Introducing 

Prezi AI.

Your new presentation assistant.

Refine, enhance, and tailor your content, source relevant images, and edit visuals quicker than ever before.

Loading…
Transcript

Lymphedema

Primary

Classification by Age of Onset

1. Congenital lymphedema—presents at birth

2. Lymphedema praecox—ages 1 to 35

77%–94% of cases

3. Lymphedema tarda—after age 35

developmental abnormality precipitated by some insult (trauma, illness, physical immobility)

Clues: Facial, conjunctival, and genital lymphedema is typically seen in association with the limbs involved

Primary

Emberger syndrome (Primary Lymphedema with

Myelodysplasia)- AD, mutations in GATA2, a transcription factor

  • low CD4/CD8 ratio, immune dysfunction (widespread cutaneous warts), sensorineural deafness, and genital lymphedema + lymphedema of the lower limbs.
  • predisposition to AML

Milroy Syndrome - AD, mutation in VEGFR3 (FLT4 gene) disrupts lymphangiogenesis. Females>males

  • presents at birth, deep creases over the toes and small deformed ("ski jump") toenails, positive Kaposi–Stemmer sign

Lymphedema-Distichiasis - AD mutation, transcription factor FoxC2 causing primary valve failure.

  • Distichiasis, a double row of eyelashes, typically presents during puberty
  • May include cardiac defects, cleft palate, spinal extradural cysts, and other ophthalmologic complications.

Lymphedema: A Comprehensive Review

Warren, Anne G. BA*; Brorson, Håkan MD, PhD‡; Borud, Loren J. MD†; Slavin, Sumner A. MD†

*Harvard Medical School, Boston, MA; †Harvard Medical School, Division of Plastic Surgery, Beth Israel Deaconess Medical Center, Boston, MA; and the ‡Department of Plastic and Reconstructive Surgery, Lund University, Malmö University Hospital, Malmö, Sweden. November 28, 2006. Reprints: Sumner A. Slavin, MD, 1101 Beacon St, Brookline, MA 02446. E-mail: sslavin@bidmc.harvard.edu.

Burkhart CN, Adigun C, Burton CS. Chapter 174. Cutaneous Changes in Peripheral Venous and Lymphatic Insufficiency. In: Wolff K, ed. Fitzpatrick's Dermatology in General Medicine. 8th ed. New York: McGraw-Hill; 2012. http://www.accessmedicine.com/content.aspx?aID=56081150. Accessed November 3, 2013.

Diagnosis and Differential

  • Chronic venous stasis changes can mimic early lymphedema, but they are more often bilateral and symmetric

  • Lipedema can mimic lymphedema, however there is characteristic sparing of the feet beginning abrubtly at the medial malleoli (common in overweight women)

  • Exclude potential causes of lower extremity swelling: renal failure, hypoalbuminemia, CHF, protein-losing nephropathy, pulmonary HTN, obesity, pregnancy, and drug-induced edema

Primary

Overview

HYPOTRICHOSIS–LYMPHEDEMA–TELANGIECTASIA - rare mutation of transcription factor gene SOX18

  • Characteristic phenotype of lymphedema, alopecia, and telangiectasia
  • edema presents in puberty, hair is normal at birth but lost in infancy, telangiectasias of the palms and soles > scalp, legs, and genitalia

MEIGE SYNDROME

  • AD pattern, unknown genetic basis, F>M
  • presents during puberty, +/- facial puffiness with deep creases and wrinkling, usually unilateral lower extremity edema

Definition: Excess fluid in tissues and cells due to lymphatic malformation or malfunction, most common in lower extremities

  • Primary - most congenital defects in VEGFR3 or transcription factor FoxC2
  • Secondary - acquired, related to chronic venous insufficiency, recurrent soft tissue infections, post-surgical or radiation, infectious due to filiarisis

Clinical Presentation:

  • In all cases, it may begin as transient, pitting with pressure.
  • Over time it becomes fixed, leading to adipose tissue hypertrophy, fibrosis, and epidermal hyperplasia and verrucosis
  • fungal infection, viral warts, or erisypelas may be present
  • Kaposi–Stemmer sign: inability to pinch up skin on dorsum of foot between second and third toe

Secondary

Staging

Risk factors:

• Trauma, infection, obesity, chronic venous stasis

#1 cause worldwide: filariasis infection with nematode Wusheria banrofti (100 million people)

  • Second leading cause of permanent disability in the world

#1 cause in the U.S.: malignancy or its therapy

  • Breast cancer and therapy account for most cases of upper extremity lymphedema

Podoconiosis (nonfilarial elephantiasis) - bilateral edematous feet and legs 2/2 chronic inoculation of microparticles of silica in barefoot walkers

• International Society of Lymphology

  • 0 – latent or subclinical – swelling is not evident despite impaired lymph transport, months to years before overt edema occurs
  • 1 – early accumulation of fluid high in protein (contrast with venous edema) that subsides with limb elevation, pitting may occur
  • 2 – pitting +/- as fibrosis occurs – elevation alone rarely reduces swelling
  • 3 – lymphostatic elephantiasis, pitting is absent, atrophic changes, acanthosis, fat deposits, verrucous overgrowths often develop

Complications

References

  • Malignancy
  • lymphangiosarcoma, Kaposi’s sarcoma, lymphoma
  • Stewart-Treves syndrome- most commonly refers to lymphangiosarcoma associated with chronic lymphedema after breast cancer treatment

  • Cellulitis is a common, recurrent complication in any form of lymphedema
  • 2/2 increased microbial proliferation in the fluid
  • Treat aggressively; leads to worsening disease
  • consider long term antibiotic use

1. Babu S, Nutman TB. Immunopathogenesis of lymphatic filarial disease. Semin

Immunopathol. 2012 Nov;34(6):847-61. doi: 10.1007/s00281-012-0346-4. Epub 2012

Oct 3. Review. PubMed PMID: 23053393; PubMed Central PMCID: PMC3498535.

2. Burkhart CN, Adigun C, Burton CS. Chapter 174. Cutaneous Changes in Peripheral Venous and Lymphatic Insufficiency. In: Wolff K, ed. Fitzpatrick's Dermatology in General Medicine. 8th ed. New York: McGraw-Hill; 2012. http://www.accessmedicine.com/content.aspx?aID=56081150. Accessed November 3, 2013.

3. Coenenberg J, Altmeyer P, Brockmeyer NH, Potthoff A. ["Who knows

Podoconiosis?" A dermatologic travel report]. Hautarzt. 2013 Aug;64(8):606-10.

doi: 10.1007/s00105-013-2613-2. German. PubMed PMID: 23907173.

4. Gokhale S, Gokhale S. Four Generations of Rare Familial Lymphedema (Milroy

Disease). Med Princ Pract. 2013 Jun 4. [Epub ahead of print] PubMed PMID:

23751338.

5. Kaarthigeyan K, Ramprakash M, Kalpana G. Distichiasis-lymphedema syndrome with

optic disc pit. Indian J Ophthalmol. 2011 Jan-Feb;59(1):71-2. PubMed PMID:

21157084; PubMed Central PMCID: PMC3032255.

6. Mansour S, Connell F, Steward C, Ostergaard P, Brice G, Smithson S, Lunt P, Jeffery S, Dokal I, Vulliamy T, Gibson B, Hodgson S, Cottrell S, Kiely L, Tinworth L, Kalidas K, Mufti G, Cornish J, Keenan R, Mortimer P, Murday V; Lymphoedema Research Consortium. Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. Am J Med Genet A. 2010. Sep;152A(9):2287-96. doi: 10.1002/ajmg.a.33445. PubMed PMID: 20803646.

7. Warren AG, Brorson H, Borud LJ, Slavin SA. Lymphedema: a comprehensive review. Ann Plast Surg. 2007 Oct;59(4):464-72. Review. PubMed PMID: 17901744.

Treatment

Key component is compression

  • Compression Bandages
  • Decongestive lymphatic therapy or complex physical therapy
  • Massage/manual lymph drainage, compression bandage, exercise, hygiene
  • External sequential compression devices

Pharmacologic Therapy:

  • Benzopyrones increase proteolysis by macrophages
  • Coumarin may reduce capillary filtration and fibrotic tissue deposition

Surgical Therapy - once failed conservative therapy, likely due to adipose tissue hypertrophy

  • Debulk Resection, lymphatic microsurgery, suction-assisted lipectomy (liposuction)
  • Chronic patients with a predominance of fibrosis not typically appropriate surgical candidates

Learn more about creating dynamic, engaging presentations with Prezi