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

Sleep deficit may underlie kids' ADHD, migraines

Sleep deficit may underlie
kids' ADHD, migraines

Congratulations on raising awareness  Dr Joseph!

The child displays hallmark behaviors – fidgety, impulsive, irritable, inattentive – and has been diagnosed with ADHD. Dr. Kevin Joseph isn’t stepping through a DSM-IV screening, though. His questions tack in another direction.
“How well does your child sleep?”
Joseph, a board-certified pediatric neurologist and sleep specialist at Valley Medical Center, regularly witnesses the revelations of an overnight polysomnography.

“I saw a boy, 9 years old, who couldn’t sit still in class, couldn’t remember to brush his teeth. Turns out he had severe sleep apnea, like 101 events per hour, and for a child, normal is 1.5 events,” Joseph said. “His oxygen saturations were down in the 70-80 percent level when they should’ve been 95-100 percent. We sent him for a tonsillectomy and at follow-up his parents reported he was sitting in class, not fighting, even losing some weight.

“He was like a new kid, and they were thrilled. And I never put him on medication.”

When sleep disturbances such as apnea are brought to light, cases of childhood migraines and attention deficit hyperactivity disorder – even epilepsy – often can be ameliorated or resolved.

Joseph studied at Walter Reed Army Medical Center and added training in pediatric neurology at Children’s National Medical Center. In the last four of his nine years of active duty, he treated soldiers for brain injuries in Iraq and was chief of child neurology at Madigan Army Medical Center in Tacoma.

There he saw how a parent’s deployment can subvert a child’s evening routines, spurring migraines and nightmares. More recently, he has witnessed how economic hardship deprives the whole household, not just the breadwinners, of sleep.

“The key difference between pediatrics and adult medicine is that, with pediatrics, you have to attend to the family, not just the child,” Joseph said. “I always ask about stressors at home. If parents are out of work or have financial issues, even if they only talk about those issues behind closed doors, it tends to seep through. It’s easy for me to give guidance about structure a child should have around bedtime. It’s harder for a family to implement, especially in single-parent households.”

The American Academy of Pediatrics in August revised its clinical-practice guideline, recommending that all children and adolescents who snore regularly be screened in a lab setting for obstructive sleep apnea. But snoring isn’t the only red flag: “Daytime learning problems,” the guideline notes, should compel attention, too.
Despite well-documented negatives associated with adult sleep disorders, parents are often surprised to learn about sleeplessness’ impact on a child, Joseph said. Sleep is when growth hormone is secreted, fueling body and brain development.

Joseph’s patients at the Pediatric Sleep Center include NICU preemies and 18-year-olds. They are restless or listless or developmentally delayed. They (or their parents) present with concerns about snoring, night terrors, sleepwalking, headaches and seizures, poor report cards and other events.

For people with epilepsy, disrupted sleep can re-awaken symptoms that medication had largely controlled. Joseph mentioned cases of college freshmen whose newfound freedom led them to join a late-night study session, and then seizures struck anew.

It’s important to get a formal diagnosis of obstructive apnea before a tonsillectomy is weighed, because a child with the condition is at greater risk of postoperative problems with the airway and with bleeding, Joseph said. The usefulness of a CPAP device should be considered, as well, because tonsillectomy doesn’t always bring relief.
“I saw a girl who had migraines that we couldn’t control with medication. She had obstructive apnea. She had a tonsillectomy, which didn’t affect the apnea, but then we put the CPAP on her and her headaches went away,” he said. “It was a huge success for the family. She wears this thing religiously.”

Junk food linked to asthma and eczema in children

Asthma is a complex chronic medical condition with many genetic and environmental contributors.  Although food exposure does not suggest cause, research like this is certainly relevant and deserves attention.  Dr. Susarla

The high saturated fat levels in food such as burgers lower children's immune systems, it is believed.

A research project involving more than 50 countries found that teenagers who ate junk food three times a week or more were 39 per cent more likely to get severe asthma. Younger children were 27 per cent more at risk.

Both were also more prone to the eye condition rhinoconjunctivitis, according to The Sun newspaper

But just three weekly portions of fruit and vegetables could cut that risk by 14 per cent in the younger group and 11 per cent among the teens, it is believed.

Researchers from New Zealand's Auckland University looked at the diets of 181,000 youngsters aged six to seven and 319,000 aged 13-14.

The scientists then asked if the children had allergy symptoms.

They wrote in the journal Thorax, where the study is published: "Fast food may be contributing to increasing asthma, rhinoconjunctivitis and eczema.

"Regular consumption of fruit and vegetables is likely to protect against these diseases."

In the UK alone 1.1 million children already suffer with asthma and one in five get eczema.

The team of researchers warn that their results do not prove cause and effect.

Read article here.

Study Supports Notion of Leaving Infants to Cry Themselves Back to Sleep

Here is a little fuel for you new parents suffering with insomnia.  Dr. Susarla

Let Crying Babes Lie: Study Supports Notion of Leaving Infants to Cry Themselves Back to Sleep

Today, mothers of newborns find themselves confronting a common dilemma: Should they let their babies "cry it out" when they wake up at night? Or should they rush to comfort their crying little one?

The study, published inDevelopmental Psychology, supports the idea that a majority of infants are best left to self-soothe and fall back to sleep on their own.In fact, waking up in the middle of the night is the most common concern that parents of infants report to pediatricians. Now, a new study from Temple psychology professor Marsha Weinraub gives parents some scientific facts to help with that decision.

"By six months of age, most babies sleep through the night, awakening their mothers only about once per week. However, not all children follow this pattern of development," said Weinraub, an expert on child development and parent-child relationships.

For the study, Weinraub and her colleagues measured patterns of nighttime sleep awakenings in infants ages six to 36 months. Her findings revealed two groups: sleepers and transitional sleepers.

"If you measure them while they are sleeping, all babies -- like all adults -- move through a sleep cycle every 1 1/2 to 2 hours where they wake up and then return to sleep," said Weinraub. "Some of them do cry and call out when they awaken, and that is called 'not sleeping through the night.'"

For the study, Weinraub's team asked parents of more than 1,200 infants to report on their child's awakenings at 6, 15, 24 and 36 months. They found that by six months of age, 66 percent of babies -- the sleepers -- did not awaken, or awoke just once per week, following a flat trajectory as they grew. But a full 33 percent woke up seven nights per week at six months, dropping to two nights by 15 months and to one night per week by 24 months.

Of the babies that awoke, the majority were boys. These transitional sleepers also tended to score higher on an assessment of difficult temperament which identified traits such as irritability and distractibility. And, these babies were more likely to be breastfed. Mothers of these babies were more likely to be depressed and have greater maternal sensitivity.

The findings suggest a couple of things, said Weinraub. One is that genetic or constitutional factors such as those that might be reflected in difficult temperaments appear implicated in early sleep problems. "Families who are seeing sleep problems persist past 18 months should seek advice," Weinraub said.

Another takeaway is that it is important for babies to learn how to fall asleep on their own. "When mothers tune in to these night time awakenings and/or if a baby is in the habit of falling asleep during breastfeeding, then he or she may not be learning to how to self-soothe, something that is critical for regular sleep," she said.

Read article here.

Asthma, Insomnia Make Each Other Worse

One of the reasons asthma can present insidiously is it may manifest more at night.   You may not awaken with obvious symptoms of breathing problems, but sleep is disrupted enough to affect daytime function.  This is a problem I see frequently in children and adolescents.  Parents are often surprised to see how effective treating asthma can be at improving sleep quality.  Dr. Susarla

Asthma, Insomnia Make Each Other Worse

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If you experience breathing problems, you might need to actively treat those symptoms, or you could find that you’re being kept awake at night. According to a recent Swedish study, asthma sufferers are far more likely to suffer from insomnia than others.

The trial was a large one, with data collected from 25,610 adults in four Swedish cities. The participants were given a questionnaire that asked questions about insomnia, asthma, rhinitis, weight, height, tobacco use, and physical activity. For the purposes of the study, the researchers defined asthma as taking current medication for the condition or experiencing at least one asthma attack during the last 12 months. Of the 25,610 participants, 1,830 people were defined as being asthmatics. Here’s what the researchers found when they compared asthma and sleep quality:

• The prevalence of insomnia symptoms was significantly higher among asthmatics than non-asthmatics

• For those with nasal congestion and asthma, insomnia symptoms were worse

• The risk of insomnia increased with the severity of asthma

• Asthmatics who had three or more symptoms were more than twice as likely to suffer from insomnia

• Nasal congestion, obesity, and smoking also increased the risk of insomnia

Insomnia is a common problem among asthmatics. The researchers concluded by saying that asthmatics should treat their symptoms, including nasal congestion, to make sure that they get a good night’s sleep. Other lifestyle factors, like smoking and obesity, will also increase your chances of suffering from insomnia if you’re an asthmatic.

Read article here.

Can Eating Your Veggies Prevent Asthma?

This is an interesting study, especially for patients/parents who always ask me what can be done "naturally" to prevent asthma.  As always, it is not clear if there is cause and effect.  However, reducing airway hyperresponsiveness, or the tendency for airway to constrict, is on the main goals of asthma therapy.  Dr. Susarla.

Low vegetable intake is associated with allergic asthma and moderate-to-severe airway hyperresponsiveness

Abstract

Background

In recent decades, children's diet quality has changed and asthma prevalence has increased, although it remains unclear if these events are associated.

Objective

To examine children's total and component diet quality and asthma and airway hyperresponsiveness (AHR), a proxy for asthma severity.

Methods

Food frequency questionnaires adapted from the Nurses' Health Study and supplemented with foods whose nutrients which have garnered interest of late in relation to asthma were administered. From these data, diet quality scores (total and component), based on the Youth Healthy Eating Index (YHEI adapted) were developed. Asthma assessments were performed by pediatric allergists and classified by atopic status: Allergic asthma (≥1 positive skin prick test to common allergens >3 mm compared to negative control) versus non-allergic asthma (negative skin prick test). AHR was assessed via the Cockcroft technique. Participants included 270 boys (30% with asthma) and 206 girls (33% with asthma) involved in the 1995 Manitoba Prospective Cohort Study nested case-control study. Logistic regression was used to examine associations between diet quality and asthma, and multinomial logistic regression was used to examine associations between diet quality and AHR.

Results

Four hundred seventy six children (56.7% boys) were seen at 12.6 ± 0.5 years. Asthma and AHR prevalence were 26.2 and 53.8%, respectively. In fully adjusted models, high vegetable intake was protective against allergic asthma (OR 0.49; 95% CI 0.29–0.84; P < 0.009) and moderate/severe AHR (OR 0.58; 0.37–0.91; P < 0.019).

Conclusions

Vegetable intake is inversely associated with allergic asthma and moderate/severe AHR. Pediatr Pulmonol. 2012; 47:1159–1169. © 2012 Wiley Periodicals, Inc.

Read abstract here.