Sorry, this is not the most likely diagnosis
The next step for this patient is genetic testing. With this patient presentation, your diagnosis may seem like a good possibility. However, rapidly progressive sensory-motor neuropathy, early autonomic dysfunction, diarrhea, and weight loss are red-flag symptoms of hATTR amyloidosis. Further, the family history of death from early onset heart failure could signal a hereditary component to his condition. Positive Congo red staining of the sural nerve biopsy specimen indicates the presence of amyloid. Additional tests are needed to determine the precursor protein and mutation.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 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.
- Conceição I, Gonzãlez-Duarte A, Obici L, et al. J Peripher Nerv Syst. 2016;21(1):5-9.
- Adams D, Suhr OB, Hund E, et al. Curr Opin Neurol. 2016;29(suppl 1):S14-S26.