Nuremberg. Up to 10,000 rare diseases are known worldwide, and new ones are identified every year. In the European Union, a disease is considered rare if no more than one in 2,000 people is affected. Individually, these diseases are rare – but collectively, they are not: In Germany alone, an estimated four million people are affected by a rare disease at some point in their lives. Rare diseases therefore represent a relevant issue for medical care – particularly when surgical procedures, emergencies, or childbirth require anesthesia. On the occasion of Rare Disease Day, the German Society of Anaesthesiology and Intensive Care (DGAI) draws attention to its international project OrphanAnesthesia.
“For people with rare diseases, medical care is often associated with additional uncertainties,” says DGAI President Prof. Dr. Gernot Marx. “In anesthesiology in particular, we carry a special responsibility because we frequently accompany patients in critical and time-sensitive situations. This makes it all the more important that relevant knowledge is available in a structured format – regardless of where and why a procedure takes place.”
When Experience Is Limited, Risk Increases
In rare diseases, limited clinical experience coincides with a demonstrably increased risk of anesthetic complications. For anesthesia teams, this means high demands in terms of preparation, planning, and execution – often under time pressure. This is precisely where OrphanAnesthesia comes in. The freely accessible database provides standardized, peer-reviewed recommendations for the anesthetic and emergency management of patients with rare diseases. Currently, recommendations for more than 230 conditions are available. In 2025 alone, the platform recorded more than 85,000 accesses worldwide.
“Rare diseases present anesthesia teams with particular challenges because there are often few established routines,” explains project lead Dr. Christine Gaik (Marburg). “Our recommendations help to identify risks at an early stage and to structure care safely – both for planned procedures and in emergencies.”
New Recommendations for Clinical Practice
Since the beginning of 2025, OrphanAnesthesia has been further expanded. Newly added recommendations include anesthesia management for Long QT syndrome, congenital insensitivity to pain, choanal atresia, pediatric nephrotic syndrome, and other syndromes. The recommendations provide practical guidance on the choice of anesthetic technique, perioperative planning, and postoperative monitoring. They are complemented by structured emergency information based on the internationally established ABCDE approach.
“Structured information can be decisive, especially in time-critical situations,” emphasizes project lead PD Dr. Philipp Gude (Bochum). “OrphanAnesthesia offers exactly this guidance – concise, evidence-based, and immediately accessible.”
A German Initiative with International Reach
OrphanAnesthesia was initiated in 2005 by the Scientific Working Group on Pediatric Anesthesia of the DGAI. Today, the project continues to be developed in collaboration with physicians and researchers worldwide – in cooperation with the European information platform Orphanet and several European professional societies, including the European Society of Paediatric Anaesthesia (ESPA), the European Society of Anaesthesiology and Intensive Care (ESAIC), and the Italian Society of Neonatal and Pediatric Anesthesia and Intensive Care (SARNePI).
An international network of anesthesiologists and experts in rare diseases from various medical disciplines contributes its knowledge on a voluntary basis to the development and peer review of the recommendations. OrphanAnesthesia thus exemplifies how medical knowledge can be pooled, continuously expanded, and made freely accessible worldwide.
Participation Welcome
Given the large number of rare diseases, the continuous expansion of the database remains a key task. The DGAI invites colleagues to actively contribute to OrphanAnesthesia – whether by authoring or reviewing recommendations or by sharing information with patient organizations.