Lymphedema Avasthey Roy Syndrome
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.
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.
Decongestive therapy for lymphedema.
Surgery, embolization and radiosurgery for arteriovenous malformations.
Medications and surgical correction for the pulmonary hypertension.
May 29, 2008
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.
Avasthey-Roy Syndrome: As well as lymphedema, there are arteriovenous malformations and pulmonary hypertension. Onset is usually adolescence. [Autosomal Dominant]
Lymphoedema Association of Australia[/b]
Alternative titles; symbolsMEIGE LYMPHEDEMA
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).
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.
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.
George E. Tiller - updated : 10/22/2001
Victor A. McKusick : 6/2/1986
wwang : 4/18/2008
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
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