I have not been well as soon as I am I will again be posting 04/10/13

Lymphatic edema in congenital disorders of glycosylation.

Lymphatic edema in congenital disorders of glycosylation.

2012

Verstegen RH, Theodore M, van de Klerk H, Morava E.

Source

Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

Abstract

Congenital disorders of glycosylation (CDG) are a group of metabolic disorders caused by deficient protein glycosylation. PMM2-CDG, the most common CDG, is caused by phosphomannomutase (PMM) deficiency. Clinical symptoms often include neurological involvement in addition to dysmorphic features, failure to thrive, cardiac failure, renal, and endocrine abnormalities. To our knowledge, lymphatic edema in CDG has not been reported. We present two cases of lymphatic edema in PMM2-CDG patients. The first patient was noted to have a larger right leg circumference at two years. Ultrasound investigations did not reveal any obvious vascular or lymphatic malformation. The swelling increased in size over time. At 12 years, lymphoscintigraphy revealed decreased lymphatic draining in both legs, which was more profound in the right leg. The second patient was treated for pulmonary stenosis at age 2 months. 

Postoperative, the patient suffered from protein-losing enteropathy, hypothyroidism, recurrent bacterial infections, and bilateral lymphatic edema. General condition improved after thyroxin treatment and albumin infusions; however, the bilateral pedal and leg edema remained unresolved. Contrast studies of the lymphatic system showed bilateral hypoplasia distal to the knees. Although both children had secondary factors worsening lymphatic edema in PMM2-CDG, hypoalbuminemia, recurrent infections, cardiac failure, and endocrine abnormalities could not fully explain the clinical features. The additional factors were treated successfully but the therapy did not resolve the lymphatic edema. Based on the abnormal imaging studies of the lymphatic system, we propose that lymphatic vessel hypoplasia is the major cause for lymphatic edema in our patients with PMM2-CDG.

PubMed

My Life with Lymphedema - The Real One

My Life with Lymphedema - The Real One

Please do not be misled friends,

Evidently a person with lymphedema has started a My Life with Lymphedema group elsewhere and it is NOT connected to me in any way.

What does it say about a person's moral and ethical outlook, if they feel it is ok to lie and cheat people to get readership.

Shame, shame and more shame.  

To do that against someone else with this horrid condition is totally pathetic.

This blog was the ORIGINAL, started many years before the other one was even thought of.

Pat O'Connor
Lymphedema People
My Life with Lymphedema - Blogger.com

A Mutation in VEGFC, a Ligand for VEGFR3, is Associated with Autosomal Dominant Milroy-like PrimaryLymphedema.

A Mutation in VEGFC, a Ligand for VEGFR3, is Associated with Autosomal Dominant Milroy-like Primary Lymphedema.

Feb 2013

Gordon K, Schulte D, Brice G, Simpson MA, Roukens MG, van Impel AW, Connell F, Kalidas K, Jeffery S, Mortimer PS,Mansour S, Schulte-Merker S, Ostergaard P.

Source

1Department of Clinical Sciences, St George's University of London, Cranmer Terrace, London, N/A, SW17 0RE, UNITED KINGDOM.

Abstract

Rationale: Mutations in VEGFR3 (FLT4) cause Milroy Disease (MD), an autosomal dominant condition that presents with congenital lymphedema. Mutations in VEGFR3 are identified in only 70% of patients with classic MD, suggesting genetic heterogeneity. 

Objective: To investigate the underlying cause in patients with clinical signs resembling MD in whom sequencing of the coding region of VEGFR3 did not reveal any pathogenic variation. 

Methods and Results: Exome sequencing of five such patients was performed and a novel frameshift variant, c.571_572insTT in VEGFC, a ligand for VEGFR3, was identified in one proband. The variant co-segregated with the affected status in the family. An assay to assess the biological function of VEGFC activity in vivo, by expressing human VEGFC in the zebrafish floorplate was established. Forced expression of wild type human VEGFC in the floorplate of zebrafish embryos leads to excessive sprouting in neighbouring vessels. However, when overexpressing the human c.571_572insTT variant in the floorplate, no sprouting of vessels was observed, indicating that the base changes have a marked effect on the activity of VEGFC. 

Conclusions: We propose that the mutation in VEGFC is causative for the MD-like phenotype seen in this family. This is the first time a mutation in one of the ligands of VEGFR3 has been reported to cause primary lymphedema.

PubMed

See also:  Lymphedema Gene VEGFC

Review of the 25th World Congress of the International Union of Angiology, Prague, July 1-5, 2012

Review of the 25th World Congress of the International Union of Angiology, Prague, July 1-5, 2012

2012

[Article in Russian]

[No authors listed]

Abstract

The 25th World Congress of the International Union of Angiology was held in Prague from July 1st to 5th, 2012.There were a total of 586 reports (of these, there were 430 oral presentations and 255 poster presentations, highlighting many problems in arterial pathology: optimal methods of visualization and treatment of carotid arterial therosclerosis,endovascular recanalization of intracranial arteries and hybrid interventions on carotid arteries in acute period of ischaemic stroke, management of patients with asymptomatic atherosclerosis of carotid arteries, main problems in treatment of coronary artery atherosclerosis, complications of endovascular techniques, management of patients with aneurysms of the thoracic and abdominal portions of the aorta, as well as atherosclerosis of lower limb arteries. Special attention was paid to treatment of lower limb critical ischaemia and diabetic foot syndrome, problems concerning venous thromboembolism and methods of anticoagulant therapy, as well as genetic predictors of the development of venous diseases. Other problems discussed at the Congress were as follows: methods of endovascular treatment of chronic venous insufficiency, prevention and microsurgical interventions in treatment of lymphedema, the role of endovascular techniques in correction of arteriovenous malformations, and robot-assisted surgical interventions.

PubMed

Atypical presentation of congenital yellow nail syndrome in a 2-year-old female.

Jan-Feb 2013

Cecchini M, Doumit J, Kanigsberg N.

Abstract

Background: Yellow nail syndrome (YNS) is a rare clinical entity of unknown etiology that is characterized by a triad of yellow nails, respiratory manifestations, and lymphedema. The condition appears in the mid- to later years of life and only rarely in childhood. We describe a rare case of YNS with an atypical clinical presentation consisting of only yellow and dystrophic nails in a 2-year-old female since birth.

Objective: A case of congenital YNS with only dystrophic and yellow nails is reported.Methods and 

Results: A 2-year-old female presented with yellow nails since birth. There was no positive family history. Physical examination revealed 20 thickened, dystrophic, yellow nails with onycholysis. There was no evidence of respiratory manifestations or lymphedema.

Conclusion: Although rare, YNS can present as a congenital clinical entity and persist after birth. Pediatric patients with YNS show different clinical manifestations than the classic adult patient. The presence of yellow and dystrophic nails in the absence of respiratory and lymphatic manifestations may be the only sign of pathology and warrants close monitoring as progression to more serious complications can occur.

PubMed

see also:

Yellow Nail Syndrome

Early Diagnosis and Risk Factors for Lymphedema following Lymph Node Dissection for Gynecologic Cancer

Early Diagnosis and Risk Factors for Lymphedema following Lymph Node Dissection for Gynecologic Cancer.

**My only concern here is the way they reported one stat. In reporting that 50 individuals had dermal backflow (triggering swelling?). They weren't clear about this AND they reported all had symptoms go away within 3 months.  What that tells me (just a humble patient) is that these individual are very likely going to show up with lower limb LE during their life time.  The over all stats for gynecological cancer does in some cases, run about 50%. - Pat**

Early Diagnosis and Risk Factors for Lymphedema following Lymph Node Dissection for Gynecologic Cancer.

Feb 2013

Akita S, Mitsukawa N, Rikihisa N, Kubota Y, Omori N, Mitsuhashi A, Tate S, Shozu M, Satoh K.

Source

Chiba City, Japan From the Departments of Plastic, Reconstructive, and Aesthetic Surgery and Reproductive Medicine, Chiba University, Faculty of Medicine.

Abstract

BACKGROUND:
Although early diagnosis is important for selecting an effective surgical treatment for secondary lymphedema, an efficient screening test for detecting early-stage lymphedema has not yet been established. Serial changes of lymphatic function before and after lymph node dissection and risk factors for secondary lymphedema are important indicators.

METHODS:
A prospective cohort observational study was conducted with 100 consecutive gynecologic cancer patients who underwent pelvic lymph node dissection. Lymphatic function was assessed by noninvasive lymphography using indocyanine green fluorescence imaging on a routine schedule. Earliest findings after lymphadenectomy and risk factors for lower leg lymphedema were investigated.

RESULTS:
Atypical transient dermal backflow patterns were observed in an early postoperative period in 50 cases, all of which disappeared within 3 months. Of these patterns, the splash pattern was observed in 31 patients, of which five improved to normal following a natural course. In contrast, the stardust pattern was observed in 27 patients, and none had improved with conservative therapy. Postoperative radiotherapy was a significant risk factor for the stardust pattern.

CONCLUSIONS:
All patients who undergo lymphadenectomy for gynecologic malignancies should be examined for secondary lower extremity lymphedema by qualitative evaluation methods on a routine schedule to determine the earliest possible diagnosis. Because the splash pattern on indocyanine green lymphography is a reversible lymphatic disorder following a natural course, surgical treatments are not recommended. The decision regarding surgical treatment can be made after observing the stardust pattern.

CLINICAL QUESTION/LEVEL OF EVIDENCE:
Diagnostic, IV.

Pub Med

Lymphatic Drainage of the Neck

Lymphatic Drainage of the Neck

The lymphatic drainage of the head and neck.

dartmouth.edu

The lymphatic system drainage of the head and neck

A Closer Look at Lipedema and the Effects on the Lymphatic System

**Editor's note:  There is presently an article being published that frankly, has me very outraged.  When I can get the facts straight, I will be writing publicly about it.  In the meantime, because lipedema is mentioned in this article, I wanted to post some solid info on this condition.  The following is by Joachm Zuther, founder and director of the American Academy of Lymphatic Studies (ACOLS) and from his Lymphedema Blog.  I highly recommend both, the article and the blog. Pat**

BY JOACHIM ZUTHER, ON DECEMBER 13TH, 2012

Lipedema is characterized by symmetric enlargement of the limbs, generally affecting the lower extremities extending from the hips to the ankles secondary to the deposition of fat; upper extremities are affected in 30% (1) of the cases.  

Lipedema is not rare and not caused by a disorder of the lymphatic system, but is commonly misdiagnosed as bilateral lymphedema, extreme cellulitis, or morbid obesity.

Most commonly used synonyms for lipedema include:

• Adiposalgia/Adipoalgesia
• Adiposis dolorosa
• Lipalgia
• Lipomatosis dolorosa of the legs
• Lipodystrophia dolorosa
• Painful column leg
• 
  IMPORTANT: see remainder of article with diagnostic images:

A Closer Look at Lipedema and the Effects on the Lymphatic System

See also:

Lipedema

Lipedema Xanga

Support Group

Lipedema, Lipodema, Lipoedema

Complications of Autologous Lymph-node Transplantation for Limb Lymphoedema

Complications of Autologous Lymph-node Transplantation for Limb Lymphoedema


European Journal of Vascular and Endovascular Surgery
Available online 8 January 2013

·S. Vignes, , M. Blanchard, A. Yannoutsos, M. Arrault
Department of Lymphology, Centre National de Référence des Maladies Vasculaires 
Rares (lymphœdèmes primaires), Hôpital Cognacq-Jay, 15, rue Eugène Millon, 75015 
Paris, France

Objective

This study aims to assess potential complications of autologous lymph-node transplantation (ALNT) to treat limb lymphoedema.

Design

Prospective, observational study.

Method

All limb-lymphoedema patients, followed up in a single lymphology department, who decided to undergo ALNT (January 2004–June 2012) independently of our medical team, were included.

Results

Among the 26 patients (22 females, four males) included, 14 had secondary upper-limb lymphoedema after breast-cancer treatment and seven had secondary and five primary lower-limb lymphoedema. Median (interquartile range, IQR) ages at primary lower-limb lymphoedema and secondary lymphoedema onset were 18.5 (13–30) and 47.4 (35–58) years, respectively. Median body mass index (BMI) was 25.9 (22.9–29.3) kg m−2. For all patients, median pre-surgery lymphoedema duration was 37 (24–90) months. Thirty-four ALNs were transplanted into the 26  patients, combined with liposuction in four lower-limb-lymphoedema patients. Ten (38%) patients developed 15 complications: six, chronic lymphoedema (four upper limb, two lower limb), defined as ≥2-cm difference versus the contralateral side, in the limb on the donor lymph-node-site territory, persisting for a median of 40 months post-ALNT; four, post-surgical lymphocoeles; one testicular hydrocoele requiring  surgery; and four with persistent donor-site pain. Median (IQR)pre- and post-surgical lymphoedema volumes, calculated using the formula for a truncated cone, were, respectively, 1023 (633–1375) ml (median: 3 (1–6) months) and 1058 (666–1506) ml (median: 40 (14–72) months; P = 0.73).

Conclusion

ALNT may engender severe, chronic complications, particularly persistent iatrogenic lymphoedema. Further investigations are required to evaluate and clearly determine its indications.

Keywords
* Complication; 
* Lymphoedema; 
* Autologous lymph-node transplantation; 
* Surgery

*Link not available yet

Trends in Risk Reduction Practices for the Prevention of Lymphedema in the First 12 Months after Breast Cancer Surgery.

Dec 2012

McLaughlin SA, Bagaria S, Gibson T, Arnold M, Diehl N, Crook J, Parker A, Nguyen J.

Source

Department of General Surgery, Mayo Clinic, Jacksonville, FL. Electronic address: McLaughlin.Sarah@mayo.edu.

Abstract

BACKGROUND:

 Lymphedema is a feared complication of breast cancer surgery. We evaluated the trends in lymphedemadevelopment, patient worry, and risk reduction behaviors.

STUDY DESIGN:

 We prospectively enrolled 120 women undergoing sentinel node biopsy (SLNB) or axillary node dissection (ALND) for breast cancer and assessed lymphedema by upper extremity volume preoperatively and at 6 and 12 months postoperatively. We defined lymphedema as a >10% volume change from baseline relative to the contralateral upper extremity. Patients completed a validated instrument evaluating lymphedema worry and risk reducing behaviors. Associations were determined by Fisher's exact and signed rank tests.

RESULTS:

 At 6 months, lymphedema was similar between ALND and SLNB patients (p = 0.22), but was higher in ALND women at 12 months (19% vs 3%, p = 0.005). A clear relationship exists between relative change in upper extremity volume at 6 and 12 months (Kendall tau coefficient 0.504. Among the women with 0 to 9% volume change at 6 months, 22% had progressive swelling, and 18% resolved their volume changes at 12 months. Overall, 75% of ALND and 50% of SLNB patients had persistent worry about lymphedema at follow-up, and no difference existed in the number of risk reducing behaviors practiced among the 2 groups.

CONCLUSIONS:

 Upper extremity volumes fluctuate, and there is a period of latency before development of lymphedema. Despite the low risk of lymphedema after SLNB, most women worry about lymphedema and practice risk reducing behaviors. Additional study into early upper extremity volume changes is warranted to allay the fears of most women and better predict which women will progress to lymphedema.

Elsevier

Increased Interstitial Protein Because of Impaired Lymph Drainage Does Not Induce Fibrosis and Inflammation in Lymphedema.

Jan 2103

Markhus CE, Karlsen TV, Wagner M, Svendsen OS, Tenstad O, Alitalo K, Wiig H.

Source

Department of Biomedicine, University of Bergen, Norway.

Abstract

OBJECTIVE:

The pathophysiology of lymphedema is incompletely understood. We asked how transcapillary fluid balance parameters and lymph flow are affected in a transgenic mouse model of primary lymphedema, which due to an inhibition of VEGFR-3-Ig signaling lacks dermal lymphatics, and whether protein accumulation in the interstitium occurring inlymphedema results in inflammation.

METHODS AND RESULTS:

As estimated using a new optical-imaging technique, we found that this signaling defect resulted in lymph drainage in hind limb skin of K14-VEGFR-3-Ig mice that was 34% of the corresponding value in wild-type. The interstitial fluid pressure and tissue fluid volumes were significantly increased in the areas of visible swelling only, whereas the colloid osmotic pressure in plasma, and thus the colloid osmotic pressure gradient, was reduced compared to wild-type mice. An acute volume load resulted in an exaggerated interstitial fluid pressure response in transgenic mice. There was no accumulation of collagen or lipid in skin, suggesting that chronic edema presented in the K14-VEGFR-3-Ig mouse was not sufficient to induce changes in tissue composition. Proinflammatory cytokines (interleukin-2, interleukin-6, interleukin-12) in subcutaneous interstitial fluid and macrophage infiltration in skin of the paw were lower, whereas the monocyte/macrophage cell fraction in blood and spleen was higher in transgenic compared with wild-type mice.

CONCLUSIONS:

Our data suggest that a high interstitial protein concentration and longstanding edema is not sufficient to induce fibrosis and inflammation characteristic for the human condition and may have implications for our understanding of the pathophysiology of this condition.

A M A

Two cases of cutaneous angiosarcoma developed after breast cancer surgery.

2012

Iga N, Endo Y, Fujisawa A, Matsumura Y, Kabashima K, Tanioka M, Miyachi Y.

Source

Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Abstract

Several randomized trials have shown that breast-conserving therapy (BCT) is as effective as mastectomy and should be a standard treatment for early-stage breast cancer. Recently, there has been an increase in reports of angiosarcoma (AS) after BCT. Herein, we report a case of AS which developed after BCT and a case of Stewart-Treves syndrome with a focus on lymphedema. Chronic lymphedema is the primary risk factor for AS, which was first described in 1948 by Stewart and Treves [Cancer 1948 pages 1:64-81]. Radiation therapy secondarily tends to induce the development of AS, since radiation therapy induces fibrosis and proliferation of lymphatic vessels via cytokines such as vascular endothelial growth factor, which is followed by subclinical chronic edema. It is suggested that axillary lymph node dissection predisposes patients to the development of AS, since it is closely associated with lymphedema. Breast surgeons and radiologists should be aware of skin changes in order to improve the early detection of AS during the follow-up of patients who have undergone BCT, and especially those treated with axillary lymph node dissection.

PubMed