Sorry, hATTR amyloidosis is not the most likely diagnosis
Genetic testing may be helpful in this case to rule out hATTR amyloidosis. While hATTR amyloidosis can cause elevated protein levels in CSF, the combination of macrophage-associated demyelination, onion bulb formation, and lack of Congo red positivity in histological analysis of the sural nerve biopsy sample suggests that this patient suffers from chronic inflammatory demyelinating polyneuropathy (CIDP).1,2 Because of the possibility of false negatives with Congo red staining, genetic testing may be a helpful diagnosis tool.1
For this patient, genetic testing was helpful in ruling 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.
- Adams D, Suhr OB, Hund E, et al. Curr Opin Neurol. 2016;29(suppl 1):S14-S26.
- Rajabally YA, Adams D, Latour P, et al. J Neurol Neurosurg Psychiatry. 2016;87(10):1051-1060.