Table 2.
Myopathological findings, organ involvement, and treatment
| Patient 1 | Patient 2 | |
|---|---|---|
| Diagnosis | ATTRv | ATTRwt |
| Muscle pathology | Present | Present |
| Necrotic/Regenerating fibers | None/single | None/single |
| Rimmed vacuoles | None | None |
| Nonrimmed vacuoles | Single | Single |
| Pathological myofiber variability | Present | Present |
| Congo red positive deposits | Present | Present |
| within muscle fibers | Absent | Scarce |
| within interstitial tissue | Abundant | Abundant |
| Tissue diagnosis | ||
|
Positive Negative |
Heart, muscle | Muscle |
| – | – | |
| Organ involvement preceding myopathy | Heart, PNS | None |
| Organ involvement at presentation | Heart, PNS | Heart, PNS, muscle |
| Time from amyloidosis to myopathy onset (months) | 18 | 0 |
| Treatment |
Tafamidis (2017-2020) Inotersen (2020 ongoing) |
Tafamidis (2019 ongoing) |
ATTRv transthyretin variant amyloidosis, ATTRwt wild-type transthyretin amyloidosis, PNS peripheral nervous system