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Lymphedema Avasthey Roy Syndrome

Clinical 

Hereditary lymphedema syndrome associated with Lymphedema Praecox or Meige Lymphedema. First described by Avasthey and Roy in 1968. Complications include arteriovenous malformations and pulmonary hypertension.

Cause

Malformation or mutation of FOXC2 gene.  There is a new study out however, indicating that FOXC2 does not cause this condition of lymphedema meige.  More defining research is needed.

Treatment

Decongestive therapy for lymphedema.

Surgery, embolization and radiosurgery for arteriovenous malformations.

Medications and surgical correction for the pulmonary hypertension.

Pat O'Connor

May 29, 2008

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LYMPHEDEMA AND CEREBRAL ARTERIOVENOUS ANOMALY

Avasthey Roy in 1968 reported a woman with lymphedema of the feet beginning in her teens and a cerebrovascular anomaly indicated by a loud systolic bruit over the temples and transmitted down the carotids. A son, aged 20 years, likewise had foot lymphedema and a cranial bruit and by angiogram a large extracranial arteriovenous malformation over the parietal region. Two other sons had lymphedema, cerebrovascular malformation, and primary pulmonary hypertension. One son was normal and the only daughter had lymphedema of both feet and bilateral temporoparietal bruit.

http://omim.org/entry/152900

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

Ackowledgement

Lymphoedema Association of Australia[/b]

www.lymphoedema.org.au

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OMIM #153200

LYMPHEDEMA, HEREDITARY, II

Alternative titles; symbols

MEIGE LYMPHEDEMA
LYMPHEDEMA, LATE-ONSET
LYMPHEDEMA PRAECOXGene map locus 16q24.3

TEXT

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). 30 MEDLINE Neighbors

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. 30 MEDLINE Neighbors

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). 30 MEDLINE Neighbors

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. 30 MEDLINE Neighbors

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. 30 MEDLINE Neighbors

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.

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. 30 MEDLINE Neighbors

SEE ALSO

Juchems (1963); Osterland (1961); Wheeler et al. (1981)

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

wwang : 4/18/2008

carol : 11/19/2003
ckniffin : 11/12/2003
alopez : 10/3/2002
alopez : 10/3/2002
alopez : 10/3/2002
cwells : 10/22/2001
terry : 4/18/1995
mimadm : 11/6/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988

Copyright © 1966-2004 Johns Hopkins University

http://omim.org/entry/153200

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External Links:

Arteriovenous Malformation Information Page

http://www.ninds.nih.gov/health_and_medical/disorders/avms_html.htm

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Pulmonary Hypertension Association

http://www.phassociation.org

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Pulmonary Hypertension - PHCentral

http://www.phcentral.org

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Pat O'Connor

Lymphedema People / Advocates for Lymphedema

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Lymphedema People - Support Groups

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Children with Lymphedema

The time has come for families, parents, caregivers to have a support group of their own. Support group for parents, families and caregivers of chilren with lymphedema. Sharing information on coping, diagnosis, treatment and prognosis. Sponsored by Lymphedema People.

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Lipedema Lipodema Lipoedema

No matter how you spell it, this is another very little understood and totally frustrating conditions out there. This will be a support group for those suffering with lipedema/lipodema. A place for information, sharing experiences, exploring treatment options and coping.

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MEN WITH LYMPHEDEMA

If you are a man with lymphedema; a man with a loved one with lymphedema who you are trying to help and understand come join us and discover what it is to be the master instead of the sufferer of lymphedema.

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Support group for parents, patients, children who suffer from all forms of lymphangiectasia. This condition is caused by dilation of the lymphatics. It can affect the intestinal tract, lungs and other critical body areas.

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Lymphatic Disorders Support Group @ Yahoo Groups

While we have a number of support groups for lymphedema... there is nothing out there for other lymphatic disorders. Because we have one of the most comprehensive information sites on all lymphatic disorders, I thought perhaps, it is time that one be offered.

DISCRIPTION

Information and support for rare and unusual disorders affecting the lymph system. Includes lymphangiomas, lymphatic malformations, telangiectasia, hennekam's syndrome, distichiasis, Figueroa
syndrome, ptosis syndrome, plus many more. Extensive database of information available through sister site Lymphedema People.

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How to Treat a Lymphedema Wound 

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Fungal Infections Associated with Lymphe dema 

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Lymphedema in Children 

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