syndromes and rare diseases as a challenge to anaesthesiologist

AbstractBackground: Rare disease can be defined as that disease which has a low prevalence in population that a doctor in a busy general practice would not expect to see more than one case per year. A rare disease according to US criteria that affect fewer than 200000 people all over the world if there are less than 5000 it is called such rare disease.Syndrome can be defined as a set of signs and symptoms that tend to occur together which reflect the present of a particular disease or an increase chance of developing of a particular disease. Patients with common or uncommon syndromes and rare diseases, with or without multiple congenital anomalies, present unique challenges to the anesthesiologist responsible for administering sedation and anesthesia during surgical or technical procedures. Patients affected with heritable diseases often have special health-related needs requiring attention before successful sedation or anesthesia. There are number of syndromes and rare diseases known for their risk with sedation or anesthesia. Some of these conditions are relatively common (e.g. Down’s syndrome) whereas others are rare or present with multiple congenital anomalies that have an impact on health care delivery. The complications, recommendations, and checklist items are mentioned to assist the anesthesiologist administering sedation and anesthesia. A better recognition and awareness of risk factors associated with these diseases should lessen the likelihood of complications during these procedures. The anaesthetic risks of these syndromes and rare diseases include many challenges to anaesthesiologist that need a well established plan for their management to minimize complications that may develop perioperatively.Objectives: An anaesthetist may face problems which may arise in his patient due to ignorance of the symptoms and signs of unusual diseases or syndromes when need special care or type of anaesthesia. So, the aim of this essay is to highlight the preioperative difficulties which coexist in patients with syndromes and rare diseases, delineate different approaches for their anaesthetic management and provide a dictionary for these diseases as a reference.