New expert respiratory guidelines for familial dysautonomia

Scientists have long known that one of the greatest problems faced by patients with familial dysautonomia is the inability to breathe efficiently. Patients have difficulty swallowing, regulating the supply of oxygen to tissues, and mechanical problems caused by abnormal curvature of the spine. The effects can be catastrophic.

The most common cause of death in patients is respiratory compromise, due to life-threatening infections or failure respond to lack of oxygen or the build-up of carbon dioxide.  Until now, there were no guidelines to advise physicians how to take care of the lungs of a patient with FD.

From the very beginning it was clear to Dr. Kaufmann that we needed to re-look at how best to manage the respiratory problems of FD from aspiration to dangerous pauses in breathing at night. Over the last decade, medical knowledge has advanced and technology has gotten better. Many of the respiratory problems faced by patients with FD are now fixable or at least can be managed better to reduce the number of exacerbations.


The first step to improving respiratory care was to bring together a group of physicians to discuss the issues and what can be done about them. Experts from respiratory medicine, gastroenterology, speech and swallow and neurology came together with internists, scientists, and therapists to share their experiences. “Soon, we had a working group of 30 people,” explained Dr. Alberto Palma, “we listened to their opinions and reviewed the level of evidence supporting their recommendations.” When the evidence wasn’t there, they looked at the database, which contains the clinical information of all patients with FD seen at the Center. “We looked for patterns and trends to describe how frequent certain issues were and what were the outcomes of the treatments that were prescribed at the time.”

8782aa3d3f4f6bc2ae59287dac50b495_originalOver the course of a year, the respiratory guidelines started to take shape. The team graded each diagnostic test and clinical intervention according to whether there was strong or weak evidence to support it. The document went through several revisions as the experts all weighed in again.

The end result, published this month in the journal Respiratory Medicine, is an important milestone in clinical care. Finally, a physician can sit down and read what sort of respiratory problems occur in patients with FD, why they occur, and what can be done to stop them. The guidelines cover topics like avoiding aspiration, reducing airway inflammation, preventing scarring, overcoming a weak cough, preventing obstructions, and how to provide ventilatory support overnight.

Dr. Alberto Palma, MD, PhD – Assistant Director at the Center who spearheaded writing the Guidelines

Because patients have difficultly recognizing their symptoms, they often don’t complain in obvious ways. So, the team came up with a list of questions that a physician can ask to screen for the possibility of a chronic lung problem. “Patients can be completely unaware that they have aspirated food, drink or their own saliva into the lung instead of it directing it to the stomach” explained Dr. Palma. “Over the years, these silent aspirations irreversibly damage the delicate lining of the airways, so physicians need to be aware that they should look for signs like a wet sounding voice or colds that linger longer than they should.”

The new respiratory guidelines cover topics like when to involve swallow specialists, how to control saliva, when to recommend a feeding tube, what surgeries may be needed, chest physical therapy, how to monitor patients at home, special precautions for air-travel, as well as the use of antibiotics, inhalers, and CPAP or BiPAP.

All patients born with familial dysautonomia have some degree of lung disease. There has been a huge amount of progress in recent years, and we can take advantage of what has been learned.  Dr. Palma added “Our shared goal is to recognize potential problems early and choose the most effective treatment options to lessen suffering.” Providing expert guidelines for the respiratory care of patients with FD, gives a framework for treatment.

The Guidelines are available to download here:

Please share a copy with your physicians, nurses, and specialists.