The American Society of Hematology (ASH) released guidelines on the diagnosis of light chain (AL) amyloidosis, a rare and life-threatening disease of the bone marrow. The guidelines, published in the Society's peer-reviewed journal Blood Advances , were developed following a rigorous review process and aim to improve and accelerate diagnosis for individuals living with the disorder.
"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, ASH President. "Because this is a rare and often underrecognized disorder, these recommendations are particularly important for coordinating care and increasing awareness."
Amyloidosis is a group of rare diseases where abnormal amyloid proteins build up in tissues and organs, which can lead to organ failure and death if left untreated. Approximately 3,260 individuals are diagnosed with AL amyloidosis in the United States each year. Because its symptoms – such as fatigue, shortness of breath, and gastrointestinal upset – can be general, diagnosis typically takes about three years, during which patients may visit multiple specialists before the disease is correctly identified.
Grounded in the latest research, the guidelines were developed by a multidisciplinary expert panel as well as a patient advocate, and present 12 distinct recommendations aimed at improving the timely diagnosis of AL amyloidosis.
The guidelines support the use of blood and urine tests to assess protein and light chain (a protein made by plasma cells that circulates throughout the body) levels if a clinician suspects a patient has AL amyloidosis. They also endorse a bone marrow biopsy coupled with a fat pad sampling to diagnose the disorder, although in some cases, the guidelines advise biopsies of organs such as the heart, kidneys, or liver.
"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."
In addition to the guidelines, the panel conducted a comprehensive literature review to identify common clinical signs and symptoms of systemic amyloidosis. The review was published in Blood Advances .
The panel is currently developing follow-up guidelines outlining the treatment of AL amyloidosis.
Additional guidelines resources, including infographics, visual summaries, and teaching slides, can be accessed at hematology.org/amyloidosis-guidelines.
