossia, jaw claudication, and hoarseness [ 2 ]. Our patient showed progressive muscle weakness of lower limbs with subsequent appearance of pain and stiffness at the shoulders and hips and jaw claudication without marked biochemical signs of muscle involvement.…”

Section: Discussionmentioning

confidence: 99%

“…In Mayo Clinic case series of biopsy-confirmed muscle AL amyloidosis, the median time from the first disease manifestations and diagnosis was 23 months [ 2 ]. Unlike other amyloid proteins, in AL amyloidosis, any organ can be affected by amyloid deposition, and well-defined criteria of organ involvement were described [ 5 , 6 ].…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Systemic AL Amyloidosis with Muscle Involvement: A Misleading Diagnosis

Accardi

Papa

Capozzi

et al. 2018

Case Reports in Hematology

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Muscle involvement in AL amyloidosis is a rare condition, and the diagnosis of amyloid myopathy is often delayed and underdiagnosed. Amyloid myopathy may be the initial manifestation and may precede the diagnosis of systemic AL amyloidosis. Here, we report the case of a 73-year-old man who was referred to our center for a monoclonal gammopathy of undetermined significance (MGUS) diagnosed since 1999. He reported a progressive weakness of proximal muscles of the legs with onset six months previously. Muscle biopsy showed mild histopathology featuring alterations of nonspecific type with a mixed myopathic and neurogenic involvement, and the diagnostic turning point was the demonstration of characteristic green birefringence under cross-polarized light following Congo red staining of perimysial vessels. Transmission electron microscopy (TEM) confirmed amyloid fibrils around perimysial vessels associated with collagen fibrils. A stepwise approach to diagnosis and staging of this disorder is critical and involves confirmation of amyloid deposition, identification of the fibril type, assessment of underlying amyloidogenic disorder, and evaluation of the extent and severity of amyloidotic organ involvement.

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“…Для AL-амилоидоза типично также поражение мускулатуры верхних отделов дыхательных путей, глотки, проявляющееся дисфагией и дисфонией [19].…”

Section: с о в р е м е н н а я к л а с с и ф и к а ц и я а м и л о и unclassified

Peripheral nervous system involvement in systemic amyloidosis

Safiulina

Zinovyeva

Рамеев

et al. 2018

Nevrologiâ, nejropsihiatriâ, psihosomatika

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Peripheral nervous system involvement may be a main manifestation of systemic amyloidosis or occur in the later stages of the disease in the presence of multiple organ pathology. Focal, multiple mononeuropathy, radiculopathy, polyneuropathy, autonomic nervous system dysfunction, and myopathy develop depending on the localization of amyloid deposits in the peripheral nervous system. The most characteristic symptom in systemic amyloidosis is sensorimotor polyneuropathy accompanied in most cases by the involvement of autonomic nerve fibers in the pathological process. In cases of systemic amyloidosis, peripheral nervous system involvement is progressive, leading to disability, which makes the early diagnosis of the disease and its neurological manifestations and subsequent pathogenetic therapy relevant.

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Systemic Immunoglobulin Light Chain Amyloidosis–Associated Myopathy: Presentation, Diagnostic Pitfalls, and Outcome

Cited by 48 publications

References 17 publications

Characterization of isolated amyloid myopathy

Characterization of isolated amyloid myopathy

A Rare Case of Systemic AL Amyloidosis with Muscle Involvement: A Misleading Diagnosis

Peripheral nervous system involvement in systemic amyloidosis

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