Marfan Syndrome and Pulmonary Problems - Asthma, pneumothorax, apnea!

Sleep apnea is very common in marfan syndrome. See a sleep specialist for diagnosis and treatment. JR

Pulmonary Management

Pulmonary issues are not a major criteria for people with Marfan syndrome however many people with Marfan syndrome have serious pulmonary symptoms such pneumothorax, restrictive lung diseases, chest wall deformaties and sleep apnea.

Overview

Q & A

• Is it possible to confuse lung symptoms of Marfan syndrome with asthma and incorrectly make an asthma diagnosis?
• What are the pulmonary function tests needed to evaluate lung function In people with Marfan syndrome?
• What is the appropriate management of restrictive lung disease? Is it different for people with Marfan syndrome?
• Is there a recommendation regarding chemical versus mechanical scarring for the treatment of repeated collapsed lungs (spontaneous pneumothorax)?

   

OVERVIEW 

Because fibrillin is expressed in the lung and is associated with elastin there, it is thought to affect both lung development and homeostasis. One possible effect of fibrillin-1 deficiency is pneumothorax. The symptoms of this are shortness of breath, dry cough or an acute onset of pleuritic chest pain. People with Marfan syndrome are at-risk of pneumothorax although they might not smoke. For them, it can be recurrent, present in both lungs and frequently associated with emphysema.

"Small" pneumothorax is treated in the hospital with supplemental oxygen. “Moderate to large” pneumothorax is treated by chest tube evacuation and possibly pleurodesis if necessary.

Restrictive lung disease occurs in more than 70 percent of people with Marfan syndrome. Often, this is due to severe pectus abnormalities and/or scoliosis. In either case, the result is that the chest cannot expand fully. The primary symptom is shortness of breath during exertion.

Emphysema, which results from loss of alveolar walls and enlargement of the air spaces, causes airway obstruction and inflammation. Approximately 10-15 percent of people with Marfan syndrome have emphysema, but it is probably under-diagnosed. It is the structural predisposition of the lungs in people with Marfan syndrome that is probably to blame. Symptoms include shortness of breath during activity, frequent bronchitis (often as a result of common colds or viruses settling in the chest) and low blood oxygen. The diagnosis can be confirmed by a chest x-ray, CT scan, pulmonary function test or arterial blood test. The conventional treatment for emphysema is supplemental oxygen, bronchodilator and aggressive treatment of infections. Research is underway on other pharmaceutical agents that may be useful.

Asthma, which is very common in the general population, is also present in the Marfan community.  Respiratory specialists should coordinate care with the other Marfan specialists because the conventional treatments for asthma (beta-agonists) have the opposite effect of beta-blockers which are prescribed to many people with Marfan syndrome.

Pectus deformaties can influence pulmonary function.  While surgery can correct the pectus, there is no evidence that pulmonary function will improve. Scoliosis is typically corrected early, but it can be progressive and cause more problems with pulmonary restriction. Serial pulmonary function tests can determine the progress of the lung restriction. Lung dysfunction can be worse if another airway disease, such as asthma or emphysema, is present. Supplemental oxygen and pulmonary rehabilitation are recommended to improve the quality of life.

Some people with Marfan syndrome have sleep apnea, which can have a number of causes.  One seems to be laxity of the connective tissues of the airways, which then further relax during sleep and cause partial obstruction to air flow.  Often persons with sleep apnea are overweight, but thin persons with Marfan syndrome are also at risk. 

Q & A

Is it possible to confuse lung symptoms of Marfan syndrome with asthma and incorrectly makde an asthma diagnosis?This is often a problem because people who are first diagnosed with Marfan syndrome are frequently children or young adults, an age group in which asthma is a common cause of shortness of breath. Making the correct diagnosis of asthma or another lung problem is important because the beta blocker medication often prescribed to minimize aortic enlargement in people with Marfan syndrome may complicate asthma treatment or make the asthma worse. If the asthma diagnosis is questionable, other explanations for the shortness of breath should be explored.

What are the pulmonary function tests needed to evaluate lung function in people with Marfan syndrome?In order to rule out asthma, emphysema and restrictive lung disease, people should typically have tests including: routine spirometry with and without bronchodilators, lung volume measurements and a diffusing capacity study. If asthma is a strong possibility, provocative testing should be performed. If there is any evidence of restrictive lung disease, maximal inspiratory and expiratory flows should be tested. When sleep apnea is a concern, measurement of upper airway resistance during sleep is a required part of any study for a person with Marfan syndrome.

What is the appropriate management of restrictive lung disease?  Is it difference for people with Marfan syndrome?Restrictive lung disease is an inability of the lung to expand adequately in order to take in a full breath. This can be caused by either structural abnormalities of the thoracic cage, such as pectus abnormalities or scoliosis, weak respiratory muscles or lung scarring. For people with Marfan syndrome, the most common causes are chest wall structure or function. Lung scarring is unusual in people with Marfan syndrome. Therefore, the first task for the physician is to determine whether it is a skeletal, muscle or lung problem. This can be accomplished with appropriate pulmonary function testing and a chest CT. Unfortunately, sometimes the degree of restriction does not correlate with the extent of breathlessness or functional impairment. Additionally, apart from early correction of scoliosis, which does improve respiratory function, other surgical measures to normalize the dimensions of the thoracic cage do not always help. Thus, choices about interventions should be individualized to address cosmetic and functional concerns.

Is there a recommendation regarding chemical versus mechanical scarring for the treatment of repeated spontaneous pneumothorax?Physicians who care for people with Marfan syndrome should assume that all patients will eventually require aortic replacement. Therefore, any thoracic procedure should respect the anatomic mandates of future aortic surgery. If supplemental oxygen or chest tube insertion does not successfully treat the pneumothorax, doctors may recommend pleurodesis, which involves "scarring" the lung surface to attach the lung to the chest wall. The best pleurodesis method for individuals with Marfan syndrome is mechanical rather than chemical pleurodesis, as the former makes cardiac surgery easier.

http://www.marfan.org/marfan/2366/Pulmonary-Management

Exercise-Induced Bronchospasm (Asthma): What you need to know (Part 1)

Below is a summary from the Exercise-Induced Bronchospasm Landmark Survey, a study that evaluated exercise-related respiratory symptoms in children ages 4-17.  Dr. Susarla

Key Insights

The survey findings yield a number of important insights about asthma and exercise-induced bronchospasm in the United States: 

• Patients with asthma have a significant physical burden of disease, which produces lower self-health ratings, activity limitations, and sick days, compared with persons without asthma.
• Asthmatic patients with symptoms of exercise-induced bronchospasm (EIB) also have a significant emotional or psychological burden of disease as demonstrated by feeling more fearful, isolated, depressed, frustrated, and embarrassed than persons without EIB symptoms.
• Nearly half of asthma patients report their health interferes with their ability to participate and perform well in sports, and more than a third feel they cannot keep up as well as other persons their own age in physical activities.
• When asked what usually triggers their asthma or makes it worse, nearly a third of asthma patients volunteer “exercise” --- more than any other asthma trigger.
• Four out of five asthma patients report experiencing symptoms after sports, exercise, play or other physical activity, but less than a quarter have been diagnosed with either exercise-induced asthma (EIA) or exercise-induced bronchospasm (EIB).
• Less than a quarter of asthma patients with exercise-related symptoms take quick-relief medicine, like albuterol, always or most of the time prior to exercising.
• Patients’ understanding of exercise-related symptoms and their management are different than healthcare providers, which may lead to miscommunications between physicians and patients regarding proper asthma management.
• Results of the survey suggest that exercise-related symptoms among asthma patients may reflect uncontrolled or improperly managed asthma.
• The problem of EIB is not limited to persons with asthma with more than a quarter of the adult cross-section reporting respiratory symptoms during or after sports, exercise, play or other physical activities, while less than one in five have been diagnosed with exercise-induced asthma or exercise-induced bronchospasm. 

Read full reference here

Pediatric Asthma, Pulmonary & Sleep Specialist Serves Houston Suburbs with Personal Attention - Dr. Sarat Susarla joins Texas Medical & Sleep Specialists

Houston is the fourth-largest city in the country, but the suburbs continue to face a shortage of full-time pediatric specialists. Texas Medical & Sleep Specialists proudly announces that Dr. Sarat Susarla has stepped into that void to meet the needs both of infants as well as children/teens with asthma and other lung disorders.

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Working closely with families and primary care doctors while providing timely access, we can make a difference.

Houston, TX (PRWEB) July 23, 2012

Imagine driving your distressed child with asthma through 1 to 2 hours of traffic to see her specialist. Until the summer, patients and families had to face an hour or more traffic to access pediatric specialists in the Houston medical center. No more.

Texas Medical & Sleep Specialists is proud to announce that Dr. Sarat Susarla has joined our practice to provide both pediatric pulmonary & asthma care as well as sleep medicine services to the Greater Houston area.

With dual board certification in pediatric pulmonology and sleep medicine, Dr. Susarla cares for young people with a wide spectrum of respiratory disorders. Dr. Susarla welcomes consultation for infants, children, and young adults with asthma, chronic cough, wheezing, pneumonia, exercise intolerance, and respiratory problems related to prematurity.

Dr Susarla brings an expert perspective to asthma care, “I want to work with parents and community physicians to get children with asthma out of the hospital and emergency room. Working closely with families and primary care doctors while providing timely access, we can make a difference.”, said Susarla.

A pediatric pulmonologist specializes in a wide range of common and rare respiratory disorders. Dr. Susarla describes the scope of his work “Asthma is very common, but chronic respiratory problems in kids can have numerous causes. Sometimes children have symptoms very similar to asthma, but it turns out their real diagnosis is actually very different.”

Dr. Susarla offers advanced onsite lung function testing, exercise testing, as well as same-day urgent appointments. Dr. Susarla is the only private pediatric pulmonologist serving The Woodlands, Sugar Land and Memorial / West Houston area. He has staff privileges at a number of local hospitals including Texas Children's Hospital, Children's Memorial Herman Hospital, and The Woman's Hospital of Texas.

Dr. Susarla serves many of Houston's neonatal intensive care units assisting in complex cases and easing the transition to home. One of his special areas of expertise is apnea and in infancy and chronic respiratory disease in former premature infants.

Dr. Susarla also cares for children and adults with snoring, sleep apnea, excessive daytime sleepiness, and insomnia. With advanced training at Texas Children’s Hospital / Baylor College Medicine and board certification in adult and pediatric sleep medicine, he brings a unique perspective to the field as a specialist in respiratory disorders.

“We don’t recognize sleep problems in children as readily as we do in adults. They are more likely to show signs of inattentiveness and hyperactivity. Often children with sleep problems behave very similarly to children with attention deficit hyperactivity disorder (ADHD)”.

As a sleep specialist, Dr. Susarla works with a rare combination of neurology and pulmonary sleep specialists.    Dr. Susarla joins Dr. Joshua Rotenberg , pediatric neurologist. “Dr. Susarla adds breadth to our pediatric specialty team. “ said Rotenberg. “We offer a unique and personal service to our community.”

....READ MORE HERE

For further inquiries call Dr. Sarat Susarla at Texas Medical & Sleep Specialists at 713-464-4107 orhttp://www.txmss.com

Have Asthma? Don't Say No To Exercise

There is a lot of confusion about asthma and its relationship to exercise.  Most athletes I treat DO NOT require any restrictions when it comes to sports.  Dr S.

Asthma doesn't have to mean game over for athletes

Sixteen-year-old basketball standout Larry Austin Jr. is doing what a doctor thought unlikely, given his asthma.

“Actually, my doctor told me awhile ago that I’d never play a sport,” says Austin, who has college basketball scholarship offers and plans to compete for a spot on the USA Basketball under-17 team that will play in the World Championships this summer.

Austin, who will be a junior this fall at Lanphier High School, said his asthma symptoms include a lot of sneezing and a nose that is “stopped up.” He’s battled asthma since he was 3 months old.

Time with a nebulizer and sometimes an inhaler helps Austin before basketball games. He says he hasn’t had any problems with asthma this year.

“I started to grow out of it, slowly,” he says.

A chronic lung disease that makes air movement in and out of lungs difficult, asthma can be managed but not cured. In asthma, the lungs’ airways (bronchi) become inflamed and can spasm, causing shortness of breath and wheezing. The exact cause isn’t known, but certain “triggers” (a condition, thing or activity) can make asthma worse.

Some refer to asthma that worsens with exercise as “exercise-induced” asthma. But that term can be misleading, say local medical doctors.

“Usually, the term ‘exercise-induced’ asthma is used. Potentially, it’s just episodic bronchial constriction, which follows exercising patients who have asthma,” says Dr. Anwar Shafi, assistant professor of pediatrics, specializing in pediatric pulmonology, at the Southern Illinois University School of Medicine.

“I think ‘exercise-induced asthma’ is potentially misleading because exercise is not an independent risk for asthma. It’s just a trigger for bronchial constriction in patients who have underlying asthma.”

Initially, it was thought that Austin’s asthma was exercise-induced, but it was later learned that allergens are his triggers.

“It took a lot of trips going to the hospital, being admitted into the hospital before they identified what was really causing it,” said Larry’s mother, Christa Austin, who adds that her son receives allergy shots every 20 days for maintenance.

Other side of the coin

Shafi says exercise can be a trigger for some of his asthmatic patients.

“When we see patients, we take a careful history ... we try to determine if the child has asthma ... (with) typical symptoms of asthma: cough, wheezing, shortness of breath, chest tightness,” Shafi says.

“Then we try to ascertain what can be the triggers. It depends on the age. Usually in children, viral infections are the most common cause for triggering asthma symptoms. If they do have significant allergies, then allergens can be a trigger for their asthma as well.”

Read more here

Early Detection of Asthma Flare-Ups Reduces Hospitalizations

Early detection leads to prompt treatment of symptoms... which reduces emergency room visits and hospitalizations.  A good line of communication with a pediatric asthma specialist is the key.  S Susarla

Reducing Hospital Admissions for Asthmatics

ScienceDaily (Apr. 4, 2012) — Children with moderate or severe asthma attacks who are treated with systemic corticosteroids during the first 75 minutes of triage in the Emergency Department (ED) were 16% less likely to be admitted to hospital. This highlights the importance of adopting a strategy to rapidly identify and begin treating children with moderate or severe asthma attacks directly after triage, according to a team of investigators working at the Sainte-Justine University Hospital Center (UHC), the University of Montreal, McGill University and the Research Institute of the McGill University Health Centre (RI MUHC).

"We knew that corticosteroids could help avoid hospital admissions and relapses. However, just how delays between ED admission and administration of the treatment impacted outcomes remained unclear," says Dr. Sanjit K. Bhogal, the lead author of a new study published in Annals of Emergency Medicine and graduate of the Department of Epidemiology, Biostatistics and Occupational Health at McGill.

"Our study demonstrates that, to be effective in preventing hospital admission, treatment with corticosteroids should be administered within 75 minutes of triage, regardless of patient age," says the senior author Dr. Francine Ducharme, who supervised the study while she was a McGill and RI MUHC researcher based at the Montreal Children's Hospital.

According to Dr. Ducharme, now pediatrician and researcher at Sainte-Justine UHC, "in fact, the earlier the treatment is given within this time frame, the more effective it is, hence the advantage of starting treatment right after triage. Furthermore, beginning early treatment reduces ED stay by almost 45 minutes for patients who will be discharged from the ED."

The challenge now is to ensure that the severity of the asthma attack is flagged at the triage stage in order to initiate treatment immediately. In fact, it seems that patients who are treated "too late" were due, for the most part, to not been given high triage priorities or to physicians not being able to assess them early enough. ED congestion did not significantly impact on the time frame for administering corticosteroids.

"Given the findings of the study, the need to implement a nursing strategy that involves identifying the severity of the child's condition and beginning treatment as soon as a patient arrives in the ED, seemed obvious," said Dr. Ducharme, who is also clinical epidemiologist at the Sainte-Justine UHC, where the study data were compiled and analyzed. Dr. Ducharme also holds the Academic Chair in Clinical Research and Knowledge Transfer in Childhood Asthma at the Sainte-Justine UHC Research Center and is a full professor in the Faculty of Medicine of the University of Montreal.

The pediatric respiratory assessment measure (PRAM) scale, developed by Dr. Ducharme's team, was used to identify the degree of severity of the asthma attack and to rapidly initiate the severity-specific treatment recommended by asthma guidelines. At the Sainte-Justine UHC, Dr. Ducharme' s team has now develop a teaching module that will allow training of the triage nurses, ED physicians, and respiratory therapists to implement severity-specific guidelines and, whenever possible, to avoid patients being admitted to hospital.

The educational module will be available online by the end of 2012 on the University of Montreal's website. It is eagerly awaited by health institutions in Ontario and Alberta, as well as in several institutions in the US, which have decided to adopt the proposed treatment protocol based on the PRAM scale and who wish to receive training. The tool is an offspring of the integration of research, education and health care. As such, it will make it possible to transfer the knowledge acquired through the study to the EDs around the world, for the direct benefit of patients and their families.

http://www.sciencedaily.com/releases/2012/04/120404101953.htm