• Medicine · Dec 2021

    Case Reports

    Muscle involvement with pseudohypertrophy in systemic light chain amyloidosis: Case report.

    • Mirela Draghici, Andreea Jercan, Sorina Nicoleta Badelita, Ruxandra Maria Irimia, Alexandra Eugenia Bastian, Camelia Dobrea, Monica Popescu, and Daniel Coriu.
    • Fundeni Clinical Institute, Bucharest, Romania.
    • Medicine (Baltimore). 2021 Dec 23; 100 (51): e28267e28267.

    RationaleMuscle pseudohypertrophy is a rare manifestation of light chain amyloidosis (AL) amyloidosis.Patient ConcernsA 63-year-old woman presented with a 2-year history of progressive asthenia, macroglossia, dysphonia, cachexia, hypotension, paresthesia, and lower limb muscle hypertrophy.DiagnosisFree serum lambda light chains were increased, and fat pad biopsy demonstrated Congo red-positive deposits. Additionally, electromyography showed a myopathic pattern, whereas muscle biopsy revealed amyloid deposits. A diagnosis of λAL with cardiac, renal, nervous system, and skeletal muscle involvement was established.Interventions And OutcomesThe patient received 3 subsequent lines of therapy over the following 23 months, with very slow hematological remission followed by resolution of organ dysfunction.LessonsDespite its rarity, muscle involvement should be considered in patients diagnosed with AL amyloidosis associated with unexplained muscle hypertrophy or weakness associated with macroglossia or elevated troponin T levels in the absence of clear cardiac involvement.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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