The American Society of Hematology (ASH) has released clinical practice guidelines on the diagnosis of light chain (AL) amyloidosis, which were published in Blood Advances. Additionally, the expert panel behind the guidelines also published a scoping review about the clinical features of systemic amyloidosis, which was also published in Blood Advances.
“These guidelines will be a valuable resource not only for hematologists, but for clinicians across other specialties who care for patients with AL amyloidosis,” said Robert Negrin, MD, President of ASH. “Because this is a rare and often under-recognized disorder, these recommendations are particularly important for coordinating care and increasing awareness.”
Together, the guidelines and review seek to fill a critical gap in the understanding of AL amyloidosis and how to identify and diagnosis the disease.
More About AL Amyloidosis and the Guidelines
AL amyloidosis is a rare and life-threatening disease of the bone marrow that is often characterized by a high symptom burden. The disease is caused by the misfolding of immunoglobulin light chains that are produced by a dyscrasia of the plasma cells, and it can impact many organs. Diagnosis of AL amyloidosis can often be challenging due to the various, nonspecific symptoms associated with the disease, leading to greater morbidity and mortality.
ASH formed a multidisciplinary panel of 22 medical specialty experts and 1 patient representative to form the guidelines. The panel was carefully chosen to avoid potential bias from imbalances. They used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach to assess the available clinical evidence and make diagnosis recommendations, which were made available for public comments.
The guidelines present 12 recommendations for the timely diagnosis of AL amyloidosis, including testing for serum immunofixation, urine immunofixation, and serum free light chains. Additionally, the guidelines' authors highlight the use of surrogate biopsies with bone marrow biopsies or fat pad sampling to make the diagnosis, but stress that target organ biopsies may be necessary in certain clinical scenarios.
“For these patients, time is of the essence,” said Vishal Kukreti, MD, Chair of the ASH Guidelines on Diagnosis of Light Chain Amyloidosis and a malignant hematologist at Princess Margaret Cancer Centre. “These guidelines will help clinicians across disciplines think of this disease in the right scenarios and provide them the necessary tools to obtain a clear, accurate diagnosis as quickly as possible.”
Follow-up guidelines on the treatment of patients with AL amyloidosis are already being developed.
About the Literature Review
The panel also conducted a thorough scoping literature review to identify common symptoms and signs of the disease. They analyzed 117 studies of AL and transthyretin amyloidosis for characteristics of the diseases.
They found that shortness of breath and fatigue are among the earliest symptoms of AL amyloidosis, while carpal tunnel syndrome is one of the earliest symptoms for ATTR wild-type cardiac amyloidosis. Neuropathic presentations include sensory loss in AL amyloidosis and length-dependent neuropathy for ATTR-variant amyloidosis.
Greater awareness of the patterns of the disease subtypes can help support earlier diagnosis and intervention for patients with AL and ATTR amyloidosis, concluded the panel.
DISCLOSURE: For more ASH guidelines and full disclosures of the study authors, visit ashpublications.org.
