Orphan diseases: impact for anesthesia practice

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Abstract

Purpose of review

Orphan diseases certainly have a challenging impact on anesthesia practice. Low prevalence by definition leads to a profound lack of evidence-based medical knowledge, and anesthetists usually cannot rely on personal experience for handling this unique group of patients. Then again, more than 7000 known orphan diseases are estimated to affect 5% of the general population in total. Therefore, it is imperative to have a universally valid approach to anesthesia for orphan diseases.

Recent findings

Patients suffering from orphan diseases will be in need of anesthesia for disease-related diagnostic and therapeutic procedures as well as unrelated elective and emergency surgery and may present themselves on all levels of medical care. Instead of itemizing specifics for each disorder and procedure, we rather present a structured – checklist-like – approach to individually prepare for anesthesia and will highlight the most relevant anesthesiological problems and possible countermeasures. We will discuss a variety of sources of information to gain specific disease knowledge and procedural advice and will close this review by discussing the limitations of anesthesia for orphan diseases.

Summary

Thanks to fast growing resources of knowledge, well tolerated and patient-oriented anesthesia is possible in spite of the inherent challenges of orphan diseases. We invite anesthetists to adapt, modify and improve our proposed structured approach to orphan anesthesia in the context of their daily practice.

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