Breathing control in familial dysautonomia: a new review

Coloured historical artwork of the structures of the heart & lungs and their blood vessels. Taken from a 19th century illustration.

Learn how our collaboration with doctors in Israel is helping educate others on the importance of a proactive lung care plan to support breathing.

Problems with ventilatory control are a life-long issue for children with familial dysautonomia. Knowing how serious this can be, the team at the Center has dedicated the last few years in grappling with these issues. Following recent key findings the Center’s clinical research team was invited to review our current understanding of ventilatory control in patients with FD.

Lack of sensation

At any time, a someone living with FD can stop breathing. This can be caused by a number of issues including sedative drugs like diazepam, sleep apnea, or a blockage of the airway. Instead of sensing that this is happening and stimulating the drive to breathe again, patients with FD don’t increase their respiratory rate. Put simply, they don’t sense what is going on, so they don’t respond as they should. The chemoreceptor reflex, which is a system of nerves that control breathing, fail. Patients can severely ill with hypoxia, but because the nerves don’t detect low oxygen, they can’t stimulate breathing.

 Being ahead of the game to prevent consequences

Sleep disordered breathing is almost a universal finding. “In nearly every single sleep study, in which carbon dioxide levels were measured, they were elevated” explained Dr. Palma. Children and adults with FD have pauses in breathing at night or slip into a slow shallow rate where carbon dioxide levels rise. Not surprisingly, the population are at high risk of complications. Sudden death during sleep remains a leading cause of death.

Carbon dioxide levels can build up in patients with familial dysautonomia as they sleep at night.

Fortunately, sleep disordered breathing can be treated. We now have more and more patients sleeping with CPAP or BiPAP, which normalized their breathing at night. We have children using CPAP and BiPAP at a much earlier age, building up their tolerance, and protecting themselves against long pauses in breathing or hypoventilation.

As we start to understand ventilatory control in patients with FD, we can start to develop treatment plans that overcome the problems. Understanding that sedative drugs can be useful to break a crisis is important, but ensuring that after taking them, should you fall asleep, you should be wearing a BiPAP mask as that could save a life. Knowing that fludrocortisone is one approach to treat low blood pressure and may be fine, but keeping in the back of your mind that low potassium levels can occur, which can predispose arrhythmias and could worsen hypoxic ventilatory drive is critical.

Having this knowledge out in the literature will hopefully help others understand FD better. Before, anyone wanting to know about ventilatory control in patients with FD had to go back to the original studies from the 1960s. The article summarizes those classic early findings and takes a fresh look at the reasons why ventilatory drive is abnormal in patients with FD. The article also helps treating physicians see that non-invasive ventilation is an important therapy, that patients should be using.

“Understanding why breathing is poorly controlled and what we can do about it is an important priority”  – Dr. Alberto Palma

The review article combined the expertise of staff at the Center together with physicians in Israel, a new generation of clinical scientists leading the forefront of FD research and treatment. Things are moving at a faster pace that before. This knowledge helped shape the new respiratory guidelines which breakdown the current treatment recommendations for lung disease in FD.

When it comes to treating breathing problems in patients with FD, we need to be on the same page. We are building strong collaborations with the doctors in Israel an important part of our united approach to deliver state of the art therapies to patients with FD. Dr. Alex Gileles-Hillel is a pediatric pulmonologist at Hadassah Medical University and co-author of the paper. He takes care of a growing population of FD patients in the region.

Dysautonomia Center_AW_2018_9140

With still more to do, investigators and clinicians at the Center and their partners in Israel remain focused on finding ways to improve quality of life in patients with FD. The recent update provides a ways to share their growing knowledge with basic scientists and doctors working on the disease. The idea is to get this information in to the hands of others, explained Dr. Kaufmann, so they can either use it to develop a new therapy or apply it to saving the life of a patient in need of help.

Read the article here:

More about our work: