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Lymphedema, Pediatric

Basics

Description

- Secondary lymphedema is from an acquired abnormality of lymphatic flow, an injury to the lymphatic system. - Common causes in children include the following: - Postsurgical obstruction - Burns - Insect bites - Infection - Scar tissue from radiation - Neoplasm - Trauma

- Lymphedema-distichiasis - An autosomal dominant condition that presents with lymphedema and double rows of eyelashes - The condition is associated with mutations in the FOXC2 gene.

- Tumors - Pelvic mass - Multiple enchondromatosis

- Metabolic - Cushing disease - Hyperthyroidism - Lipedema

- Anatomic - Venous stasis - Deep vein thrombosis - Hemihypertrophy - Arteriovenous fistula or malformation - Popliteal arterial aneurysm - Popliteal cyst (Baker cyst)

  • Lymphedema is a chronic progressive swelling in subcutaneous tissues, typically in an extremity or the genitals, due to protein-rich accumulation of interstitial fluid from disruption of the lymphatic system. It can be of primary or secondary origin.
  • Primary lymphedema has 3 forms, all of which stem from a developmental abnormality of lymphatic flow. Not all primary lymphedemas are clinically evident at birth.Congenital lymphedema, due to anomalous development of lymph systemPresent at birthLower to upper extremity ratio: 3:12/3 of cases are bilateral.May improve with ageLymphedema praecox (65 " “80% of primary lymphedema)Usually becomes evident at puberty but may appear between infancy and age 35 years70% unilateral lower extremity (L > R)Lymphedema tarda: presents at age 35 years or older
  • Secondary lymphedema is from an acquired abnormality of lymphatic flow, an injury to the lymphatic system.Common causes in children include the following:Postsurgical obstructionBurnsInsect bitesInfectionScar tissue from radiationNeoplasmTrauma

Epidemiology

  • Most lymphedemas in childhood are primary (or idiopathic) lymphedema (96%).
  • Congenital lymphedema comprises 10 " “25% of primary lymphedema cases; lymphedema praecox, 65 " “80%; and lymphedema tarda, 10%.
  • Affected males " ”most likely congenital and bilateral; affected females " ”most likely unilateral lymphedema praecox
  • Secondary lymphedema is more common in adults and rare in children. In the United States, it is commonly from breast cancer; worldwide, due to filariasis.
  • Affects 1.15 of 100,000 in children <20 years

Risk Factors

Genetics

  • Milroy diseaseAlso known as hereditary lymphedema type IAA rare, autosomal dominant condition that affects lymphatic functionAssociated with mutations in the FLT4 gene that encodes vascular endothelial growth factor receptor 3
  • Meige diseaseHereditary lymphedema type II " ”familial lymphedema praecox
  • Fabry diseaseA serious, X-linked inborn error of glycosphingolipid catabolism associated with progressive renal failure, cardiovascular disease, neuropathy, and angiokeratosis
  • Lymphedema-distichiasisAn autosomal dominant condition that presents with lymphedema and double rows of eyelashesThe condition is associated with mutations in the FOXC2 gene.
  • Other genetic conditions prone to lymphedema: Down, Turner, Noonan, yellow nail, Klippel-Trenaunay-Weber, and pes cavus

Pathophysiology

  • Abnormal accumulation of interstitial fluid due to the lymphatic load overwhelming the transport capacity of lymph vessels
  • Lymph flow occurs under a low pressure system; unlike generalized edema, capillary filtration remains normal in patients with lymphedema.
  • Initially, edema is pitting, whereas chronic edema is generally nonpitting as a result of fibrosis.

Diagnosis

History

  • Unilateral, heavy, often aching lower extremity edema in healthy pubertal female strongly suggests lymphedema praecox.
  • Heavy, aching pitting edema distal to site of extremity surgery or trauma suggests secondary lymphedema.
  • Sites of previous cellulitis, infection, or insect bites can be associated with secondary lymphedema.

Physical Exam

  • Heavy, aching pitting edema in unilateral limb is suggestive of lymphedema.
  • Lymphedema responds to elevation.
  • Risk factors include obesity and inflammatory arthritis.
  • Primary lymphedema sites: extremities, usually legs, rare in upper limbs; the foot is always involved in lower extremity lymphedema.
  • Chronic inflammation leads to fibrosis and nonpitting or "woody " ¯ edema with induration.
  • Hair loss and hyperkeratosis of the affected limb develop over time.
  • Intense sharp pain in affected limb is uncommon and suggests secondary lymphedema due to thrombophlebitis, cellulitis, or reflex sympathetic dystrophy.
  • Global edema suggests other disease states.
  • Red streaking of extremity, fever, chills, or nodal enlargement suggests development of cellulitis or lymphangitis.
  • History and physical exam are primary source for diagnosis.

Diagnostic Tests & Interpretation

Lab

Not usually necessary but may be useful to rule out other causes of edema ‚

  • Urinalysis for proteinuria as seen with glomerulonephrosis
  • Serum total protein and albumin to rule out hypoproteinemia
  • Liver function tests to assess functional status
  • Pregnancy test

Imaging

Usually unnecessary to make diagnosis but may help to plan or evaluate therapy ‚

  • Lymphangiography is no longer used because related dyes caused inflammation and worsening of lymphatic obstruction.
  • Radionuclide lymphoscintigraphy, when indicated, is the preferred method of imaging to define anatomy and to evaluate lymph flow and obstruction.
  • CT and MRI may be valuable if a malignancy is suspected or to differentiate subcutaneous from adipose swelling.
  • Doppler ultrasound may be helpful if deep vein thrombosis is suspected.

Differential Diagnosis

  • InfectionCellulitisLymphangitisHerpes simplex virus type 2
  • TumorsPelvic massMultiple enchondromatosis
  • MetabolicCushing diseaseHyperthyroidismLipedema
  • AnatomicVenous stasisDeep vein thrombosisHemihypertrophyArteriovenous fistula or malformationPopliteal arterial aneurysmPopliteal cyst (Baker cyst)
  • MiscellaneousHeart failureGlomerulonephrosisCirrhosisHypoproteinemiaReflex sympathetic dystrophy

Treatment

General Measures

  • Therapy should be instituted as soon as possible and before fibrosis develops.
  • Goals of therapy are to minimize or decrease edema and to prevent infection, fibrosis, and skin changes.
  • Compression garments (e.g., Jobst stockings or elastic wraps) is recommended long term but compliance can be a challenge.
  • Extremity elevation, especially at night
  • Exercise, stay active for a lifetime; muscle contraction assists lymph flow and does not exacerbate swelling.
  • Weight control
  • Diligent skin care and appropriately fitting shoes to avoid infection
  • Manual massage decompression can be helpful for digital edema and for infants who may not tolerate compression garments.
  • Automated intermittent pneumatic compression machines shown to facilitate home regimen compliance
  • Psychological effects of cosmesis are prominent and should not be overlooked.
  • Patient education and support groups can be found through the National Lymphedema Network.

Diet

In children with chylous reflux syndromes, a diet low in long-chain triglycerides may be of benefit. ‚

Special Therapy

  • Complex decongestive physiotherapy (CDP) is part of a specialized treatment with an initial reductive phase 1 and a maintenance phase 2 provided by a licensed physical therapist or occupational therapist certified in the treatment of lymphedema.
  • Treatment is time sensitive and should be instituted as soon as possible to prevent fibrosis developing.
  • Phase 1 consists of manual lymph-drainage therapy, compression therapy specialized bandaging, fitting for appropriate tailored compression garment, and detailed skin and nail care.
  • Phase 2 consists of self-management for drainage techniques, skin care, use and care of compression garments, and exercise advice

Medication

  • Diuretics: not generally used in children and adolescents; efficacy for adults is debated
  • Prophylactic antibiotic use is indicated for patients with recurrent cellulitis or lymphangitis.

Surgery/Other Procedures

  • Microsurgical treatment has been proven to show excellent outcomes in carefully selected patient populations via lymphatic-venous anastomoses or lymphatic-venous-lymphatic anastomoses.
  • Traditional surgery has 1 of 2 goals: removal of excess edematous tissue or attempts to restore lymph drainageBoth may decrease the rate of infections but have poor cosmetic results.Recommended only for those with uncontrolled swelling with significant disability

Ongoing Care

Prognosis

  • Edema persists throughout life.
  • Lymphedema can be staged and monitored via circumferential measurements. Guidelines have been established by the American Physical Therapy Association.
  • Natural history: plateau in severity of edema after an initial few years of progression in 50%, slow constant progression in 50%

Complications

  • Cellulitis and lymphangitis are the most common complications and are treated with antibiotics; published series showed 24% of cases developed infection and half of these required hospitalization.
  • Poor long-term compliance with compression garments due to uncomfortable nature of therapy
  • Lymphangiosarcoma (rare)
  • Psychological problems
  • Physical limitations
  • Chronic inflammation and edema ultimately lead to fibrosis and induration of the involved area.

Additional Reading

  • Gary ‚ DE. Lymphedema diagnosis and management. J Am Acad Nurse Pract. 2007;19(2):72 " “78. ‚ [View Abstract]
  • Kerchner ‚ K, Fleischer ‚ A, Yosipovitch ‚ G. Lower extremity lymphedema update: pathophysiology, diagnosis, and treatment guidelines. J Am Acad Dermatol. 2008;59(2):324 " “331. ‚ [View Abstract]
  • Mayrovitz ‚ HN. The standard of care for lymphedema: current concepts and physiological considerations. Lymph Res Biol. 2009;7(2):101 " “108. ‚ [View Abstract]
  • Rockson ‚ SG. Current concepts and future directions in the diagnosis and management of lymphatic vascular disease. Vasc Med. 2010;15(3):223 " “231. ‚ [View Abstract]
  • Schook ‚ CC, Mulliken ‚ JB, Fishman ‚ SJ, et al. Differential diagnosis of lower extremity enlargement in pediatric patients referred with a diagnosis of lymphedema. Plast Reconstr Surg. 2011;127(4):1571 " “1581. ‚ [View Abstract]
  • Zuther ‚ JE. Lymphedema Management: The Comprehensive Guide for Practitioners. 2nd ed. New York, NY: Thieme; 2009.

Codes

ICD09

  • 457.1 Other lymphedema
  • 757.0 Hereditary edema of legs
  • 997.99 Complications affecting other specified body systems, not elsewhere classified

ICD10

  • I89.0 Lymphedema, not elsewhere classified
  • Q82.0 Hereditary lymphedema
  • I97.89 Oth postproc comp and disorders of the circ sys, NEC

SNOMED

  • 234097001 Lymphedema (disorder)
  • 254199006 Hereditary lymphedema (disorder)
  • 440121002 postsurgical lymphedema (disorder)

FAQ

  • Q: Is the swelling going to go away?
  • A: No, this is a chronic condition requiring long-term management.
  • Q: Could this have been prevented?
  • A: No, primary lymphedema is typically due to abnormal embryologic development.
  • Q: If the lymph channels have been abnormal since birth, why does the swelling present during adolescence?
  • A: No one really knows; hormones may play a role in lymphedema.