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Cardiac amyloidosis: An update on diagnosis and treatment

December 1, 2017|Cleveland Clinic Journal of Medicine
Joseph P. Donnelly, MD;Mazen Hanna, MD
Author and Disclosure Information

Joseph P. Donnelly, MD
Department of Cardiovascular Medicine, Heart and Vascular Institute, Cleveland Clinic

Mazen Hanna, MD
Department of Cardiovascular Medicine, Heart and Vascular Institute, Cleveland Clinic

Correspondence: Mazen Hanna, MD, Department of Cardiovascular Medicine, Heart and Vascular Institute, J3-4, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195; hannam@ccf.org

Dr. Donnelly reported no financial interests or relationships that pose a potential conflict of interest with this article. Dr. Hanna reported that he served on a one-time advisory panel for Ionis Pharmaceuticals.

ABSTRACT

Cardiac amyloidosis (CA), once thought to be a rare disease, is increasingly recognized due to enhanced clinical awareness and better diagnostic imaging. CA is becoming of heightened interest to the cardiology community given more effective treatment strategies for light chain amyloidosis (AL), as well as emerging therapies for transthyretin amyloidosis (ATTR). Furthermore, reversing amyloid deposition in affected organs using monoclonal antibodies is actively being tested in clinical trials. A high index of suspicion and a systematic approach to the diagnosis of CA can lead to referral to a center of expertise for timely treatment.

KEY POINTS

  • AL and ATTR are the 2 main types of amyloidosis that affect the heart.
  • Serum and urine protein electrophoresis are inadequate laboratory tests to screen for AL given low sensitivity, and should be replaced by the serum free light chain assay as well as immunofixation of the serum and urine.
  • AL cardiac amyloidosis (AL-CA) requires timely diagnosis and referral to hematology due to high mortality without prompt treatment.
  • 99mTechnetium pyrophosphate bone scintigraphy is an affordable, noninvasive tool that has revolutionized the diagnosis of ATTR cardiac amyloidosis (ATTR-CA).
  • The US Food and Drug Administration will likely approve new therapies for ATTR in late 2018.

CONCLUSION

The diagnosis of CA requires a high index of suspicion. The diagnostic tools have improved due to the availability of modern imaging techniques, and the advent of measuring the sFLC assay along with immunofixation of the serum and urine. The prognosis for patients with AL-CA used to be dismal, with very poor survival rates. The current treatment strategies that include proteasome inhibitors have significantly improved survival, emphasizing the importance of early diagnosis and prompt initiation of therapy. Monoclonal antibodies against plasma cells (daratumumab) and light chain amyloid deposits (NEOD001) have the potential to further improve outcomes. The diagnosis of ATTR-CA used to be a futile academic pursuit given the lack of available therapies. However, there are several new FDA-approved agents on the horizon, including TTR gene silencers and stabilizers. CA is no longer considered to be rare and hopeless. Rather, it is more common than previously recognized and even more treatable.

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