UNLIKELY

Sorry, this is not the most likely diagnosis

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The next step for this patient is genetic testing. Although the patient presentation may lead you to suspect the diagnosis you selected, the more likely diagnosis is hATTR amyloidosis. Evidence of heart failure, in combination with low QRS voltage on ECG, left ventricular wall thickening, and myocardial speckling on echocardiogram, are findings suggestive of hATTR amyloidosis. Additionally, the onset of paresthesia may be due to peripheral neuropathy. Myocardial uptake of the 99mTc-PYP tracer indicates the presence of amyloid, and this result, combined with the lack of monoclonal protein in serum and urine, can rule out AL amyloidosis. Furthermore, family history of death from early onset heart failure suggests a hereditary component of disease.1,2

Now is the time to send this patient for genetic testing to rule out hATTR amyloidosis.

Alnylam Act® is one option for genetic testing, which can help confirm the presence of a genetic mutation.

Alnylam is sponsoring no-charge third-party genetic testing and counseling for individuals who may carry gene mutations known to be associated with hereditary ATTR (hATTR) amyloidosis. The Alnylam Act® program was developed to reduce barriers to genetic testing and counseling to help people make more informed decisions about their health. While Alnylam provides financial support for this program, tests and services are performed by independent third parties. Healthcare professionals must confirm that patients meet certain criteria to use the program. Alnylam receives de-identified patient data from this program, but at no time does Alnylam receive patient identifiable information. Alnylam receives contact information for healthcare professionals who use this program. Genetic testing is available in the U.S. and Canada. Genetic counseling is only available in the U.S. Healthcare professionals who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any Alnylam product.

Want to send a patient for genetic testing? Download the Alnylam Act®   application now.

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References:

  1. Dharmarajan K, Maurer MS. J Am Geriatr Soc. 2012;60(4):765-774.
  2. Gillmore JD, Maurer MS, Falk RH, et al. Circulation. 2016;133(24):2404-2412.
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