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lymphedema_praecox_meige_syndrome

Lymphedema Praecox Meige Syndrome

Nonne-Milroy-Meige Syndrome, Meige's lymphedema, Hereditary lymphedema II, familial lymphedema praecox

Form of primary hereditary lymphedema 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 lymphedema in 1891. This form of lymphedema which usually presents itself at or during puberty is the most common of the hereditary lymphedemas, account for 65-80% of all diagnosed cases.

Meige-Type Lymphedema

Also known as Lymphedema II, this syndrome is similar to Lymphedema 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 Lymphedema Praecox is mutation of the FOXC2 gene.

Stages of Lymphedema Praecox Meige Syndrome

There are three basic stages active of lymphedema. The earlier lymphedema 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 lymphedema, 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 lymphedema

LATENCY STAGE

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

STAGE I

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

STAGE II

(Spontaneously Irreversible Lymphedema) 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.)

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 lymphodemous limbs are localized immunodeficient and the proein rich fluid provides an excellent nurturing invironment for bacteria.

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. See Lymphedema and Pain Management.

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 lymphedema.

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 dry skin, splitting, plaques and nodules, susceptibility to fungus and bacterial infections.

11. Chronic localized inflammations.

12. Pain ranging from mild in early lymphedema to severe in late stage lymphedema.

13. Lymphatic cancers which can include angiosarcoma, lymphoma; Kaposi's Sarcoma; lymphangiosarcoma (Stewart_treves Syndrome); Cutaneous T-Cell lymphoma; Cutaneous B-Cell lymphoma; Pseudolymphomatous Cutaneous Angiosarcoma. See also: Primary Lymphedema and Cancer for a discussion and Lymphatic Cancers Secondary to Lymphedema.

Note: These cancers are rare and are usually associated with long term, untreated or improperply treated lymphedema. Typically occuring in stage three or four; quite rare in stage two.

14. Skin complications possible in stages 3 and 4 include papillomatosis; placques including “cobblestone” appearing placque; dermatofibroma; Skin Tags; Warts and Verrucas; Mycetoma skin fungus; dermatitis and many lymphedema patients report increased problems with psoriasis; eczema and shingles. I would suspect this may be due to again, the immunocompromised condition of the arm or leg afflicted with lymphedema.

15. Documented but rare complications in late stage also can include Lymphomatoid Papulosis; Cutis Marmorata; Acroangiodermatitis; Dermatolymphangioadenitis (DLA); Papillomatosis cutis carcinoides

16. Debilitating joint problems. This is caused by a combination of the excess fluid weight and the constant inflammatory process that accompanies lymphedema. As we have gotten older, many lymphedemapatients are having total knee replacement, total hip replacement, or total shoulder replacement while others are experiencing carpal tunnel syndrome and are having carpal tunnel surgery or experiencing shoulder problems associated with lymphedema and must haverotator cuff surgery

Lymphedema Praecox Meige Syndrome and Tissue Fibrosis

Long standing lymphedema causes a condition known as fibrosis. As the fluid continually collects in a limb, it becomes hard and dense. With each stage of lymphedema 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 lymphedema. 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.

Lymphedema Praecox Meige Syndrome and Cellulitis

Acute Cellulitis is one of the complications of lymphedema. 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 lymphedema limb. The patients often describe this as a “flu like symptom or an ache” involving the Lymphedema 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 one week 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 Lymphedema 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 Lymphedema 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.

Treatment of Lymphedema Praecox Meige Syndrome

The treatment for leg lymphedema is much the same as treatment for arm lymphedema. The preferred treatment is decongestive therapy. See also manual lymphatic drainage mld complex decongestive therapy cdt. However, there is an important exception and that is pneumatic compression pumps should not be used in leg lymphedema.

During the course of treatment, the leg will be wrapped in compression bandages after the treatment session. Upon completion of the treatment, compression sleeves and leg garments will be prescribed. There is one final and critical area pertaining to the treatment, control and management of lymphedema, and that is exercise. Not only is it vital for our over all health, it helps in weight control and is important for the movement of lymph fluid through our body. No matter the stage of lymphedema, underlying medical conditions or age, everyone of us should have a plan for exercises for lymphedema. Sometimes too, the process we must go through to get our treatment covered is maddening to say the least. You made need to learn how_to_file_a_health_insurance_appeal to reverse a coverage or treatment denial and you may even have to learn the process how to file a complaint against your insurance company with your state commissioner.

Associated Conditions

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

Prognosis

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

MEIGE LYMPHEDEMA, LYMPHEDEMA, LATE-ONSET, LYMPHEDEMA PRAECOX

#153200 LYMPHEDEMA, HEREDITARY, II

Online Mendelian Inheritance in Man

John Hopkins University MEIGE LYMPHEDEMA LYMPHEDEMA, LATE-ONSET LYMPHEDEMA PRAECOX Gene map locus 16q24.3

A number sign (#) is used with this entry because of evidence that hereditary lymphedema type II is caused by mutation in the forkhead family transcription factor gene MFH1 (FOXC2; 602402). Allelic disorders with overlapping features include the lymphedema-distichiasis syndrome (153400), lymphedema and ptosis (153000), and lymphedema and yellow nail syndrome (153300). Also see hereditary lymphedema type I, or Milroy disease (153100).

CLINICAL FEATURES

Edema, particularly severe below the waist, develops about the time of puberty. Meige (1898) described 8 cases in 4 generations without male-to-male transmission. Goodman (1962) reported the condition in 2 sisters and a brother with presumed normal parents who were not known to be related. Herbert and Bowen (1983) described a kindred with many cases of lymphedema of postpubertal onset. Involvement of the upper limbs (as well as the lower limbs), face, and larynx and, in one, a persistent pleural effusion were notable features. Scintilymphangiography indicated paucity or absence of lymph nodes in the axillae and above the inguinal ligaments. Chronic facial swelling resulted in a characteristic appearance of affected members including puffiness, shiny skin, deep creases, and, in some, excessive wrinkling. Emerson (1966) noted similar facial features and remarked on the possible erroneous diagnosis of myxedema.

Herbert and Bowen (1983) noted the difficulties of nosology. For example, because lymphedema and yellow nail syndrome has yellow or dystrophic nails as a variable feature, this could be the same disorder. They pointed also to the association of late-onset lymphedema with deafness (Emberger et al., 1979) and with primary pulmonary hypertension and cerebrovascular malformations (152900; Avasthey and Roy, 1968).

Figueroa et al. (1983) reported the association of cleft palate. In their family, the mother, with only lymphedema praecox of the legs, gave birth to 5 sons, 3 of whom had both lymphedema of the legs and cleft palate. A mild form of lymphedema affecting mainly the medial aspect of both ankles in a 21-year-old son was pictured.

Andersson et al. (1995) described a family in which 3 individuals, a grandmother, her son and her grandson, had onset of lymphedema in their mid-20s or 30s. The grandson was 23 years old when he had his first episode of lymphedema, which was thought to be due to thrombophlebitis. During the ensuing decade, he had episodic waxing and waning of lymphedema of both lower limbs and was treated with anticoagulant therapy. At the age of 35, he developed lymphangiosarcoma on the inner right thigh and died of metastases some months later. Lymphangiosarcoma, usually associated with postmastectomy lymphedema, had not been described previously in late-onset hereditary lymphedema. Andersson et al. (1995) raised the question of whether a genetic predisposition to malignancy combined with the lymphedema was etiologically significant. There seemed to be an unusually high frequency of cancer (uterine, colon, lung, prostate, breast, and bone) in the proband's family.

MOLECULAR GENETICS

Finegold et al. (2001) found a mutation in the FOXC2 gene (602402.0007) in a family with Meige lymphedema and also in a family with yellow nail syndrome.

Lymphedema praecox

Dermatology Online Journal

HETEROGENEITY

Finegold et al. (2001) noted that the phenotypic classification of dominantly inherited lymphedema includes Milroy disease (hereditary lymphedema I), Meige lymphedema (hereditary lymphedema II), lymphedema-distichiasis syndrome, lymphedema and ptosis, and yellow nail syndrome. The phenotypes reported in their 11 families overlapped the findings reported in Meige lymphedema, lymphedema-distichiasis syndrome, lymphedema and ptosis, and yellow nail syndrome, but not in Milroy disease. Milroy disease is associated with mutation in the FLT4 gene (136352), whereas mutations in the FOXC2 gene were observed in the 4 lymphedema syndromes that had phenotypic overlap.

REFERENCES

1. Andersson, H. C.; Parry, D. M.; Mulvihill, J. J. : Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications. Am. J. Med. Genet. 56: 72-75, 1995. PubMed ID : 7747790 2. Avasthey, P.; Roy, S. B. : Primary pulmonary hypertension, cerebrovascular malformation, and lymphoedema of the feet in a family. Brit. Heart J. 30: 769-775, 1968. PubMed ID : 5718986 3. Emberger, J. M.; Navarro, M.; Dejean, M.; Izarn, P. : Surdi-mutite, lymphoedeme des membres inferieurs et anomalies hematologiques (leucose aigue cytopenies) a transmission autosomique dominante. J. Genet. Hum. 27: 237-245, 1979. PubMed ID : 295075 4. Emerson, P. A. : Yellow nails, lymphoedema, and pleural effusions. Thorax 21: 247-253, 1966. PubMed ID : 5914998 5. Figueroa, A. A.; Pruzansky, S.; Rollnick, B. R. : Meige disease (familial lymphedema praecox) and cleft palate: report of a family and review of the literature. Cleft Palate J. 20: 151-157, 1983. PubMed ID : 6342849 6. Finegold, D. N.; Kimak, M. A.; Lawrence, E. C.; Levinson, K. L.; Cherniske, E. M.; Pober, B. R.; Dunlap, J. W.; Ferrell, R. E. : Truncating mutations in FOXC2 cause multiple lymphedema syndromes. Hum. Molec. Genet. 10: 1185-1189, 2001. PubMed ID : 11371511 7. Goodman, R. M. : Familial lymphedema of the Meige's type. Am. J. Med. 32: 651-656, 1962 8. Herbert, F. A.; Bowen, P. A. : Hereditary late-onset lymphedema with pleural effusion and laryngeal edema. Arch. Intern. Med. 143: 913-915, 1983. PubMed ID : 6679236 9. Juchems, R. : Das hereditaere Lymphoedem, Typ Meige. Klin. Wschr. 41: 328-332, 1963. 10. Meige, H. : Dystrophie oedemateuse hereditaire. Presse Med. 6: 341-343, 1898. 11. Osterland, G. : Beobachtungen zum Nonne-Milroy-Meige-Syndrom. Z. Menschl. Vererb. Konstitutionsl. 36: 108-117, 1961. PubMed ID : 14482593 12. Wheeler, E. S.; Chan, V.; Wassman, R.; Rimoin, D. L.; Lesavoy, M. A. : Familial lymphedema praecox: Meige's disease. Plast. Reconst. Surg. 67: 362-364, 1981. PubMed ID : 7232571 CONTRIBUTORS George E. Tiller - updated : 10/22/2001 CREATION DATE Victor A. McKusick : 6/2/1986 EDIT HISTORY carol : 11/19/2003 PubMed

Lymphedema People Related Articles

Pleural Effusions and Lung Edema

Lymphedema Distichiasis

Yellow Nail Syndrome

External Links

Meige Lymphedema Genetics Home Reference

FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome

Age of Onset in Hereditary Lymphedema

Lymphedema Praecox

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