Amyloid Light-Chain (AL) Amyloidosis in a Middle-Aged Lady: Confronting the Challenges of a Rare Diagnosis in a Developing Country

Published: Jun 07, 2025
Category
Patient Education
Key Information
Source
Cureus
Year
2025
summary/abstract

Abstract

Amyloid light-chain (AL) amyloidosis, which results from monoclonal light-chain deposition from plasma cell dyscrasia, is often identified in old patients. A 37-year-old lady presented with frothy urine and constipation with constitutional symptoms for two months duration. On examination, she had tender hepatomegaly with cervical lymphadenopathy. She was found to have sub-nephrotic-range proteinuria, while serum protein electrophoresis revealed a monoclonal band of 17 g/l. Bone marrow aspiration and biopsy showed evidence of plasma cell dyscrasia with 20% of pleomorphic plasma cells. Myeloma-defining events were negative with normal serum calcium and serum creatinine, a haemoglobin of 10.5 g/dl, no lytic lesions on low-dose whole-body computed tomography, and involved-to-uninvolved serum free light-chain ratio of 8 with involved lambda light chains of 126.21 mg/l (4.23-27.69). Renal and lymph node biopsies demonstrated an eosinophilic amorphous material which showed apple-green birefringence on a Congo red stain suggestive of amyloidosis. Bone marrow aspiration, trephine biopsy, and lymph node biopsy together with renal biopsy led to the diagnosis of AL amyloidosis. She was classified as a stage 1 disease according to the Revised Mayo Clinic staging system. She was treated with a total of nine cycles of cyclophosphamide, bortezomib, and dexamethasone (CycloBorDex), where she achieved a very good partial response as a haematological response and an improvement in 24-hour urine protein excretion as an organ response. This was followed by an autologous bone marrow transplant in the transplant centre. Six months after the bone marrow transplant, it showed a slight progression of disease with an increased difference between involved and uninvolved free light chain (dFLC) with raised 24-hour urinary excretion for which we are planning to restart chemotherapy cycles with VRD (bortezomib-lenalidomide-dexamethasone) as daratumumab is not affordable in our country. Despite the low incidence of AL amyloidosis before the age of 40, this case highlights the monoclonal gammopathy workup in patients with high clinical suspicion, regardless of age. Targeted biopsies should be performed to confirm the diagnosis and start the treatment early to prevent organ failure. Despite the early diagnosis and treatment of AL amyloidosis with conventional chemotherapy, limited accessibility to optimum treatment options in disease progression is a major drawback in managing patients in developing countries.

Introduction

Immunoglobulin amyloid light-chain (AL) amyloidosis is a clonal plasma cell disorder in which fragments of immunoglobulin light chain or heavy chain are deposited in tissues [1]. According to the global epidemiological data, the majority of AL amyloidosis patients are over 65 years old [2], while few case reports describe amyloidosis at a young age of onset [3]. Even though most of the patients are presented in their seventh decade of life, progression would have happened for several years of its onset [4]. The majority of patients get dominant renal involvement, predominantly a glomerular lesion causing nephrotic syndrome giving rise to generalized oedema [5]. Cardiac involvement usually indicates the advanced stage of disease which has a high risk of death within a few months. However, symptoms are always preceded by detectable monoclonal gammopathy and by elevated biomarkers of organ involvement. Detection of monoclonal gammopathy with early diagnosis and management of amyloidosis will prevent progression into major organ failures. Our patient was diagnosed with AL amyloidosis at 37 years of age with sub-nephrotic-range proteinuria without major organ failures. She was treated with chemotherapy, where she achieved a very good partial response (VGPR) as a haematological response and an improvement in organ response, and then followed by an autologous stem cell transplantation (ASCT). So, with this case scenario, we present the treatment journey of a young amyloid patient, highlighting the importance of evaluating for amyloidosis when clinically indicated, even at young ages. It also emphasizes the obstacles in treating a rare disorder in a resource-poor setting.

Organisation
Chathurma Piyarathna, Yenifa Samaraweera, Nishadya Ranasinghe, Lakeesha Piyasundara, Mohomed, Mujahieth