Clinical Manifestations at Diagnosis in Japanese Patients with Systemic AL Amyloidosis: A Retrospective Study of 202 Cases with a Special Attention to Uncommon Symptoms

Abstract

Objective To retrospectively investigate the clinical manifestations at diagnosis in Japanese patients with systemic AL amyloidosis. Methods We reviewed the medical records of 230 Japanese patients who had visited our hospital and been diagnosed with AL amyloidosis, and abstracted those with the systemic type. The clinical data at diagnosis of systemic AL amyloidosis, including laboratory and imaging findings, were analyzed. Results Two hundred and two patients (mean, 58.7±9.5 years) were enrolled in this study. Immunofixation or immunoelectrophoresis was performed in 173 patients, 144 of whom were positive for M-protein in the serum and/or urine (κ:λ=30:114). The primary clinical manifestations at diagnosis were proteinuria and/or renal dysfunction (54.0%), congestive heart failure (24.8%), peripheral neuropathy (10.4%), hepatomegaly (7.9%) and arrhythmia (5.0%). The remaining patients developed unusual manifestations, such as solitary tumor, lymphadenopathy, gastrointestinal bleeding, intestinal pseudoobstruction, hemorrhagic tendencies and polyarthralgia. Dilatation of the intestine with marked thickening of the gastrointestinal wall on computed tomography and multiple nodular lesions with associated mucosal friability on endoscopy are characteristic findings of systemic AL amyloidosis. Conclusion The clinical pictures of Japanese patients with systemic AL amyloidosis are similar to those previously reported from the US and European nations; however, some patients with this disease develop uncommon symptoms. Conducting laboratory and histological examinations for systemic AL amyloidosis is necessary when making a differential diagnosis of these symptoms.

Systemic immunoglobulin light-chain amyloidosis presenting hematochezia as the initial symptom

“…h Amyloid deposition in the vascular wall was revealed in the lung (arrow, direct fast scarlet stain). Scale bars in a, b, d-g 400 lm; in c, h 200 lm proteinuria and/or renal dysfunction (109/202, 54.0 %), congestive heart failure (50/202, 24.8 %), peripheral neuropathy (21/202, 10.4 %), hepatomegaly (16/202, 7.9 %), and arrhythmia (10/202, 5.0 %) [6]. Five patients (2.5 %) showed GI bleeding as an initial symptom in that study.…”

Immunoglobulin Light-Chain Amyloidosis: From Basics to New Developments in Diagnosis, Prognosis and Therapy

“…1). Less common manifestations include, among others: jaw claudication [21], gastroparesis and intestinal pseudo-obstruction, polyarthralgia [22], muscle pseudohypertrophy [23], xerostomia [24] and alopecia [25]. The two most common involved organs are the kidneys and the heart (60-80% of patients in most reports).…”

Liver Transplantation Is a Potential Treatment Option for Systemic Light Chain Amyloidosis Patients with Dominant Hepatic Involvement: A Case Report and Analytical Review of the Literature

“…However, advanced organ involvement, especially cardiac involvement, occasionally limits the indications for chemotherapy and results in a poor outcome (5). We previously reported that the liver is the third most frequently affected organ after the kidney and heart in systemic AL amyloidosis (6), and clinical problems due to hepatic involvement, such as liver dysfunction and/or hepatic rupture, occasionally prevent patients from receiving effective chemotherapy (7). Therefore, liver transplantation (LT) has been applied in some patients with dominant hepatic amyloidosis as a potential therapeutic option.…”