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WHAT IS MARFAN SYNDROME?

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Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.

Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related conditions.
Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.

Who has Marfan syndrome?
About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.

Knowing the signs of Marfan syndrome can save lives

People with Marfan syndrome are born with it, but features of the condition are not always present right away. Some people have a lot of Marfan features at birth or as young children – including serious conditions like aortic enlargement. Others have fewer features when they are young and don’t develop aortic enlargement or other signs of Marfan syndrome until they are adults. Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time.

This makes it very important for people with Marfan syndrome and related conditions to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially life-threatening complications. The earlier some treatments are started, the better the outcomes are likely to be.

Knowing the signs of Marfan syndrome can save lives. Our community of experts estimates that nearly half the people who have Marfan syndrome don’t know it. This is something we are working hard to change.

Every person’s experience with Marfan syndrome is slightly different. No one has every feature and people have different combinations of features. Some features of Marfan syndrome are easier to see than others. These include:
Long arms, legs and fingers
Tall and thin body type
Curved spine
Chest sinks in or sticks out
Flexible joints
Flat feet
Crowded teeth
Stretch marks on the skin that are not related to weight gain or loss

Other signs are harder to detect
Harder-to-detect signs of Marfan syndrome include heart problems, especially those related to the aorta, the large blood vessel that carries blood away from the heart to the rest of the body. Other signs can include sudden lung collapse and eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts. Special tests are often needed to detect these features.

What does Marfan syndrome look like?
Marfan syndrome can affect many parts of the body, and each person is affected differently. This is called variable expression. Features can even vary among people in the same family who have the condition. Visit our photo gallery to see the many faces and body types of Marfan syndrome.

Source: https://www.marfan.org/about/signs

(Image: Representation only)

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Cold and Flu – good or bad sign?

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How do we know our immune system is ineffective or run down?

Is immune optimization based solely on “boosting the immune system”?

Let’s look at these and other important questions that will deepen our understanding about our immune system…

Understanding immunity

Our body is exposed to many potential threats. The immune system is exposed to foods, air, water, dusts, pollens and microbes. By constantly responding to our external environment, our body can adjust and reach new set-points that allow us to ‘feel good in our bodies’ (also known as homeostasis).

The immune system is always working, often without producing any symptoms. The most important function of our immune system is to distinguish “self” from “non-self”. During its investigation, the immune system decides whether to expel foreign invaders from the body, destroy and remove them, or segregate them in order to lessen their harmful impact on the body. Once the potential threat is identified, a healthy immune system can respond by creating replications of itself and mobilizing to the affected area. Through the release of chemical mediators, inflammation occurs in the local area thereby allowing more immune cells to be called into action. Although these mechanisms are important to fight off infections, they are also the cause behind unpleasant symptoms such as sore throats and runny noses.

The way the immune system responds can either be balanced (the response is effective and proportional to the threat), hypersensitive (as in food and environmental allergies, including seasonal allergies), underactive (as in a lingering cold), overly reactive (as in H1N1 infection complications where inflammation goes out of control) or out of balanced (as in autoimmune disease where the immune system starts attacking the body). The effectiveness of the clean up job is of upmost importance because we feel better faster, and it allows the immune system to direct its attention to new potential threats.

When the body’s telling you something

There are many health conditions and symptoms that let us know that our immune system is dysfunctional. Those that are at the top of my list include:

Frequent colds and flu.
Colds and flu that turn into deeper infections (eg lingering coughs, pneumonia and bronchitis) or other respiratory infections (eg sinus or ear infections).
Allergies (food, seasonal, environmental).
Herpes outbreaks (cold sores or shingles).
Persistent fatigue.
Candida yeast infections.
Digestive disorders (eg celiac, irritable bowel syndrome).
Inflammatory disorders (eg Crohn’s or ulcerative colitis, rheumatoid arthritis, etc…).
Because our digestive tract and immune system are intricately linked, digestive disorders are among the leading causes of immune dysfunction. One of the most important lymphatic networks includes the aggregations of lymph tissue of the Peyer’s patches in the abdomen. The Peyer’s patches are developed primarily in childhood. For this reason food allergies and gut irritation (often seen in colicky children) can impair the development of this lymphoid organ. Later in life we maintain good immune-gut health mainly with healthy bowel movements, and the presence of good bacteria in our guts. ‘Good’ bacteria derived from cultured food sources, inoculate our digestive track thereby promoting better food absorption and outcompeting ‘bad’ bacteria. The good bacteria often work in tandem with the immune system. The lining of our digestive tract (from mouth to anus), known as the mucous membrane is also packed with antibodies that help identify and neutralize viruses and bacteria.

Colds and flu – a bad or good sign?

Having 1 to 2 colds or flu per year is actually a sign of a healthy immune system. You can think of the infections as a yearly tune-up.

The intensity and duration of symptoms during a given sickness provide important clues of immune system health status. Ideally, infections should bring symptoms that are intense but which have a short duration and resolve completely. Intense symptoms such as a sore throat, lots of mucous, a fever and even a strong, productive cough indicate that your immune system has the vitality to be mobilized into action and has the capacity to launch a full assault.

During flu infection, you may also feel lethargic, have body aches, feel fatigued and even feel that you cannot get out of bed for 1 or 2 days. These are not necessarily bad signs! Unless you have to go to work (recognizing that life can place high demands on some folks), the best thing is to stay home during that time to rest and sleep. Your immune system will be able to work more efficiently this way. Over a period of 3 to 5 days, the symptoms should slowly improve and completely resolve. No lingering sniffles, residual chronic coughs, and no ear or sinus infection. Many people, if they are able to mount a robust immune assault feel as good as new and for some maybe even better than before the infection. The cold or flu allowed the body to cleanse itself and the immune system becomes stronger to fight future infections. This is important especially considering the rise in “super” bugs and antibiotic resistant bacteria.

Never getting sick or when colds and flu lingers for many weeks are markers of a weakened immune system. On the other hand, the immune system can be hypersensitive. That is, it can over-react and cause intense symptoms to seemingly minor threats (e.g. pollen).

It is imperative to diagnose and treat the cause for the dysfunctional immune system. Here are the top causes:

Poor digestive health (lack of good bacteria in the digestive tract, and chronic constipation or diarrhea).
Inflammatory conditions (eg Crohn’s disease, ulcerative colitis, autoimmune disease, cancer, etc…). Even mild inflammation occurring in many chronic conditions can overtime weaken the immune system.
Chronic viral infections (HIV, herpes, etc…).
Poor diet especially excessive refined sugar and simple carbohydrate intake, or lack of whole foods (leading to deficiencies in vitamins, mineral and proteins).
Excess work.
Stress, excess exercise or lack of sleep. Especially if associated with chronically elevated cortisol levels.
Work with your medical doctor or naturopathic doctor to correctly diagnose the causes behind your immune dysfunction.

Immune optimization

The way our body responds against a flu virus (or other microbes) is based on our immune system’s ability to fight the infections. It would make sense, therefore, to focus our efforts solely on boosting our immune system. Is it as simple as using natural remedies such as Echinacea or vitamin C that are commonly used for this purpose? Although these remedies can be helpful, for a more long-term and whole-body approach, adopt a plan that promotes both effective and balanced immune system function.

SOurcehttp://monctonnaturopathic.com/cold-can-sign-healthy-immune-system/

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