Esophageal papillomatosis: an exceedingly rare disease

Abstract

If esophageal papilloma (EP) is a rare condition, esophageal papillomatosis (EPS) is a distinct rarity. To date, only 53 well documented cases have been described in English literature. However, the number of reports on EPS significantly increased to over 40 cases during the past 20 years. Perhaps, this is due to the broad use of endoscopy and related research achievements. Most of the cases are individual and it seems that there are no associations between them. And up to now no guidelines can be followed. To further understand this exceedingly rare disease, we had a comprehensive review of the epidemiology, etiology, clinical manifestations, pathogenesis, treatment, and clinical course of EPS.

Current situation and future of gene therapy for rare diseases

“…Gene therapy is an emerging therapeutic method, which uses vectors to introduce genetic material into target cells to treat or prevent diseases by correcting or supplementing defective genes [3]. It has a good therapeutic prospect in the treatment of cancer and genetic diseases.…”

“…The AAV vector used for in vivo gene therapy is modified from wild-type AAV. As a result of the natural evolution of the virus, it has high transfection efficiency, and the nucleic acid (DNA or RNA) of the virus itself is transferred to the host cell for replication [3].…”

“…Gene therapy drugs are mostly used to treat rare diseases, tumors and other diseases, and many patients are discouraged by their high price [7]. The production and purification methods of viral vectors are inefficient, and producing enough AAV vectors for clinical trials is a major challenge [3]. The current production and purification system has a series of problems such as difficult scaling up of production process, difficult purification, poor stability, etc.…”

“…Now there are about 7,000 rare diseases known. Although a single disease is very rare, the number of patients is about 300 million in the huge global population base, and there are about 20 million Chinese patients, with more than 200,000 new patients every year [3]. 80% of rare diseases are caused by congenital genetic defects and have genetic properties, and 80% of patients develop symptoms in childhood [3].…”

“…Although a single disease is very rare, the number of patients is about 300 million in the huge global population base, and there are about 20 million Chinese patients, with more than 200,000 new patients every year [3]. 80% of rare diseases are caused by congenital genetic defects and have genetic properties, and 80% of patients develop symptoms in childhood [3]. Families and society are looking forward to new treatment technologies, which is one of the greatest medical challenges of mankind.…”