Progressive and atypical neurological symptoms in refractory systemic AL amyloidosis
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IM - CASE RECORD
Progressive and atypical neurological symptoms in refractory systemic AL amyloidosis Federico Perfetto1 · Silvia Casagrande2 · Alessandro Barilaro2 · Massimo Di Gioia1 · Raffaella Santi3 · Marco Allinovi1,4 · Stefano Romoli5 · Andrea Boschi5 · Ilaria Desideri6 · Giulia Taborchi1 · Andrea Ungar8 · Francesco Cappelli1,7 Received: 18 May 2020 / Accepted: 1 September 2020 © Società Italiana di Medicina Interna (SIMI) 2020
Case presentation
Tuscan Regional Amyloid Center, Careggi University Hospital, Florence, Italy
2
Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Largo Brambilla 3, 50134 Florence, Italy
evident “shoulder pad” sign (Fig. 1) associated with shoulder disability. A synovial biopsy was performed and histology demonstrated amyloid deposition in periarticular soft tissues. Baseline laboratory data showed a free light chain (FLC) k monoclonal peak at serum immunoelectrophoresis, with a FLC k 1756 mg/L (normal range 3.3–19.4 ng/L), λ 10.4 mg/L (normal range 5.7–26.3 mg/L), dFLC 1745.6 mg/L and a Bence–Jones of 1250 mg/24 h. Serum creatinine was 0.99 mg/dL (normal range 0.48–1.03 mg/dL) with an eGFR of 78 mL/min (calculated with CKD-EPI formula), no proteinuria at 24-h urine analysis was detected. An abdominal fat aspiration confirms the diagnosis of amyloidosis and typing of amyloid deposition showed kappa lightchain-derived fibrils. The bone marrow biopsy showed 35% k-chain restricted clonal plasma cells. Fluorescence in situ hybridation (FISH) identified t(11; 14)(13q32q)/IGHCCND1 in 58% of pathological cells. Full-body positron emission tomography with 18-F fluorodeoxyglucose (FDGPET) showed increased uptake in the humerus bilaterally and in left femur, although these findings were suggestive of inflammatory origins. The diagnosis was AL amyloidosis with bilateral shoulders infiltration and bilateral CTS in patient with multiple myeloma (MM) harboring IGH/ CCND1 translocation.
3
Pathological Anatomy Unit, Careggi University Hospital, Florence, Italy
MD Federico Perfetto (Internist)
4
Nephrology Unit, Careggi University Hospital, Florence, Italy
5
Unit of Spine Surgery, Careggi University Hospital, Florence, Italy
6
Neuroradiology Unit, Careggi University Hospital, Florence, Italy
7
Interventional Structural Cardiology Division, Careggi University Hospital, Florence, Italy
8
Syncope Unit, Geriatric Intensive Care Medicine, Hypertension Centre, Careggi University Hospital, University of Florence, Florence, Italy
MD Federico Perfetto (Internist), MD Massimo Di Gioia (Haematologist), MD Marco Allinovi (Neprhologist) On October 2016, a 68-year-old Caucasian man, with a recent history of bilateral carpal tunnel syndrome (CTS), was referred to Tuscan Referral Center for Amyloidosis due to a 6-month history of pain and enlargement of his anterior right shoulder. His past medical history was positive for chronic hepatitis virus B infection in treatment with Entecavir and undetectable HBV DNA by PCR assay and chronic gastri
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