Amyloidosis: diagnosis and management
Morie A Gertz1, Martha Q Lacy, Angela Dispenzieri
1Division of Hematology, Mayo Clinic, Rochester, Minnesota 55905, USA. gertm@mayo.edu
Abstract:
Amyloidosis is a rare plasma cell proliferative disorder. The annual incidence in Olmsted County, Minnesota, is 8 in 1,000,000 patients. This is a difficult disorder to diagnose, because the symptoms at presentation are vague and include dyspnea, paresthesias, edema, weight loss, and fatigue. The clinical syndromes at the time of presentation include nephrotic-range proteinuria with or without renal failure, cardiomyopathy, "atypical multiple myeloma," hepatomegaly, and autonomic or peripheral neuropathy. The serum immunoglobulin free light chain assay has been an important step forward in classifying systemic amyloidosis as an immunoglobulin light chain form and in monitoring therapy. Recently, the importance of serum cardiac biomarkers in assessing outcome has been recognized. New therapies developed over the past 5 years include high-dose chemotherapy with stem cell reconstitution, combinations of alkylating agents with dexamethasone, and, most recently, thalidomide.
Insights
Amyloidosis is a rare plasma cell disorder with vague symptoms, making diagnosis challenging. Advances include serum free light chain assays and new therapies like chemotherapy and thalidomide.
Area of Science:
- Hematology
- Oncology
- Nephrology
Background:
- Amyloidosis is a rare plasma cell disorder with an incidence of 8 in 1,000,000.
- Symptoms are often vague, including dyspnea, edema, and fatigue, complicating diagnosis.
- Clinical presentations range from nephrotic syndrome to cardiomyopathy and neuropathy.
Purpose of the Study:
- To review the diagnostic challenges and recent therapeutic advancements in amyloidosis.
- To highlight the role of serum immunoglobulin free light chain assays in classification and monitoring.
- To discuss the significance of cardiac biomarkers and novel treatment strategies.
Main Methods:
- Review of clinical presentations and diagnostic workup for amyloidosis.
- Evaluation of the utility of serum immunoglobulin free light chain assays.
- Assessment of emerging therapies, including high-dose chemotherapy and thalidomide.
Main Results:
- Serum free light chain assay aids in classifying amyloidosis and monitoring treatment.
- Cardiac biomarkers are increasingly recognized for outcome assessment.
- Recent therapies show promise in managing this complex disorder.
Conclusions:
- Amyloidosis diagnosis requires a high index of suspicion due to nonspecific symptoms.
- Advancements in diagnostics and therapeutics are improving patient outcomes.
- Multidisciplinary approaches are crucial for effective amyloidosis management.
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