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PubMed1981

Familial lymphedema praecox: Meige's disease.

Familial lymphedema should be classified in two categories depending on onset. Milroy's disease, or congenital hereditary lymphedema, is present from birth, painless, without tendency to ulcerate, and may have cholestasis or intestinal lymphangiectasia associated with it. Meige's disease, hereditary lymphedema praecox, is lymphedema with onset in the first or second decade, often presenting with inflammation, and may have a number of associated related anomalies including distichiasis, extradural cysts, vertebral anomalies, cerebrovascular malformation, yellow nails, and sensorineural hearing loss. Both types follow an autosomal dominant pattern. This paper presents a family of 39 persons in 5 generations with 13 affected persons having Meige's disease. The importance of recognizing this type of familial lymphedema is discussed.

Adult↗
PubMed2002

Research perspectives in inherited lymphatic disease.

The hereditary lymphedemas provide an opportunity to identify genes involved in normal and deranged lymphatic development. Genetic analysis of families with Milroy's disease identified mutations in VEGFR3 as a cause of congenital lymphedema, confirming the importance of VEGFC/VEGFR3 signaling in lymphatic development. These observations led to the identification of a mouse model for primary lymphedema, and subsequent analysis of this mouse model, using transgenic and gene transfer techniques, has provided initial clues to the development of a biologically based therapy for primary lymphedema. Of more importance from a public health perspective is the fact that manipulation of this pathway may lead to effective therapies for the more prevalent forms of secondary lymphedema. Identification of FOXC2 as the gene mutated in the lymphedema-distichiasis syndrome has revealed new molecular insight into lymphatic development. Molecular analysis of the FOXC2 pathway may provide clues to developmental pathways shared by the lymphatic system and the other developmental abnormalities associated with this complex syndrome. With improving knowledge of the human genome, genetic analysis of families with lymphedema continues to offer one of the most promising approaches to identifying genes influencing lymphatic development.

DNA-Binding Proteins↗
PubMed1991

Hereditary lymphedema and distichiasis.

Two patients with lymphedema-distichiasis syndrome illustrate that both Milroy's disease and late-onset hereditary lymphedema are sometimes associated with distichiasis. It is important for ophthalmologists to be aware of the lymphedema-distichiasis syndrome because of its ophthalmic manifestations and the associated systemic abnormalities that can be potentially life threatening.

Adolescent↗
PubMed1979

Intestinal lymphangiectasia and colonic polyps: surgical intervention.

A 36-mo-old boy with Milroy's Disease, intestinal lymphangiectasia, and an exudative enteropathy (EE), was shown to have four colonic polyps. A large adenomatous polyp was excised from the transverse colon in an effort to control his EE and hypoalbuminemia (1.95 g/dl). His clinical status then stabilized until age 50 mo when there was a marked exacerbation of his EE. Medical management resulted in a temporary stabilization of his condition. A partial resection (40 cm) of the visually worse affected jejunum was performed. There was no improvement in the EE as measured by 51Cr-tagged albumin study; however, his clinical response was dramatic. In the 10 mo since surgery, he has been well and has shown catchup in linear growth.

Child, Preschool↗
PubMed2002

[Physiopathology of lymphedema].

Edema is defined as an excess of interstitial fluids. Its appearance is always linked to a relative functional insufficiency of the lymphatic drainage, but the use of the word lymphedema is restricted to the conditions where the lymphatic insufficiency is the primary pathogenetic factor of edema formation. The lymphatic insufficiency may result from: 1) an incompetence of the lymphatic capillaries, either due to their aplasia (Milroy's disease) or to their destruction (lipodermatosclerosis of chronic venous insufficiency); 2) an insufficiency of the lymphatic collectors related to their hypoplasia (primary lymphedema), or their destruction by trauma, infection or carcinologic treatments; a drug related functional insufficiency of lymphatic collectors is probable, but more data are needed on this topic; 3) pathologic lymphatic nodes (surgical excision, invasion by hematological disorders or cancer) could interfere with their ability to concentrate lymphatic fluids. Local tissue changes in the lymphedematous limbs are important and should be taken into account in the care management of such patients.

Humans↗
PubMed2001

A model for gene therapy of human hereditary lymphedema.

Primary human lymphedema (Milroy's disease), characterized by a chronic and disfiguring swelling of the extremities, is associated with heterozygous inactivating missense mutations of the gene encoding vascular endothelial growth factor C/D receptor (VEGFR-3). Here, we describe a mouse model and a possible treatment for primary lymphedema. Like the human patients, the lymphedema (Chy) mice have an inactivating Vegfr3 mutation in their germ line, and swelling of the limbs because of hypoplastic cutaneous, but not visceral, lymphatic vessels. Neuropilin (NRP)-2 bound VEGF-C and was expressed in the visceral, but not in the cutaneous, lymphatic endothelia, suggesting that it may participate in the pathogenesis of lymphedema. By using virus-mediated VEGF-C gene therapy, we were able to generate functional lymphatic vessels in the lymphedema mice. Our results suggest that growth factor gene therapy is applicable to human lymphedema and provide a paradigm for other diseases associated with mutant receptors.

Adenoviridae↗
PubMed1984

The dermal lymphatics in lymphoedema visualized by indirect lymphography.

Iotasul, a new water-soluble contrast medium, is very suitable for subepidermal infusion (indirect lymphography) for the demonstration of small (initial) dermal lymphatics in the macro-range (precollectors). By this method normal lymph vessels can be demonstrated in the healthy skin of hands and feet which are so fine that they cannot be punctured for direct lymphography. We studied thirty-eight patients with various forms of lymphoedema by indirect lymphography. In patients with congenital lymphoedema (particularly Milroy's disease) the initial dermal lymphatics in the lymphoedematous region were absent but large lymph collectors were present. Hyperplasia of dermal lymphatics in the form of an extremely fine net was seen in most patients with lymphoedema praecox and tardum. In some forms of primary lymphoedema the defect may be in the initial dermal lymphatics. In secondary lymphoedema, the changes in the peripheral lymphatics (mainly distension and congestion) are apparently a consequence of the primary lesion in the lymph nodes and large collectors. Indirect lymphography might be useful for the early diagnosis of mild lymphoedema and for excluding patients with hypoplasia of initial lymph vessels from surgery.

Adolescent↗
PubMed2006

Transcapillary fluid balance consequences of missing initial lymphatics studied in a mouse model of primary lymphoedema.

To investigate the phenotypic consequences of a deranged lymphangiogenesis in relation to tissue fluid accumulation and the possible role of inflammation in the pathogenesis of lymphoedema, we measured determinants of transcapillary fluid filtration and inflammatory mediators in the interstitial fluid in genetically engineered Chy mice, a model for primary congenital lymphoedema (Milroy's disease). Although initial lymphatics were not present in dermis in any of the areas studied (fore paw, hind paw, thigh and back skin) interstitial fluid pressure (P(if)), measured with micropipettes, and tissue fluid volumes were significantly increased only in the areas with visible swelling - the fore and hind paw, whereas interstitial colloid osmotic pressure (COP(if)) was increased in all the skin areas examined. A volume load of 15% of body weight resulted in a more pronounced increase in P(if) as well as a four-fold increase in interstitial fluid volume in Chy relative to wild-type (wt) mice, showing the quantitative importance of lymphatics for fluid homeostasis during acute perturbations. A similar level of proinflammatory markers in interstitial fluid in early established lymphoedema (3-4 months) in Chy and wt suggests that inflammation does not have a major pathogenetic role for the development of lymphoedema, whereas a reduced level of the immunomodulatory cytokine interleukin (IL)-4 may result in a reduced immunological defence ability and thus lead to the increase in inflammatory cytokines IL-2 and IL-6 observed at a later stage (11-13 months). Our data suggest that primary lymphoedema results in a high interstitial fluid protein concentration that does not induce an interstitial inflammatory reaction per se, and furthermore shows the paramount importance of the initial lymphatics in tissue fluid homeostasis, especially during perturbations of transcapillary fluid balance.

Animals↗
PubMed1986

Chronic lymphangiectasis in Turner's syndrome.

A 3 1/2-year-old female presented with Turner's syndrome and Nonne-Milroy-Meige disease. Ocular findings included strabismus and bilateral chemosis which was unchanging and persisted throughout the four years the patient was followed up. Histopathological findings included diffuse lymphangiectasia and dense connective tissue surrounding the dilated lymph channels. Although the association between congenital lymphoedema and Turner's syndrome is common, the lymphoedema usually disappears by the first year of life. The persistence of the lymphoedema beyond this age is rare, as is the presence of the persistent chemosis. This report represents the first histopathological documentation of congenital lymphangiectasis in association with Turner's syndrome.

Child, Preschool↗
PubMed1985

[New aspects of lymphedema].

Present knowledge on primary and secondary lymphedema of the extremities is reviewed. Conventional lymphography with contrast media requires surgical cannulation of pedal lymphatics and is indicated only in a few specific situations. Clinical findings, results of the patent blue test and possibly fluorescence microlymphography with fluorescent dextrans, indirect lymphography with iotasul, or isotope studies, suffice for correct diagnosis. In hereditary lymphedema present at birth (Milroy's disease) the lymphatic capillaries and precollectors are aplastic, whereas in sporadic lymphedema with postpubertal onset the large collectors are hypoplastic or aplastic. Conventional lymphography still yields the best results in differentiating between primary lymphedema with aplasia of the aorto-iliac collectors and a secondary form due to neoplastic disease. Combined physical therapy with tight bandages and stockings, massage and use of pneumatic devices for intermittent compression considerably reduces the edema and renders surgery unnecessary in most patients. Diuretics have a beneficial effect during early management, and benzopyrones for longterm treatment.

Adolescent↗
PubMed1993

Microlymphatics of human skin.

Microlymphatics of human skin form two superposed networks. The superficial one located at the level of dermal papillae may be visualized by fluorescence microlymphography. Microlymphatics fill from a subepidermal depot of minute amounts of FITC-dextran 150,000. In primary lymphedema with late onset the depicted network with vessels of normal size is significantly larger than in healthy controls, whereas in congenital lymphedema (Milroy's disease) microlymphatics are aplastic or ectatic (diameter > 90 microns). Lymphatic microangiopathy with obliterations of microvessels develops in chronic venous insufficiency, in lipedema (preliminary results) and after recurrent erysipelata. In healthy controls microlymphatics are permeable to FITC-dextran 40,000 and impermeable to the larger molecule 150,000. Preserved fragments of the network in chronic venous insufficiency exhibit increased permeability to FITC-dextran 150,000. After visualization of the vessels by the fluorescent dye microlymphatic pressure may be measured by the servo-nulling technique. First results indicate that microlymphatic hypertension contributes to edema formation in patients with primary lymphedema.

Edema↗