How to Manage Anesthesia in Patients With Rare Diseases?

Introduction

Orphan diseases are rare diseases that affect less than two lakh people in the United States. Anesthesiologists may be confronted when anesthesia is needed in surgical intervention or treatment. Surgery and anesthesia are interconnected because of the pathology associated with rare diseases; anesthesia is generally given to patients. Orphan diseases are called neglected diseases. These include diseases such as cystic fibrosis (a rare disorder that affects the lungs, pancreas, kidneys, and intestines), acromegaly (when the body makes too much growth hormone), Tourette’s syndrome (a condition of the nervous system), and Lou Gehrig’s disease (a rare neurological disease that affects motor neurons). These orphan or rare diseases may cause distinctive phenotypic (change in the morphology and the behavior) anomalies that can challenge the procedure of anesthesia. The problems that are generally encountered are difficulty in maintaining the airways, changes in respiratory mechanism, and hepatic, cardiovascular, and renal disorders. Ignorance of these problems could lead to threats to the patient and even cause mortality and morbidity of the patients.

What Are Rare Diseases?

Rare diseases are defined as chronically debilitating diseases with a low prevalence, so combined efforts are needed to approach them. The exact number of cases is still not known. Rare diseases are diseases that affect a small number of the population. Most rare diseases have a genetic origin. These diseases appear early in life; most children die before their fifth birthday. Chronic genetic diseases are mainly considered rare diseases. They may also be caused by bacterial, viral, allergies, and chromosomal disorders. These diseases generally are incurable and severe. Rare Disease Day is also held in February in countries like India, Europe, Canada, and the United States to create awareness of rare diseases among the people. Rare diseases have a wide variety of symptoms that range from patient to patient. Due to its low prevalence, medical expertise is also less. These diseases affect the patient, his family, caretaker, and society.

What Is an Orphan Anesthesia Project?

Very little information is available regarding managing rare diseases and anesthesia. Recently, the idea of an open-access database with information about anesthesia has emerged. So, doctors from around the world participated in the Orphan Anesthesia Project. It is related to the publications on the safe anesthetic management of patients suffering from rare diseases. Orphanet maintains an extensive database on the internet, and it has grown to a consortium of 40 countries worldwide. There is sparse data available regarding rare diseases and the outcome of anesthesia. This database provides information on rare diseases. This database maintains the nomenclature of rare diseases and also improves the research information system about the same. The nomenclature includes the type of disorders and the relationship between the disorders. Each disorder is given a preferred classification according to a set of rules to ensure the linearization of the diseases. Orphanet also conducted a systematic survey to estimate the prevalence and incidence of rare diseases. It is a unique source of gathering information related to rare diseases, and thus it helps in the diagnosis, treatment, and care of such patients. Orphanet was established in France in 1997. Orphanet provides high-quality information to all stakeholders.

Why Is Anesthesia With Rare Diseases Challenging?

Anesthesia with rare diseases is challenging because of the following reasons:

1. Lack of time during the emergency treatment.

2. There needs to be more available literature regarding rare or orphan diseases.

3. Experts are not available during a prompt emergency.

4. If data is present, it has insufficient evidence.

5. It is also difficult for anesthesiologists to manage such patients because the information is scattered.

What Are the Steps Considered for the Preparation of Patients for Anesthesia?

• A structured approach should be followed to prepare the patient for the anesthesia from a rare disease. Literature research on rare diseases should be conducted, and proper screening of medical records and physical examination should be done. Take the informed consent of the patient. Check for the patient's mental status and plan the treatment accordingly. The role of preoperative medical assessment is to reduce mortality and morbidity while performing anesthesia in such patients. Documentation should be done for which purpose surgery is indicated. Also, look for if there is a need for regional anesthesia (if there is difficulty in maintaining airways) or if general anesthesia will be advantageous. Proper evaluation of the airways and cardiovascular complications should be assessed. Planning of post-operative care should also be made prior. It is essential to evaluate the data quality to get information about orphan diseases.

• Remarkable growth has been seen in the areas of anesthesia. It is of utmost importance to appreciate the pathophysiology of these rare diseases to decrease the patient's risk. Specific factors that make the evaluation difficult need to be considered for proper diagnosis and phenotypic variability. Many anomalies present since birth are interconnected. Mostly rare diseases are genetic diseases that include chromosomal disorders, multifactorial problems, and mitochondrial mutations. As discussed above, the main issues are airway abnormalities, neuromuscular disorders, and mitochondrial diseases. So careful intubation and airway monitoring is necessary to avoid such complications. The main problem is encountered by the difficulty in adapting the facial mask, and the limited cervical mobility makes it difficult to maintain the airway.

• Managing the patient with airway obstruction can further be complicated by gastroesophageal reflux, which can cause an increased risk of aspiration. In such conditions, a fast-acting neuromuscular blocker may be used. An appropriate anesthetic technique can also be used, considering all the risks. Post-operative care should be taken care of in such patients.

Conclusion

Anesthesiologists should retrieve high-quality literature or evidence regarding the orphan disease, the patient's medical condition, and the procedure considerations. The most important thing is that rare diseases have a relatively low prevalence, and there is not much literature available, so the specific aspect of the disease needs to be fully understood. So, in-depth preparation for such patients is necessary. It is essential to recognize the considerations of anesthesia and know about the possibility of anesthesia in such patients. It will help in avoiding morbidity and mortality in the patients.