Basics
Description
- 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 system
- Present at birth
- Lower to upper extremity ratio: 3:1
- 2/3 of cases are bilateral.
- May improve with age
- Lymphedema praecox (65 " “80% of primary lymphedema)
- Usually becomes evident at puberty but may appear between infancy and age 35 years
- 70% 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 obstruction
- Burns
- Insect bites
- Infection
- Scar tissue from radiation
- Neoplasm
- Trauma
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 disease
- Also known as hereditary lymphedema type IA
- A rare, autosomal dominant condition that affects lymphatic function
- Associated with mutations in the FLT4 gene that encodes vascular endothelial growth factor receptor 3
- Meige disease
- Hereditary lymphedema type II " ”familial lymphedema praecox
- Fabry disease
- A serious, X-linked inborn error of glycosphingolipid catabolism associated with progressive renal failure, cardiovascular disease, neuropathy, and angiokeratosis
- 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.
- 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
- Infection
- Cellulitis
- Lymphangitis
- Herpes simplex virus type 2
- 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)
- Miscellaneous
- Heart failure
- Glomerulonephrosis
- Cirrhosis
- Hypoproteinemia
- Reflex 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 drainage
- Both 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.