Resumo
Objetivo: Descrever um caso de amiloidose AL com envolvimento ocular, analisando suas manifestações clínicas, exames complementares e manejo terapêutico. Detalhamento de caso: Paciente do sexo feminino, 52 anos, com diagnóstico prévio de amiloidose AL, em tratamento quimioterápico, apresentou baixa acuidade visual progressiva e epífora há um ano e nove meses. Relatava piora dos sintomas, acompanhada de edema palpebral, macroglossia e dispneia. Ao exame, evidenciava-se restrição de mobilidade ocular bilateral (“olhar congelado”), além de edema periorbitário e hematoma no olho direito. A tomografia computadorizada revelou espessamento dos músculos retroorbitários bilaterais. Exames laboratoriais indicaram proteinúria aumentada e presença de cadeias leves lambda na imunofixação urinária. A paciente recebeu acompanhamento multidisciplinar, incluindo suporte clínico e ajustes terapêuticos para manejo dos sintomas. Considerações finais: O envolvimento ocular na amiloidose AL é uma manifestação relevante, podendo comprometer a função visual e a qualidade de vida dos pacientes. A identificação precoce e o acompanhamento multidisciplinar são essenciais para o controle dos sintomas e prevenção de complicações. O presente caso destaca a importância da avaliação oftalmológica detalhada e do manejo adequado da amiloidose, enfatizando a necessidade de maior conscientização sobre suas manifestações sistêmicas e oftalmológicas.
Referências
ALEHASHEMI S, et al. Anakinra‐Associated Systemic Amyloidosis. Arthritis & Rheumatology, 2024; 76(1): 100–106.
ANAND SK, et al. Systemic Amyloidosis and Kidney Transplantation: An Update. Seminars in Nephrology, 2024; 44(1): 151496.
BERENDS M, et al. Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review. International Journal of Molecular Sciences, 2024; 25(7): 3770.
BOU ZERDAN M, et al. Systemic AL amyloidosis: current approach and future direction. Oncotarget, 2023; 14(1): 384–394.
COHEN OC, WECHALEKAR AD. Systemic amyloidosis: moving into the spotlight. Leukemia, 2020; 34(5): 1215–1228.
CUDDY SAM, FALK RH. Amyloidosis as a Systemic Disease in Context. Canadian Journal of Cardiology, 2020; 36(3): 396–407.
D’AGUANNO V, et al. Systemic Amyloidosis: a Contemporary Overview. Clinical Reviews in Allergy & Immunology, 2020; 59(3): 304–322.
DONNELLY JP, et al. Carpal Tunnel Syndrome: A Potential Early, Red-Flag Sign of Amyloidosis. The Journal of Hand Surgery, 2019; 44(10): 868–876.
DORBALA S, KIJEWSKI MF. Molecular Imaging of Systemic and Cardiac Amyloidosis: Recent Advances and Focus on the Future. Journal of Nuclear Medicine, 2023; 64(Suppl 2): 20S–28S.
FALK RH, et al. AL (Light-Chain) Cardiac Amyloidosis. Journal of the American College of Cardiology, 2016; 68(12): 1323–1341.
FEITOSA VA, et al. Renal amyloidosis: a new time for a complete diagnosis. Brazilian Journal of Medical and Biological Research, 2022; 55(1): 1–30.
GEORGIN-LAVIALLE S, GRATEAU G. Aspects cliniques des amyloses systémiques en 2024. Annales de Pathologie, 2024; 44(6): 407–413.
GODARA A, PALLADINI G. Monoclonal Antibody Therapies in Systemic Light-Chain Amyloidosis. Hematology/Oncology Clinics of North America, 2020; 34(6): 1145–1159.
KAKU M, BERK JL. Neuropathy Associated with Systemic Amyloidosis. Seminars in Neurology, 2019; 39(5): 578–588.
KARAM S, et al. Renal AA amyloidosis: presentation, diagnosis, and current therapeutic options: a review. Kidney International, 2023; 103(3): 473–484.
LEIBOVITCH I, et al. Periocular and orbital amyloidosis: clinical characteristics, management, and outcome. Ophthalmology, 2006; 113(9): 1657–1664.
MUCHTAR E, et al. Systemic amyloidosis from A (AA) to T (ATTR): a review. Journal of Internal Medicine, 2021; 289(3): 268–292.
MUCHTAR E, et al. Graded Cardiac Response Criteria for Patients With Systemic Light Chain Amyloidosis. Journal of Clinical Oncology, 2023; 41(7): 1393–1403.
NAMIRANIAN D, GEISLER S. Neuromuscular Complications of Systemic Amyloidosis. The American Journal of Medicine, 2022; 135(1): S13–S19.
NICOL M, et al. Thromboembolism and bleeding in systemic amyloidosis: a review. ESC Heart Failure, 2022; 9(1): 11–20.
PEREIRA IA, et al. Uncovering the knowledge about systemic amyloidosis relevant to the rheumatologists. Advances in Rheumatology, 2024; 64(1): 71.
PICKEN MM. The Pathology of Amyloidosis in Classification: A Review. Acta Haematologica, 2020; 143(4): 322–334.
RUBERG FL, MAURER MS. Cardiac Amyloidosis Due to Transthyretin Protein. JAMA, 2024; 331(9): 778.
SANCHORAWALA V, et al. Guidelines for high dose chemotherapy and stem cell transplantation for systemic AL amyloidosis: EHA-ISA working group guidelines. Amyloid, 2022; 29(1): 1–7.
SANCHORAWALA V. Systemic Light Chain Amyloidosis. New England Journal of Medicine, 2024; 390(24): 2295–2307.
VAXMAN I, GERTZ M. When to Suspect a Diagnosis of Amyloidosis. Acta Haematologica, 2020; 143(4): 304–311.
VEELKEN K, et al. Lokale und systemische Leichtkettenamyloidosen bei Patienten mit rheumatologischen Erkrankungen. Zeitschrift für Rheumatologie, 2020; 79(7): 660–668.
WECHALEKAR AD, et al. Guidelines for non-transplant chemotherapy for treatment of systemic AL amyloidosis: EHA-ISA working group. Amyloid, 2023; 30(1): 3–17.
WECHALEKAR AD, et al. Systemic amyloidosis. The Lancet, 2016; 387(10038): 2641–2654.
