Number： 002

Publication date： 2018/12/15

Content description： FAP（Familial Amyloid Polyneuropathy，澱粉樣多發性神經病變）是一種罕見的家族染色體顯性遺傳疾病，因為某些蛋白的基因突變，導致其結構出現變化，使得這些原本為水溶性的蛋白形成澱粉纖維在細胞外沉積而致病。

FAP患者因為不正常澱粉樣蛋白（amyloid）堆積，引起多發性神經病變。澱粉樣蛋白堆積在不同器官與組織中，如血管、心臟、消化系統、周邊神經系統（如神經幹、神經叢、感覺運動神經、自律神經等），導致不同病變，統稱為澱粉樣蛋白疾病（amyloidosis）。

Number： 001

Publication date： 2020/06/01

Content description： Established in December 2014, Rare Disease Hong Kong (RDHK), formerly known as the Hong Kong Alliance for Rare Diseases, is a charitable institution recognized by the government (ref. no.: 91/16233). It is first patient group in Hong Kong comprising cross-rare-disease patients and their families with the support of experts and academics in the field.

Topics across this leaflet: (1) What is a rare disease, (2) Definition of Rare Diseases, (3) Characteristics of Rare Diseases, (4) Challenges Encountered by Patients with Rare Disease and their Caregivers.