New Blood Test May Screen For ATTR Cardiac Amyloidosis

MedicalResearch.com Interview with:

Frederick L. Ruberg, MD Director, Cardiovascular Medicine Fellowship Training Program Director, Pilot Grants Program, Boston University Clinical and Translational Science Institute Director, Advanced Cardiac Imaging Program Section of Cardiovascular Medicine, Department of Medicine Department of Radiology Boston Medical Center

Dr. Frederick Ruberg

Frederick L. Ruberg, MD
Director, Cardiovascular Medicine Fellowship Training Program
Director, Pilot Grants Program, Boston University Clinical and Translational Science Institute
Director, Advanced Cardiac Imaging Program
Section of Cardiovascular Medicine
Department of Medicine
Department of Radiology
Boston Medical Center 

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: ATTR cardiac amyloidosis is an under-recognized cause of congestive heart failure in older adults that results from the deposition of misfolded TTR protein in the heart. One cause of ATTR cardiac amyloidosis is a genetic abnormality, inherited from an affected patient’s parent, that causes the protein TTR to misfold. The most common genetically inherited cause of ATTR amyloidosis in the US is called Val122Ile (V122I), named for the specific mutation in the TTR gene, that is seen in approximately 3.5% of US African Americans. ATTR cardiac amyloidosis was once an untreatable disease, but now new drugs are in different stages of clinical trial testing. Thus, recognition is important to get patients on the right treatments.

One of the principal reasons why the disease is under-recognized is that doctors don’t have proven and available diagnostic tests that can be applied in the outpatient clinic. This study demonstrated that a new point-of-care diagnostic test, using measurement of a blood protein called retinol binding protein 4 (RBP4) and other standard of care test information, can accurately diagnose ATTR cardiac amyloidosis. We demonstrated the validity of this test in two separate cohorts of patients with proven ATTR cardiac amyloidosis due to the Val122Ile mutation and control patients with heart failure but without amyloidosis.

MedicalResearch.com: What should readers take away from your report?

Response: This new test utilizing RBP4 concentration may be useful as a screening test for ATTR cardiac amyloidosis, and thereby increase accurate diagnosis and recognition.

MedicalResearch.com: What recommendations do you have for future research as a result of this study?

Response: This screening test was demonstrated in a relatively small cohort of about 150 patients. Further validation is necessary in a larger cohort before widespread adaptation as a clinical test.

MedicalResearch.com: Is there anything else you would like to add?

Response: This work was sponsored by the National Institutes of Health and the Young Family Amyloidosis Research Fund and performed at Boston Medical Center/Boston University School of Medicine. 

MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.

Citation:

Arvanitis M, Koch CM, Chan GG, Torres-Arancivia C, LaValley MP, Jacobson DR, Berk JL, Connors LH, Ruberg FL. Identification of Transthyretin Cardiac Amyloidosis Using Serum Retinol-Binding Protein 4 and a Clinical Prediction Model. JAMA Cardiol. Published online February 08, 2017. doi:10.1001/jamacardio.2016.5864

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

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