Lymphedema Presentation
Lymphedema presents as progressive swelling of one or more body parts that does not respond to elevation or diuretics, with a positive Stemmer sign (inability to pinch the skin at the base of the second toe or finger), and can range from mild to extensive swelling with potential disability. 1
Clinical Characteristics
Primary Features
- Swelling can be unilateral or bilateral and results from accumulation of interstitial fluid and fibroadipose tissue due to abnormalities or damage to the lymphatic system 1
- The swelling is chronic and progressive, worsening if left untreated, and represents a debilitating condition that significantly impacts quality of life 2, 3
- Positive Stemmer sign is a characteristic finding that helps differentiate lymphedema from other causes of edema 1
Temporal Patterns
- Lymphedema may occur immediately after treatment or develop years later, making long-term surveillance essential even in asymptomatic patients 1
- Primary lymphedema can present at birth or develop later in life, most commonly appearing at puberty 4, 3
Types and Etiology
Primary Lymphedema
- Results from congenital abnormalities of the lymphatic system, with most cases thought to have a genetic origin, though causative mutations are identified in only about one-third of affected individuals 5, 3
- Can present in isolation or as part of a syndrome 3
Secondary Lymphedema
- Develops from surgical lymph node dissection, radiation therapy, or recurrent infections 1
- In the United States, the population primarily affected includes patients undergoing cancer treatment, particularly women treated for breast cancer 2
- Risk is significantly higher with axillary lymph node dissection (up to 25-40%) compared to sentinel lymph node biopsy 5, 6
- Worldwide, filariasis is the most prevalent cause, particularly common in southeast Asia 4
Associated Complications
Infectious Complications
- Increased risk of cellulitis and lymphangitis, which are common complications requiring prompt antibiotic treatment 1
- Erysipelas is always of streptococcal origin and requires systemic antibiotics, with high risk of recurrence 7
Functional Impairment
- Large swelling associated with significant dermal sclerosis can lead to decreased joint mobility and functional impairment 7
- Lymphedema affects body image, self-esteem, and causes feelings of weakness, fear, and anxiety about disease progression 8
- Patients experience limitations in work, leisure activities, and psychological wellbeing 1
Long-term Complications
- Chronic lymphedema predisposes to lymphangiosarcoma, a rare but serious complication 4
- The condition causes important reduction in quality of life and requires lifelong management 7, 3
Anatomical Distribution
Common Sites
- Most commonly affects upper extremities in women with breast cancer, but may appear in one or more extremities and include the corresponding quadrant of the trunk 2, 8
- Can affect head and neck, breast, genitals, and lower extremities, depending on the surgery performed 8
Risk Factors to Identify
Modifiable Risk Factors
- Obesity (BMI >40) is strongly associated with lymphedema development and progression 5, 8
- Prior trauma to or infection of the affected limb increases risk 2
Treatment-Related Risk Factors
- Radiation therapy, especially to supraclavicular or axillary nodes, can cause or exacerbate lymphedema 6
- Extent of lymph node dissection directly correlates with risk 5, 6
Critical Diagnostic Pitfall
Failing to differentiate between lymphedema and lipedema leads to delayed diagnosis and inappropriate treatment 1. Lymphedema does not respond to diuretics, and using diuretics for lymphedema is ineffective and physiologically unsound 1.