Rationale: Muscle pseudohypertrophy is a rare manifestation of light chain amyloidosis (AL) amyloidosis. Patient concerns: A 63-year-old woman presented with a 2-year history of progressive asthenia, macroglossia, dysphonia, cachexia, hypotension, paresthesia, and lower limb muscle hypertrophy. Diagnosis: Free 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 outcomes: The patient received 3 subsequent lines of therapy over the following 23 months, with very slow hematological remission followed by resolution of organ dysfunction. Lessons: Despite 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.

Background/Objectives: Light-chain amyloidosis (AL Amyloidosis) is a rare systemic plasma cell disorder in which misfolded light chains form amyloid fibrils that damage vital organs. Diagnosis is often delayed because of variable presentation and overlap with other plasma cell diseases. Methods: We retrospectively analyzed 23 patients diagnosed between 2022 and 2025 at the Fundeni Clinical Institute. All cases underwent free light-chain testing, serum immunofixation, immunohistochemistry, and bone marrow analysis. Since 2022, next-generation flow cytometry (NGF) has been applied to detect clonal plasma cells and characterize their immunophenotype. Results: NGF confirmed clonality in 21 of 23 patients (91.3%), including two cases undetected by conventional assays. Serum immunofixation was positive in 69.6% and immunohistochemistry in 78.3%. Among clonal cases, λ restriction predominated (71.4%). Detection was highest when NGF was combined with standard methods, especially in patients with dFLC < 100, where negative immunofixation was more frequent (p = 0.027). Conclusions: Multiparameter flow cytometry (MFC) provides highly sensitive detection of small clonal plasma cell populations often missed by standard assays, offering a valuable tool for early and accurate diagnosis of low-burden plasma cells in AL amyloidosis. Integrating MFC into routine evaluation improves diagnostic accuracy, identifies overlooked clonal populations, and supports earlier, more informed clinical decisions.

Aim: This study evaluates hematologic responses in AL amyloidosis patients receiving first-line Daratumumab therapy with two regimens: D-VCD and DRD. DRD was preferred for patients with severe neurological involvement and those diagnosed before January 2023, when D-VCD was reimbursed in Romania. Methods: Between January 2021 and December 2023, 38 patients were treated with Daratumumab at Fundeni Clinical Institute, Romania: 23 with D-VCD and 15 with DRD. Results: The median age at diagnosis was 61.5 years. 65% of patients had ≥3 organ involvement. At 2 months, 88.2% of D-VCD patients reached ≥VGPR vs. 33.3% of DRD patients (p=0.010). In the DRD group, 55.5% and 75% reached ≥VGPR at 6 and 12 months, respectively. Six patients underwent ASCT, all in the D-VCD group, and have maintained ≥VGPR. No significant survival differences were noted between groups. Conclusions: DRD achieves significant hematologic responses at 6 and 12 months and may be a suitable firstline option for patients with severe neurological involvement.

Background: Bisphosphonate scintigraphy (BS) is a recognized tool for diagnosing amyloid transthyretin cardiomyopathy (ATTR-CA). However, its sensitivity for rare transthyretin (TTR) variants, like Glu54Gln, remains underexplored. Methods: This was a retrospective descriptive study including all known patients with the Glu54Gln variant diagnosed between 2017 and 2023 in Romania, aiming to evaluate the diagnostic performance of BS in Glu54Gln ATTR–CA. Results: All symptomatic patients (n = 22) with histologically confirmed ATTR-CA had positive BS results (100% sensitivity). No false negatives were observed in asymptomatic carriers (n = 4). The Perugini visual score correlated with disease severity, with grade 3 scores associated with advanced cardiac involvement. We proposed a new parameter, heart-to-liver-uptake (H/L) ratio, which proved a strong positive correlation with both the heart-to-contralateral-uptake (H/CL) ratio (R² = 0.768, p < 0.001) and interventricular septum thickness (R² = 0.584, p < 0.001) and a weak correlation with the global longitudinal strain (R² = 0.212, p = 0.023). Conclusions: BS demonstrates high diagnostic accuracy for Glu54GlnATTR-CA, underscoring its utility in early diagnosis and clinical management. The H/L ratio presents a novel approach to semiquantitative analysis of bisphosphonate uptake in cardiac amyloidosis, potentially addressing key limitations of the traditional H/CL ratio.

Multiple myeloma is a malignant disease, which consists of the clonal proliferation of plasma cells that will lead to the accumulation of a monoclonal protein in the serum and/or urine, with organic damage. Extramedullary involvement is found in approximately 5% of cases of myeloma. Multiple myeloma with determination in the central nervous system is extremely rare and is associated with a bad prognosis. A targeted treatment scheme for this complication is not described, but the therapeutic approach should follow the same steps as in the case of other lymphoproliferative diseases with neurological involvement ( association of intrathecal chemotherapy applications cytarabine and methotrexate, with systemic treatment and depending on the response local radiotherapy should be performed). The occurrence of extramedullary disease in the evolution of multiple myeloma is a complication associated with a poor prognosis.

Background and Objectives: Amyloidosis is a disorder characterized by the abnormal folding of proteins, forming insoluble fibrils that accumulate in tissues and organs. This accumulation disrupts normal tissue architecture and organ function, often with serious consequences, including death if left untreated. Light-chain amyloidosis (AL) and hereditary transthyretin-type amyloidosis (hATTR) are two of the most common types. In amyloidosis, peripheral nervous system involvement is a significant diagnostic feature, particularly when it manifests as polyneuropathy, carpal tunnel syndrome (CTS), and dysautonomia. These neurological symptoms often point to the involvement of amyloid deposits in the peripheral and autonomic nervous systems, which can help identify and differentiate between the various types of amyloidosis. Materials and Methods: This retrospective study focused on the evolution of electrophysiological parameters in two groups: AL (n = 22) and hATTR-Glu54Gln patients (n = 14), with mixed axonal polyneuropathy. Patients were followed for two consecutive years to assess disease progression. The PND scale (polyneuropathy disability) was also used to assess motor impairment for each patient. Results: In our study AL amyloidosis patients presented with mixed, axonal polyneuropathy associated with CTS in 63.6% of cases and cardiomyopathy (45.5%). Serial EMGs (electromyography) showed decreased motor amplitudes of the common peroneal and tibial nerves and sensory amplitude of the superficial peroneal nerve, with mostly preserved conduction velocities. The patients maintained stage I PND throughout the monitoring period. The entire hATTR group displayed mixed, axonal polyneuropathy and cardiomyopathy; 85.7% of them had CTS, and 42.9% had orthostatic hypotension. EMG data showed decreased motor amplitudes of the tibial and common peroneal nerves, decreased sensory amplitudes of the superficial peroneal nerve, and mildly reduced conduction velocities, with significant progression at 12 and 24 months. The patients displayed additional reduced muscle strength, some reaching stage 3A and 3B-PND at the end of the study. Conclusions: The amyloidotic polyneuropathy found in the groups was similar in its axonal, sensory-motor, and length-dependent characteristics, but the study showed significant differences in its progression, with more abrupt changes in the hATTR-Glu54Gln group. The amyloidosis AL patients remained in stage 1 PND, while the hATTR-Glu54Gln patients progressed to stage 3 PND at 24 months.