Pneumonia and MECP2 Duplication Syndrome: Part 1

About Pneumonia

Pneumonia almost certainly represents the greatest health threat to most individuals with MECP2 Duplication Syndrome. It is the cause of a great deal of illness and loss of life among individuals with MECP2 Duplication Syndrome. Although there are clearly differences among these individuals, as a group, they appear to experience pneumonia more frequently, have more severe symptoms, and respond to treatment more slowly. This blog entry is the first in a series written for families that describes pneumonia, discusses some of the factors that contribute to pneumonia in individuals with MECP2 duplication syndrome, and suggests some possible practical strategies for reducing the risk of respiratory infections and managing pneumonia.

There are three important limitations to remember regarding this information: (1) This information is not intended as medical advice. Every individual is different and decisions about health care should be made together with a competent physician who is familiar with your family member and his or her condition (including MECP2 duplication syndrome and all other relevant individual health considerations). (2) At this time, in March 2012, medical science is at very early stages of understanding why and how pneumonia occurs as it does in these individuals. Hopefully, much more will be learned in the months and years to come that will quickly make this information obsolete. (3) There is no foolproof way to eliminate the risk of pneumonia, but there are some simple practical ways to reduce the risks for individuals with MECP2 Duplication Syndrome.

In part 1, pneumonia is defined and some of the causes of pneumonia are described.

Defining Pneumonia

Most of us have a pretty good idea of what pneumonia is, but a standard definition might be good place to start our discussion. Pneumonia is inflammation and consolidation of the internal structures of one or both lungs. Inflammation means swelling and consolidation means that the empty spaces, normally filled with air, fill with secretions or fluid. In many cases, it is caused by bacterial, viral, fungal, or parasitic  infection, but not always. Irritants, such as allergens or other foreign substances, can also cause pneumonia. Pneumonitis is a related term: it refers to inflammation of the lung, but does not necessarily involve consolidation or exudate. So it is possible to have pneumonitis without having pneumonia, but pneumonia always includes pneumonitis.

Pneumonia is not a single disease. It is a condition that can be caused by a variety of illnesses, and each of these has different causes, preventive measures and treatments. While there is no surefire way to eliminate risk for pneumonia, there are some measures that can reduce the risk for some of the more common causes of pneumonia.

It is also important to recognize that while there are many different causes of pneumonia, these causal factors can combine or interact. For example, viral pneumonia or aspiration pneumonia can lead to bacterial pneumonia, particularly among individuals with weakened immune systems.  As a result, lab work may rule out bacterial infection early in the illness, but find bacterial infection later on.

Some Causes of Pneumonia

Common causes of are bacteria, viruses, fungi, other microorganisms, and foreign materials that enter and irritate the lung. while there is considerable information available about the relative frequency of these various causal agents in the general population, there is limited information available about the relative risk that these various agents pose to individuals with MECP2 duplication syndrome. Anecdotal information suggests that these individuals have increased vulnerabilities to several, if not all, of these categories of agents. More research is required to clarify this. Here is a short list of some of the causal agents. A list of some of these agents is provided below.  It is not important to for families to learn the names and details of all these bacteria, viruses, etc. This list is provided simply to indicate the large number of specific infectious and noninfectious agents that can be involved.

Bacterial Pneumonia

In the general population most cases of pneumonia are caused by bacterial infection. The following list indicates some of the many different bacteria that can cause pneumonia. The point of this list is not that families need to learn the names and characteristics of all these bacteria, but it is important to understand that many different kinds can be involved and when lab results identify the type involved, this may point toward the most appropriate treatment and may even provide clues to measures that can prevent future infections. For example, if the bacteria involved are normally found in the gastrointestinal tract it may suggest that GI reflux needs better control, and legionella pneumonia may suggest a need to check the home (water heaters, humidifiers, etc.) for possible sources of contamination.

Streptococcus pneumonia: Also known as pneumococcus. This is generally the most common bacterial cause of pneumonia. This bacteria also can cause ear infections, sinus infections,  meningitis, and other infections besides pneumonia. There are many subtypes. Vaccines are available that offer considerable protection, and there is some evidence that this vaccine can improve resistance among individuals with MECP2 duplication syndrome.

Legionella pneumophila: Legionnaires’ disease was once considered to be a rare cause of pneumonia associated with outbreaks or local epidemics. recent information suggests that sporadic community acquired cases are quite common and often go unrecognized. This bacteria is frequently found in relatively small numbers in water including water supplies inside many homes, hospitals, and community settings. Infections are often traced to higher concentrations of these microorganisms that develop.

Staphylococcus aureus This bacteria can be found living in the noses of about 30% of people without casing symptoms. Occasionally, however, they can cause pneumonia or other infections, particularly among those with weakened immune systems.

Mycoplasma pneumoniae: This is another fairly common cause of pneumonia. In healthy individuals, this is sometimes referred to as walking pneumonia because it tends to have a more gradual onset, to take long time to resolve, and may have milder symptoms than some other kinds of pneumonia. These symptoms, however, are likely to be more severe among people with weakened immune systems.

Escherichia coli: This bacteria is commonly found in the intestines of healthy individuals, but can cause serious infections. Individuals with reflux experience greater risk, and this and other bacteria can turn aspiration pneumonia into bacterial pneumonia.

Other Bacteria: There are many other bacteria that can cause pneumonia, particularly among individuals with weak immune systems. This is not intended to be a complete list, but some of the others include Chlamydophila pneumoniae, Haemophilus influenzae, Klebsiella pneumoniae, Pseudomonas aeruginosa, Moraxella catarrhalis, and Coxiella burnetii.

Part 2 will follow soon describing some other causes of pneumonia.

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