Lymphoedema

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Lymphoedema

Postby patoco » Fri Jun 09, 2006 8:02 pm

Lymphoedema

Our Home Page: Lymphedema People

http://www.lymphedemapeople.com

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Lymphoedema

RELATED TERMS: Hereditary Lymphoedema, Type I; Congenital Hereditary Lymphoedema Milroy Disease, Nonne-Milroy-Meige Syndrome, Hereditary Lymphoedema, Type II, Meige's Lymphoedema, Familial Lymphoedema Praecox, Hereditary Lymphoedema Tarda, Hereditary Angioedema, Lymphoedema (Traumatic), Elephantiasis, Distichiasis-Lymphoedema Syndrome Lymphedema and Ptosis, The lymph system, Lymphorrhea, Lymphoedema wounds, Weeping lymphoedema, Cellulitis, Lymphangitis, Secondary lymphoedema, Lymphoedema complications, Lymphoedema Stages, Lymphedema treatment, Decongestive therapy, Risk factors for lymphoedema, lymphoedema fibrosis, Lymphoedema complications, Lymphoedema Praecox, Temporary lymphoedema, Chronic lymphoedema, Autosomal genetic trait, Emotional impact of lymphoedema, Spreading lymphoedema, lymphedema

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THE LYMPH SYSTEM

The lymph system is one of your bodies circulatory systems. It is composed of lymph vessels, lymph nodes and organs such as the bone marrow, spleen, thymus and is also believed to include tonsils. Is function includes the absorption and elimination of excess fluids, it assists in the absorption of fat and very important is critical to our bodies ability to fight infections and is critical in the immune system functions. When this system is not formed correctly, is damaged through injury or infection or is removed (nodes) then lymphedema is a very real possibility.

LYMPHOEDEMA

As mentioned previously lymphoedema is a condition that occurs from a damaged or dysfunctional lymphatic system. There are two different types of lymphedema.

PRIMARY LYMPHOEDEMA

PRIMARY LYMPHOEDEMA can be hereditary. Milroy's Disease or Syndrome will generally express itself at birth or in the very early years. Meige Lymphoedema, also known as lymphoedema praecox generally begins sometime during puberty. Lymphoedema tarda begins in or around middle age. Lymphoedema that has not expressed itself in an active condition is referred to a latent lymphoedema. Primary lymphoedema can also be congenital. This means some either in utero or during birth caused lymphatic damage.

SECONDARY LYMPHOEDEMA

SECONDARY LYMPHOEDEMA is generally caused by an obstruction, damage to or injury to the lymph system that leads to an interruption of the normal lymphatic flow.

CAUSES

PRIMARY LYMPHOEDEMA - The cause of hereditary primary lymphoedema has been isolated to a malformation or break in two known enes. These are the FOXC2 and VEGFC genes. There is a suspected third gene, but as yet, it has not been identified. Causes of congenital primary lymphoedema can be a develeopemental disorder of the lymphatics, in utero infection or injury and/or delivery difficulties.

SECONDARY LYMPHOEDEMA - The causes of secondary lymphoedema are multiple. Infections from insect bites, serious wounds, or burns can cause lymphoedema when they damage or destroy lymphatics as kind any type of serious injury, radiation for cancer treatments is also a cause. Outside the tropics the number one cause of secondary lymphoedema is the removal of lymph nodes for cancer biopsies. Hopefully, with the improved techniques of small needle biopsies, radiological diagnostic improvements and site specific node biopsies we will sees a marked decrease in this type of lymphoedema.

In the tropical climates the most common cause of lymphoedma is infection from filarial worms. Generally, resulting from mosquito bites. This parasite then grows eventually blocking and destroying the lymphatic system.

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Hereditary lymphoedema

Hereditary Lymphoedema is an inherited disorder of the lymphatic system that is characterized by abnormal swelling of certain parts of the body. The lymphatic system is a circulatory network of vessels, ducts, and nodes that filter and distribute certain fluid (lymph) and blood cells throughout the body. Lymphatic fluid collects in the soft tissues in and under the skin (subcutaneous) due to the obstruction, malformation, or underdevelopment (hypoplasia) of various lymphatic vessels.

There are three forms of Hereditary Lymphoedema: Congenital Hereditary Lymphoedema or Milroy Disease, Lymphoedema Praecox or Meige Disease, and Lymphoedema Tarda. In most cases, Hereditary Lymphoedema is inherited as an autosomal dominant genetic trait.

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RISK FACTORS FOR LYMPHOEDEMA

Who is at risk for lymphoedema? Anyone who has one or more of the following factors can acquire lymphoedema.

1.) Lymph node removal for biopsies
2.) Serious infections that include lymphangitis, cellulitis or erysipelas.
3.) Deep invasive wounds that might tear, cut or damage the lymphatics
4.) Radiation treatments, especially ones that are focused in areas that might contain "clusters" of lymph nodes
5.) Morbid obesity can cause secondary lymphoedema by "crushing" the lymphatics
6.) Serious burns, even intense sunburn
7.) Infection of the microscopic parasite filarial larvae, though this is more common in tropical countries
8.) For primary lymphedema any person who has a family history of unknown swelling of a limb

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LYMPHOEDEMA TREATMENT

The preferred treatment today is decongestive therapy. The forms of therapy are complete decongestive therapy (CDT) or manual decongestive therapy (MDT), there are variances, but most involve these two type of treatment.

With these massage treatments, swelling is reduced and then the patient is fitted with a pre-measured custom pressure garment to keep the swelling down.

Manual Lymphatic Drainage (MLD): is a unique, therapeutic method of stimulating the movement of fluids in the tissues. The gentle, rhythmic, pumping, massage movements follow the direction of lymph flow and produce rapid results. It assistes the cutaneous lymphatics in picking up and removing not just fluids, but all the waste products, protein partical and debris from our system. It also is successful in breaking fibrosis and fibrotic areas of a lymphoedemous limb.

This treatment was created and developed Danish therapists Dr. Emil Vodder and his wife, Estrid, in the 1930's and was introduced in Paris in 1936. They are also credit with creating a specialty of medicine called Lymphology.

First brought to North America in 1982, the school is located in Victoria, British Columbia, Canada. Before it was introduced the standard treatment course in North American was either a surgery called debulking or the use of compression machines wherein the limb was literally squeezed by pneumatic air pressure.

Comprehensive Decongestive Therapy (CDT) is used primarily in the treatment of lymphedema and venous insufficiency edema. It is a combination of MLD, bandaging exercises and skin care. CDT may also involve breathing exercises, compressive garments and dietary measures. A frequent indication for CDT is lymphoedema caused by irradiation or surgery due to cancer. It can relieve edema, fibrosis and the accompanying pain and discomfort.

Also known as Complete Decongestive Physiotherapy (CDP), this treatment therapy was pionered in the United States by Dr. Robert Lerner.

Other treatments include the use of compression pumps, surgery, and newer approaches such as the use of lasers, liposuction, wholistic therapies and even acupuncture.

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STAGES OF LYMPHOEDEMA

There are three basic stages active of lymphoedema. The earlier lymphoedema is recognized and diagnosed, the easier it is to successful treat it and to avoid many of the complications.

It is important as well to be aware that when you have lymphoedema, even in one limb there is always the possibility of another limb being affected at some later time. This "inactive" period referred to as the latency stage. It is associated with hereditary forms of lymphoedema.

LATENCY STAGE

Lymphatic transport capacity is reduced
No visible/palpable edema
Subjective complaints are possible

STAGE I

(Reversible Lymphoedema)
Accumulation of protein rich edema fluid
Pitting edema
Reduces with elevation (no fibrosis)

STAGE II

(Spontaneously Irreversible Lymphoedema)
Accumulation of protein rich edema fluid
Pitting becomes progressively more difficult
Connective tissue proliferation (fibrosis)

STAGE III

(Lymphostatic Elephantiasis)
Accumulation of protein rich edema fluid
Non pitting
Fibrosis and sclerosis (severe induration)
Skin changes (papillomas, hyperkeratosis, etc.)

Discussion Stage Four:

There have been some voices raised about a Stage Four classsification for lymphoedema. From my personal experiences, I concur. Both my legs are classified as Stage Three, yet the differance between the two is very dramatic.

Stage Four Classification

The limb is so densly fibrotic that it is not possible to make any indentation when pressed. It becomes impossible for ultrasound testing to pick even the blood pulse. The skin becomes brittle and
even the slight of bumps causes a serious, extensively weeping wound.
Because of the hardness of the tissue, it has become a total septic foci for bacteria and constant cellulitis and systemic infections become the norm. The only treatment for cellulitis is an extended period of IV antibiotics.

There is no treatment option for Stage Four. The complete focus is on management, containment of infections, prevention if at all possible of amputation.

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LYMPHOEDEMA FIBROSIS

Long standing lymphoedema causes a condition known as fibrosis. As the fluid continually collects in a limb, it becomes hard and dense. With each stage of lymphoedema there is also a change in the tissue texture of a limb.

With stage one the tissue is still much like normal tissue, its just satiated with fluid. As the swelling continues and as he fluid changes to that protein-rich fluid referred to a lymphorrea, you enter into stage two. In this stage, the tissue become very similar to a grape (best image I can think of). Already it is becoming much more difficult for antibiotics to reach bacteria and it becomes less response to the decongestive therapy.

At stage three, the tissue become similar to one of those old synthetic kitchen sponges, the ones that become rock hard when they are dry.

This is the very real serious side affect of stage three lymphoedema. This type of tissue increases potential of persistent and very hard to treat cellulitis or lymphangitis.

The denseness of the limb prohibits antibiotics from reaching the infecting bacterium and it is often able to survive in pockets of fibrotic tissue. These pockets act as a septic foci and after antibiotic treatment is completed, the infections will reappear.
Generally at this stage it is going to take IV antibiotics to deal with any infection because oral antibiotics just are not able to penetrate this mass of hard tissue.

Also, as the fibrosis intensifies you become more susceptible to deep venous thrombosis (DVT) and other circulatory problems. You may also start to experience neuropathy as the pressure of this tissue compresses nerves within the limb.

Late Term Complications - Fibrosis

Why it is so important to prevent, treat and control fibrosis

1.) Fibrosis can eventually cause vascular problems. As the tissue in your LE limb continues to harden, it will effect blood flow and supply. This can lead to necrosis.

2.) With late term fibrosis, bacteria find many places to hide and be protected. The more extensive the fibrosis is, the harder it is for antibiotics to reach the bacteria. This leads to persistent cellulitus. Eventually this can cause gangrene and/or necrosis.

3.) Fibrosis will affect nerves. The result will be a substantial increase in pain and discomfort.

4.) Fibrosis along with continuous cellulitis and radiation has been implicated in lymphangiosarcoma.

If you have lymphedema, it must be your priority to seek treatment and control to prevent fibrosis.

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LYMPHOEDEMA AND CELLULITIS

Acute Cellulitis is one of the complications of lymphoedema. The patient may not be aware of the source of the etiology. Sometimes it may be a cut, mosquito bite, open wound or other infection in the body.

The first sign is increased or different quality of PAIN involving the lymphoedema limb. The patients often describe this as a "flu like symptom or an ache" involving the lymphoedema arm or leg. This is usually followed by sudden onset of ERYTHEMA(redness, red streaks or blotches) on the involved limb. The HYPERTHERMIA(lymphedema limb becomes warm, hot) will follow and the patient may experience the CHILLS and even HIGH FEVER.

The early intervention and treatment with antibiotics will resolve this condition (it usually takes a very minimum ten day course of antibiotics). Only a Medical Doctor will be able to prescribe the Antibiotics, thus a consultation with a Doctor is necessary. Severe Cellulitis may require Inter venous Antibiotic treatment and hospitalization. Again, elevation of the affected limb is important.

During that phase the patient should NOT massage the lymphoedema limb, bandage, apply the pump, wear tight elastic sleeve or exercise excessively. Avoid the blood pressure and blood to be drawn from the involved arm. Keep the limb elevated as much as possible while resting. Once the symptoms dissipate the treatment MLD/CDP should be initiated.

How do we prevent this infection? The patient should be careful with daily activities and take all precautions to protect the skin (wear gloves when gardening, cleaning with detergents, etc.. ).

If an injury to skin occurs on the lymphoedema limb it is necessary to clean the wound with alcohol or hydrogen peroxide and apply Neosporin/Polysporin antibiotic ointment. If the symptoms progress seek the attention of a physician immediately.

It is so very important to avoid getting cellulitus as it further destroys the lymphatic system. Allowed to spread or continue it can become systemic and can lead to gangrene, amputation of the limb or even death.

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WEEPING LYMPHOEDEMA

LYMPHORRHEA - LYMPHOEDEMA WOUNDS

What is Lymphorrhea?

Lymphorrhea is the light amber colored fluid that drains from open skin areas (wounds) on a lymphodemous limb. It is not normal plasma, but is a protein-rich substance that can lead to serious complications for the lymphoedema patient.

Causes of Lymphorrhea

The cause of lymphorrhea drainage is any open area or break in the skin of the lymphodemous limb. Any opening, no matter how small will cause this fluid to weep or drain. Insect bites, cuts, abrasions, cracks in the skin from dryness, wounds of any type become a source for leakage of this fluid.

Lymphorrhea Complications

There are two serious complications that arise from lymphorrhea.

The fluid is a natural "food-source" for bacteria. The open draining wound becomes what is referred to as an entry foci for bacteria. This leads to cellulitis, lymphangitis or erysipelas.

Lymphorrhea is highly caustic to the skin tissue that it come into contact with. Untreated wounds with this drainage can very quickly become large gaping areas that may eventually lead to the need for skin grafts.

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LYMPHOEDEMA COMPLICATIONS

LIST OF COMPLICATIONS

1. Infections such as cellulitis, lymphangitis, erysipelas. This is due not only to the large accumulation of fluid, but it is well documented that lymphoedemous limbs are localized immuno-deficient.

2. Draining wounds that leak lymphorrea which is very caustic to surrounding skin tissue and acts as a port of entry for infections.

3. Increased pain as a result of the compression of nerves usually caused by the development of fibrosis and increased build up of fluids.

4. Loss of Function due to the swelling and limb changes.

5. Depression - Psychological coping as a result of the disfigurement and debilitating effect of lymphoedema.

6. Deep venous thrombosis again as a result of the pressure of the swelling and fibrosis against the vascular system. Also, can happen as a result of cellulitis, lymphangitis and infections.

7. Sepsis, Gangrene are possibilities as a result of the infections.

8. Possible amputation of the limb.

9. Pleural effusions may result if the lymphatics in the abdomen or chest are to overwhelmed to clear the lung cavity of fluids.

10. Skin complications such as splitting, plaques, susceptibility to fungus and bacterial infections.

11. Chronic localized inflammations.

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The Emotional Impact of Lymphoedema

Little is said about the psychological affects of lymphoedema, despite its profound impact on the person dealing with it.

Lymphoedema can cause pronounced social inhibitions because of being self conscious, it can cause depression, embarrassment, disfigurement, feelings of hopelessness and helplessness. You often go through tremendous life style changes and feel worthless and useless. It can cause sexual dysfunction as both male and female lymphoedema patients can acquire genital lymphoedema.

You go through periods of struggling with feeling humiliation, despair and you can experience terrific pain.

You also go through a lot of anger. Anger at why you have this, why the medical world knows so little about this condition and sometimes seems to care little either.

For cancer patients, its a double impact. While you are dealing with cancer, its side affects, whether or not you are going to live, the affects of radiation and chemo... now all of a sudden your body starts swelling out of control. What is going on???

If you are going through these emotions, please don't be afraid to let your doctor know. You may need professional help to get through this. You may also find a lot of comfort and encouragement in joining a support group. Under our section Resources, Organizations you find complete listings of support groups offering help in coping with lymphoedema.

You may also wish to join an online support group. There are several mentioned in our site. As a member, myself, I have found a wonderful and supportive family of fellow lymphoedema people. I cannot tell you just how much my new family has come to mean to me and how much I have gained by being a part of these groups.

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PAIN AND LYMPHOEDEMA

Lymphoedema is not simply a condition of swollen limbs with occasional infections from time to time. It is and can be an excruciatingly painful condition.

Pain is part of our bodies immediate survival defense mechanism.
The signal from our nerves to our brains tells us when something has gone wrong, that there is an injury, inflammation, trauma, infection.
Warning pain is a life saver, but chronic unrelenting pain is a debilitating experience, both mentally and physically.

Chronic, severe pain drains us of our mental and emotional ability to cope. Severe depression can come from unrelenting pain. It can and does put undue stress on our bodies and affects our ability to heal from either wounds or infections. Because of the stress it can
decrease our immune systems ability to defend the body from disease.

What are the sources of this physical pain from lymphoedema?

1. Compression of and to nerves from the swelling
2. Increased pressure and compression of nerves from fibrosis
3. Chronic inflammations that are all to often with lymphoedema
4. Cellulitis, lymphangitis and other infections
5. Over exertion of areas of the body as it attempts to cope with
the excess strain and weight over an oversized limb
6. Wounds and those weeping sores we all get from time to time

These are only some of the sources of pain associated with lymphoedema. When our pain becomes chronic and severe, it needs to be treated. You may find it necessary to seek a referral to a pain clinic and learn different types of pain management.

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PRIMARY HEREDITARY LYMPHOEDEMA

PRIMARY LYMPHOEDEMA can be hereditary. Milroy's Disease or Syndrome will generally express itself at birth or in the very early years. Meige Lymphedema, also known as lymphedema praecox generally begins sometime during puberty. Lymphedema tarda begins in or around middle age. Lymphedema that has not expressed itself in an active condition is referred to a latent lymphedema. Primary lymphedema can also be congenital. This means some either in utero or during birth caused lymphatic damage.

TYPES OF PRIMARY LYMPHOEDEMA

MILROY'S DISEASE

Related Terms: Nonne-Milroy lymphoedema, Milroy's Disease, Primary congenital hereditary lymphoedema, hereditary lymphoedema I, Nonne-Milroy-Meige disease

Milroy's Syndrome is an old term used to describe hereditary congenital lymphoedema. It is a congenital familial primary lymphoedema which results from vertical autosomal inheritance of a single gene. The gene has been identified as VEGFR3. The condition usually presents itself at birth with the swelling of one or even both legs.

If the condition is unilateral (single leg), the other leg may continue in the latency stage for years before expressing itself. The same is indicated for arm lymphoedema.

It is the rarest of the inherited lymphoedema, accounting for approximately 2% of hereditary lymphoedemas.

Hereditary lymphoedema was first described by Nonne in 1891, however in 1892 Dr. William F. Milroy described a missionary who had returned from work in India who had swollen legs his entire life. His mother likewise was afflicted with the same condition. Milroy had also, previously studied the 250 year history of a family and had been able to identify 22 persons with this condition through 6 generations. He was also able to pinpoint when the condition entered the family through a marriage in 1768.

Diagnosis

Basic diagnosis can be made by the fact that swelling (generally of the legs) presents at birth and there is a family history of similar swelling. Currently the most precise diagnosis can be made by a lymphoscintigraphy test. In this test a radioactive substance is injected into the limb and is traced on a computer screen. Through this method the exact location of the lymphatic blockages can be identified.

Etiology

The cause of Milroy's Disease is a break in the VEGFR3 gene.

Complications

The usual complications involved with the condition include fibrosis of the limb tissues, cellulitis (and or lymphangitis and erysipelas infections). Other complications made include involvement of the genitalia, pain, skin conditions and in very rare situations lymphangiosarcoma.

Treatment

Decongestive therapy is the most widely accepted form of treatment. There is no cure for Milroy's but the condition can be managed by early diagnosis and treatment.

Prognosis

Long term prognosis is excellent is the condition if identified early and treatment begins so after the diagnosis is made.

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LYMPHOEDEMA SYNDROME

See also: Nonne-Milroy-Meige Syndrome, Meige's lymphoedema, Hereditary lymphoedema II, familial lymphoedema praecox
Form of primary hereditary lymphoedema that starts at or around the time of puberty. The affected limbs are generally the legs.

Named after French physician Dr. Henri Meige who first described hereditary lymphoedema in 1891. This form of lymphoedema which usually presents itself at or during puberty is the most common of the hereditary lymphoedemas, account for 65-80% of all diagnosed cases.

Meige-Type Lymphedema

Also known as Lymphoedema II, this syndrome is similar to Lymphoedema I but the onset of peripheral edema occurs during the second to the fifth decades. The legs are the most commonly involved, and lymphangiography reveals hypoplasia of peripheral lymphatics with dilation of lymphatic trunks.

Diagnosis

Basic diagnosis can be made by the fact that swelling (generally of the legs) presents during puberty and there is a family history of similar swelling. Currently the most precise diagnosis can be made by a lymphoscintigraphy test. In this test a radioactive substance is injected into the limb and is traced on a computer screen. Through this method the exact location of the lymphatic blockages can be identified.

Etiology

The cause of Lymphoedema Praecox is a break in the VEGFR3 gene. The gene FOXC2 is implicated and there is also suspect third lymphedema gene.

Complications

The usual complications involved with the condition include fibrosis of the limb tissues, cellulitis (and or lymphangitis and erysipelas infections). Other complications made include involvement of the genitalia, pain, skin conditions and in very rare situations lymphangiosarcoma.

Other Indications

Related conditions may also include yellow nail syndrome, pulmonary hypertension, cerebrovascular malformations and distichiasis

Treatment

Decongestive therapy is the most widely accepted form of treatment. There is no cure for Lymphoedema praecox but the condition can be managed by early diagnosis and treatment.

Prognosis

Long term prognosis is excellent if the condition is identified early and treatment begins so after the diagnosis is made.

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LYMPHOEDEMA TARDA

Form of primary hereditary lymphoedema that expresses itself during middle age (generally onset 35+ years). Swelling generally occurs in the legs and may involve either one or both limbs. There is a higher incidence of lympheodema tarda among females than males.
This form of inherited lymphoedema accounts for approximately 10% of those with primary lymphoedema.

Diagnosis

Basic diagnosis can be made by the fact that swelling (generally of the legs) unexpectedly and there is a family history of similar swelling. Currently the most precise diagnosis can be made by a lymphoscintigraphy test. In this test a radioactive substance is injected into the limb and is traced on a computer screen. Through this method the exact location of the lymphatic blockages can be identified.

Etiology:

The cause of lymphoedema tarda is a break in the FOXC2 gene.

Complications:

The usual complications involved with the condition include fibrosis of the limb tissues, cellulitis (and or lymphangitis and erysipelas infections). Other complications made include involvement of the genitalia, pain, skin conditions and in very rare situations lymphangiosarcoma.

Treatment

Decongestive therapy is the most widely accepted form of treatment. There is no cure for lymphoedema tarda but the condition can be managed by early diagnosis and treatment.

Prognosis

Long term prognosis is excellent is the condition is identified early and treatment begins so after the diagnosis is made.

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Spreading Lymphedema

Does lymphoedema Spread to Other Areas of Your Body?

Discussion:

Can lymphoedema spread from your legs to your abdomen? Can it spread to your arms? This question has been asked on every online support group I am in, and it has been asked many times. From the life experience of those of us who have experienced this, we would have to answer with a resounding yes!

Disclaimer:

I am putting a disclaimer on this article only because I am not a doctor and neither are the lymphoedema patients who have asked this question on the various list to which I am a member. We are only people attempting to understand what in the world is going on with our bodies and attempting to answer a question that the medical world is either silent about or oblivious to.

Cause:

Primary lymphedema patients are always at risk for lymphoedema to present in unaffected limbs. This is because there is already a damaged lymphatic system in place at birth. Whether this occurs from an in-utero problem or is genetically based the possibility is there.

A clear example of this are my own arms. I was born with bi-lateral lymphoedema of the legs. As a teenager, I began to have lymphoedema in my right hand. Last year as a result of months of IV and piclines antibiotics in my left arm, it now swells. This year after the insertion of a port a cath in my chest, it seems I am now having "bloating" of the abdomen that I have never had.

Other causes for primary and secondary lymphoedma patients to experience new swelling in unaffected areas include infections, IV therapy in the arms, fluid overload of the lymphatics in existing lymphoedema areas causing the fluid to "backup" (i.e. from legs to abdomen), further damage to existing lymphaics due to fibrosis and even an injury in an unaffected area.

How Can I Tell if My Lymphedema Has Spread?

For limb lymphoedema, the answer is surprisingly simple. If you have a limb that is normal and it begins to swell with no apparent reason, you should immediately suspect lymphoedema. It may be that you need a lymphoscintigraphy test of that limb.

For the abdomen, the answer is not so simple. If you have sudden swelling of the abdomen with no change in your dietary routine and the swelling is firm, you should suspect lymphoedema. Abdominal fat (overweight from dietary) is much much softer than fluid accumulation due to edema.

Treatment:

If you suspect this has occurred with you, you should immediately discuss the problem with your therapis and doctor and begin the appropriate treatment.

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Lymphoedema Genes

There is finally much research going on regarding genetics and lymphedema. The specific gene (FOXC2) that is responsible for LE has been identified and experiments are being conducted in gene therapy with mice.
The FOXC2 is referred to as a forkhead gene, one of 17 thus far identified in humans. Because it is a pleiotrophic developmental gene, a mutation can cause multiple effects.

While this research is in its infancy, it does bring a very big light of hope that one day primary lymphedema can be stopped or prevented.

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KINDS OF PRIMARY LYMPHOEDEMA

LYMPHOEDEMA ASSOCIATION OF AUSTRALIA

What Are the Different Kinds of Primary Lymphoedema?

There are many different kinds of primary lymphoedema. Some are hereditary, but most are not. The list is far from complete. There are many syndromes which include lymphoedema, but they are rare syndromes. Listed below are a few of the identified syndromes.

Idiopathic Lymphoedema -Not Running in Families

This is the most common form of primary lymphoedema. As the name implies, this is primary lymphoedema of an unknown origin, and is not a part of a syndrome of other symptoms. It appears at birth or later on in an individual (more often female). Although it most commonly affects one lower extremity, it can affect any part of the body. It is not found in other family members because it is not hereditary and cannot be passed on to children. Lymphoscintigram findings will not show an obstruction as it would in acquired/secondary lymphoedema. Instead usually it will indicate a hypoplasia (underdevelopment of lymphatic vessels).

Primary Hereditary Lymphoedemas: Lymphoedemas Which Run in Families

Milroy’s Syndrome [also called Nonne-Milroy Syndrome]: Lymphoedema present at birth. Often the problem is a lack of initial lymphatics. [Autosomal Dominant,* chromosome 5]

Meige’s Syndrome : Like Milroy’s, but the lymphoedema does not appear until later: lymphoedema praecox (before 35) or lymphoedema tarda (after 35). [Autosomal Dominant]

Primary Hereditary Lymphoedemas with other symptoms

Yellow Nail Syndrome [Samman-White Syndrome]: Syndrome which includes discoloured thickened nails, pulmonary problems, and lymphoedema. Onset is usually childhood or early adulthood. (Autosomal Dominant)

Sharp-Aagenaes Syndrome: Distinguished by neonatal cholestasis (stoppage of bile excretion) with jaundice. The lymphoedema develops in early childhood and is equally seen in males and females. (Autosomal Recessive,* chromosome 15)

Lymphoedema with Distichiasis (Falls-Kertesz Syndrome): As well as lymphoedema, there is an extra row of eyelashes (distichiasis); problems also include a widened spinal canal and other related problems. Onset is usually adolescence. (Autosomal Dominant, chromosome 16)

Avasthey-Roy Syndrome: As well as lymphoedema, there are arteriovenous malformations and pulmonary hypertension. Onset is usually adolescence. [Autosomal Dominant]

Hennekam’s Syndrome: Lymphoedema of face, genitals, and limbs; the face and nose are flat, the mouth narrow, the chin large, the ear malformed, the eyes protruding, the fingers can be webbed, the thumb large. There can be mild mental retardation. [Autosomal Recessive]

Noonan’s Syndrome: Includes webbed neck, protruding upper chest, receding lower chest, cardiomyopathy, short stature. Appears very similar to Turner’s Syndrome, below, except is not sex-linked.. [Autosomal dominant, chromosome 12]

Jeken’s Syndrome: Includes mental retardation, abnormal fat distribution at buttocks, and ataxia. Lymphoedema onset is during infancy. [Autosomal recessive, chromosome 16]

Figueroa Syndrome: Cleft palate; lymphoedema starts during childhood or adolescence. [Autosomal dominant]

Primary Lymphoedemas Associated with other Syndromes- Do Not Run In Families

Klippel-Trenaunay-Weber Syndrome: Venous and arterial alterations are present; when the lymph vessels are involved, they are frequently varicose. In Weber’s Syndrome, the bones of a limb are also hypertrophied (larger).[not hereditary]

Turner Syndrome: Affects only females because it is sex-linked.* Frequently the lymphatic system, (specifically the valves), is underdeveloped, resulting in childhood lymphoedema. This sometimes resolves by adolescence. Other features of Turner’s Syndrome include short stature, infertility, and sometimes problems with the heart, kidney, or thyroid.(XO instead of XX chromosome; not hereditary]

*Some Basic Genetics Terms:

Autosomal: a gene that is not on the sex-linked chromosome(x and y are the sex-linked chromosomes)

Dominant: only one of these genes must be present for the trait to exhibit itself

Recessive: the gene must be present from both parents for the trait to exhibit itself; a person with only one of the genes is said to be a carrier.

Incomplete penetrance: the situation when the dominant gene or two recessive genes are present, so the person should exhibit the trait, but in a certain percentage of cases, this does not happen

Ackowledgement

Lymphoedema Association of Australia

www.lymphoedema.org.au

http://www.lymphoedema.org.au/news_let.htm
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