Hereditary transthyretin amyloidosis presenting with spontaneous periorbital purpura: a case report.

ABSTRACT:

Background

Amyloidosis is a systemic disorder of abnormal protein folding and deposition resulting in a range of symptoms including neuropathy, heart failure, renal disease, and dermatologic findings. The two most common types of amyloidosis that affect the heart are transthyretin (ATTR) amyloidosis and light chain (AL) amyloidosis, which vary in clinical presentation. Skin findings such as periorbital purpura are considered more specific for AL amyloidosis. However, there are rare cases of ATTR amyloidosis causing the same dermatologic findings.

Case summary

A 69-year-old female presented for evaluation of amyloidosis after cardiac imaging done at the time of a recent atrial fibrillation ablation showed signs of infiltrative disease. On examination, she had periorbital purp

SUBMITTER: Jhawar N 

PROVIDER: S-EPMC10053636 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature