Fabry disease: a short history of the eponym

Abstract

Fabry disease (Anderson-Fabry disease) is a rare genetic lysosomal disorder that affects the heart, kidneys, and the central nervous system (CNS). The disease is caused by mutations in the GLA gene, located in the X chromosome. The disorder was first described by both Johannes Fabry, dermatologist, and William Anderson, surgeon, independently in 1898. Johannes Fabry (1860–1930) was born in Jülich, Germany. He studied medicine in Bern and Berlin, where he received his doctorate in 1886. Between 1889 and 1929, Fabry served as chief medical officer of the Skin Clinic at Dortmund. In 1898, he described dermatological features of the disease in a 13-year-old boy and named the condition „purpura haemorrhagica nodularis“. In the same year, William Anderson (1842–1900) reported the disorder in a patient aged 39 years. He described eruptions on his trunk and on the right leg. Anderson termed the condition „angiokeratoma“. The patient’s mother and sister as well three of his four children were also affected by the disease.

Anderson was born in London. He was educated in Lambeth School of Art, and in St. Thomas Hospital. In 1873, he moved to Tokyo, Japan, where he served as professor of anatomy and surgery.