Lymphedema / venous Inssuficiency Flashcards
A 19-year-old female with has a history of gradually increasing size of her feet, swelling and loss of definition of the calf of the right leg. She started noticing these changes 2 years ago. She has not traveled outside the United States and has not had surgery. Physical examination shows relative effacement of the knee-calf and calf-ankle junctions and positive Stemmer sign. Which of the following statement is true regarding her most likely diagnosis?
A) Meige’s disease is a hereditary form of this type of lymphedema
B) Milroy’s disease is a hereditary form of this type of lymphedema
C) Males are more commonly affected than females
D) Wuchereria bancrofti has been implicated in the pathogenesis
E) It is caused by a mutation in the VEGFR-3 gene
Correct answer is option A.
Lymphedema is classified as primary or secondary. Primary lymphedema results from developmental abnormalities of the lymphatic system and it is considered congenital when the disease develops before one year of age.
This patient likely has Lymphedema Preacox, which is the most common type of lymphedema. It presents in 60% to 80% of cases, affects females more frequently than males (4:1 ratio), and can be bilateral but typically involves only one extremity in 70% of cases.
Meige’s disease is a hereditary form of lymphedema praecox that manifests at puberty.
Milroy’s disease is a hereditary form of lymphedema congenita and it is caused by a mutation in the VEGFR-3 gene.
Lymphedema tarda only comprises 10% of cases, and it presents after the age of 35.
Secondary lymphedema results from obstruction or injury of the normal lymphatic system from a defined disease process. Filariasis due to Wuchereria bancrofti is the most common cause worldwide.
A 22-month-old female infant presents with a large mixed micro- and macrocystic lymphatic malformation of the right lower extremity. A photograph is shown. Medical history includes two rounds of sclerotherapy for the macrocystic component at 6 and 12 months of age and repeated infections, requiring a long hospital stay for intravenous antibiotic therapy 4 months ago. Which of the following is the most appropriate therapy for this patient?
A) Amputation
B) Embolization
C) Power-assisted liposuction
D) Repeated sclerotherapy
E) Surgical debulking
The correct response is Option E.
This 22-month-old female has undergone treatment of the macro cystic component of the lymphatic malformation and continues to present with complication secondary to the disease. In addition to difficulty of mobilization, fitting of regular clothes, nutrition problems due to repeated infections, there is also significant life threatening risk of severe infection. Even though compression garment and repeated sclerotherapy are potential options, there will be no control of the disease. The best next step is surgical debulking. Embolization is not appropriate for a lymphatic malformation, and amputation is not indicated at this time. Power-assisted liposuction would be indicated for lymphedema, not for a lymphatic malformation.
A 45-year-old woman is referred to the lymphedema center for evaluation of bilateral lymphedema of the lower extremities. The edema has been present for at least 5 years. She is morbidly obese with a BMI of 58 kg/m2, has well-controlled diabetes, and no history of operations or trauma to the lower extremities. She has seen a lymphedema specialist for ongoing conservative management and continues to wrap and elevate her legs with reasonable compliance. Despite this, she feels that the increase in size, heaviness, and fatiguability of her legs inhibits her activity level. The patient has enlarged legs and a positive Stemmer sign. Bilateral lower extremity lymphoscintigraphy demonstrates delayed radiotracer transit to the groins with dermal backflow. Which of the following is the most appropriate initial surgical option for this patient?
A) Bariatric surgery
B) Combined lymph node transfer and lymphovenous bypasses
C) Liposuction
D) Lymphovenous bypasses
E) Vascularized lymph node transfer
The correct response is Option A.
In the evolving area of surgical management of lymphedema, one difficult set of patients is the morbidly obese. In these patients, there is often a component of lymphedema in the bilateral lower extremities, abdominal pannus, or development of focal areas of massive localized lymphedema in the thighs or genitals. A positive Stemmer sign indicates an inability to pinch the base of the dorsum of the second toe. On the basis of her physical examination and lymphoscintigraphy results, this patient has lymphedema of her bilateral lower extremities. Development of lymphedema in the super morbidly obese can occur above a BMI of 50 kg/m2, and is likely above a BMI of 60 kg/m2. It has been found that the lymphedema may be reversible in up to 50% of these patients with weight loss to a point below a BMI of 50 kg/m2. If the patient has not been able to lose weight through nonsurgical interventions, the most appropriate next step is referral to a bariatric center for possible weight loss surgery. While the other options are all considerations for patients with lymphedema at various stages, the most appropriate initial treatment for this patient is weight loss surgery.
Which of the following is the most common infectious cause of secondary lymphedema worldwide?
(A) Actinomyces israelii
(B) Candida albicans
(C) Coccidioides immitis
(D) Mycobacterium tuberculosis
(E) Wuchereria bancrofti
The correct response is Option E.
In the United States, secondary lymphedema is most likely to occur as a complication of surgery, radiation therapy, or malignant tumors. Infectious causes are more common worldwide; the most common is infection with Wuchereria bancrofti organisms, which directly invade the lymph nodes. Filariasis has been shown to be the most common noninfectious cause of secondary lymphedema worldwide.
Actinomyces israelii typically produces infection in immunocompromised patients. Although this organism is normally found within the oral cavity, it can cause infection throughout the body.
Candida albicans is a normal inhabitant of the gastrointestinal tract and the female genitourinary tract that also causes infection in patients with compromised immune systems. Overgrowth of Candida organisms can also be a complication of antimicrobial therapy.
Coccidioides immitis is a fungus that inhabits hot, dry, and dusty climates, including portions of the western and southwestern United States. Pulmonary symptoms are associated.
Mycobacterium tuberculosis infection occurred in epidemic proportions several centuries ago, resulting in severe pulmonary manifestations, but has since been controlled through mass screening procedures, including skin testing and chest radiographs. This organism does not typically result in secondary lymphedema.
A 65-year-old woman comes to the office with swelling of her left upper extremity 18 months after undergoing radiation therapy to her left axilla for breast cancer. Which of the following is the most appropriate test to confirm the diagnosis of lymphedema?
A) CT scan
B) Lymphoscintigraphy
C) MRI
D) Skin biopsy
E) Ultrasonography
The correct response is Option B.
The most appropriate test to confirm the diagnosis of lymphedema is lymphoscintigraphy. Radiation to the axilla causes fibrosis of the axillary lymph nodes, which impairs the proximal drainage of lymph fluid from the extremity, resulting in lymphedema. Lymphoscintigraphy is the gold-standard test to diagnose lymphedema. A radiolabeled protein injected into the hands is taken up by the lymphatic vasculature. Images are obtained as the protein travels proximally to the axillary lymph nodes. Delayed transit of the tracer and/or dermal backflow of tracer into the superficial lymphatics confirms lymphatic dysfunction and lymphedema. The test is 96% sensitive and 100% specific for lymphedema. Ultrasonography, CT scan, and MRI may show subcutaneous fluid, but are not sensitive or specific for lymphedema. Lymphedema cannot be diagnosed using a biopsy; histopathology of lymphedematous tissue only may show non-specific inflammation.
A 43-year-old woman is evaluated because of lymphedema of the lower extremities. She demonstrates pitting edema, which does not improve with limb elevation. Her skin feels otherwise normal, with no evidence of fibrotic change. Which of the following International Society of Lymphology stages best describes this patient’s lymphedema?
A) 0
B) 1
C) 2
D) 3
The correct response is Option C.
Lymphedema results from congenital or acquired dysfunction of the lymphatic system. It results from changes to the lymphatic vessels, including ectasia and valve dysfunction. This results in reflux of lymphatic fluid into the interstitial space. Lymphatic fluid accumulation leads to chronic inflammation, extracellular matrix remodeling and fibrosis, adipose tissue differentiation, progressive fibrosis/sclerosis, and eventual obliteration of the lymphatic vessel lumen. Over time, accumulation of interstitial lymphatic fluid causes subcutaneous fibroadipose production.
Lymphedema is a chronic condition that slowly worsens over time. It progresses through four stages. Stage 0 indicates a clinically normal extremity but with abnormal lymph transport (identified via lymphoscintigraphy). Stage 1 demonstrates a relative accumulation of fluid high in protein content, which improves with limb elevation. Pitting may occur. Stage 2 represents pitting edema that does not resolve with elevation, but no evidence of fibrotic skin changes. Late in Stage 2, the limb may not pit as excess fat and fibrosis begins. Stage 3 describes fibroadipose deposition and fibrotic skin changes.
The presence of dermal backflow on contrast-enhanced imaging of the lymphatic system is diagnostic for lymphedema, and the severity and distribution of this backflow correlate closely with the pathologic condition of the lymphatic vessels. Indocyanine green fluorescent lymphography enables detailed dynamic functional evaluation of the superficial lymphatic system and can also be used for intraoperative lymph node mapping for vascularized lymph node transplantation.
A 14-year-old boy is brought to the emergency department by his parents one hour after he had sudden onset of swelling, tenderness, and tension of a lymphatic malformation on the right leg. The boy €™s parents say that the lesion has been present since 3 years of age and has been enlarging since that time. Which of the following is the most appropriate initial management?
(A) Administration of an antibiotic
(B) Compression of the entire leg
(C) Lymphovenous shunting
(D) Pulsed-dye laser therapy
(E) Surgical decompression
The correct response is Option A.
In a patient with a large lymphatic malformation who presents with sudden expansion of a lesion along with tenderness and tenseness, the most likely diagnosis is infection. Although prophylactic antibiotics are generally not indicated for patients with lymphatic malformations, it is wise to prescribe a broad-spectrum antibiotic with instructions to administer it and see a physician at the first signs of infection.
Although elevation of the extremity may be reasonable, there is no role for compression if infection is ongoing. Laser therapy may be used to treat lymphatic vesicles on a mucosal surface but will not treat the deeper malformations. In the case of acute infection, there is no role for surgical decompression, and lymphatic malformations do not respond to shunting of the lymphatic fluid.
An otherwise healthy 25-year-old woman has a diffuse, microcystic, lymphatic malformation in her pelvis and perineum. It involves the skin and subcutaneous tissues of the region, along with diffuse involvement of the pelvic muscles. Which of the following would be the most effective treatment for her condition?
A) Intralesional steroid injection
B) Propranolol therapy
C) Sclerotherapy
D) Sirolimus therapy
E) Surgical excision
The correct response is Option D.
The most effective and reasonable treatment option would be systemic sirolimus therapy. Recent studies have shown that sirolimus is extremely effective in treating and clinically reducing the size of venous (90%) and lymphatic malformations (LM) (95%). It is especially useful in treating vascular tumors associated with Kasabach-Merritt phenomenon (96%, along with 93% normalization of coagulopathy).
Propranolol therapy and intralesional steroid injection are treatments for hemangiomas, not malformations. Sclerotherapy would be useful in macrocystic LM but not microcystic LM. Surgical excision would be too destructive an option in this case given the location, diffuse nature of the disease, and the structures involved.
A 70-year-old male with a past medical history of diabetes, obesity and smoking presents to your clinic with an ulcer located in the lower extremity that has been present for 4 weeks. Which of the following characteristics on you physical examination would suggest that this ulcer is secondary to chronic venous insufficiency?
A) Insensate ulceration in the plantar aspect of the foot.
B) Ulceration located over bony prominences, round with sharply demarcated borders, necrosis at the base and absent pedal pulses.
C) Painful ulceration located over the lateral malleolus with irregular borders, granulation tissue and fibrin present at the base and lower extremity edema.
D) Ulceration located at the heel with a necrotic base with normal pedal pulses.
E) Deep non-healing ulceration associated with protruding edges and scarring, bleeding, bone destruction and periosteal reaction.
The correct answer is option C.
Numerous lower extremity wounds look similar to a venous ulcer; therefore, it is imperative to know the differential diagnosis. Venous insufficiency ulcers are secondary to venous hypertension. They present as shallow, painful ulcers located in the gaiter region of the lower extremity. The distribution relative to the malleolus is medial in 70% of patients, lateral in 20%, and bilateral in 10%. The edge of the ulcer is irregular and smooth. Granulation tissue and fibrin are present at the base. Associated findings include edema, venous dermatitis, varicosities and lipodermatosclerosis. Ulcers secondary to arterial insufficiency are commonly described as deep, round or punched out with sharply demarcated borders and yellow base or necrosis often located over bony prominences with exposure of tendons. Associated findings include abnormal pedal pulses, cool limbs, femoral bruit and prolonged venous filling time. Ulcers secondary to diabetic neuropathy usually occur on the plantar aspect of the feet and are insensate. Pressure ulcers are associated with prolonged immobilization and prolonged pressure over bony prominences such as in the heel region. Lastly, chronic ulcers can undergo malignant transformation. Chronic ulcers may require biopsy at regular intervals as malignant change in these ulcers is directly related to their duration. Bleeding, bone destruction, soft tissue mass and periosteal reaction suggest malignancy, and a tissue biopsy must be performed.
A 6-year-old girl has had swelling of the right cheek for the past five years. Her mother says that the area of swelling has grown commensurately with the child and enlarges when the child has a sore throat. Physical examination shows a 4-cm mass that is soft and doughy on palpation. Which of the following is the most likely diagnosis?
(A) Arteriovenous malformation
(B) Branchial cleft cyst
(C) Capillary malformation
(D) Lymphatic malformation
(E) Venous malformation
The correct response is Option D.
The most likely diagnosis is lymphatic malformation, a localized malformation in the development of the lymphatic system. Approximately 50% of lymphangiomas are diagnosed at birth, and 90% are diagnosed before age 2 years. Lymphangiomas are soft and doughy to palpation and typically occur in the head and neck. They may vary in size from a few millimeters to larger than 30 cm. Although the overlying skin is usually normal, it may be thin, atrophic, or have bluish discoloration.
Patient symptoms correlate with the size, location, and extent of the lymphangioma. Respiratory compromise is the most common significant complication associated with lymphangiomas affecting the head and neck. Viral infections can cause enlargement of the lesion, as in this patient.
Arteriovenous malformations are high-pressure, high-flow lesions that grow in rapid spurts. These lesions are often pulsatile and warmer than the surrounding skin. A port-wine-stainBlike appearance of the skin is commonly associated. Branchial cleft cysts present as smooth, nontender masses overlying the anterior border of the sternocleidomastoid. They can fluctuate in size. Capillary malformations, or port-wine stains, are red macular lesions that are present at birth and do not regress. They can be localized or extensive. In patients with capillary malformations of the face, further darkening of skin and hyperplastic skin changes occur over time.
Hemangiomas are vascular anomalies that appear shortly after birth, proliferate rapidly during infancy, and then spontaneously regress during childhood. They do not occur in adults.
A 71-year-old woman presents to your office with a 6 week history of an enlarging superficial ulcer with irregular borders located just proximal to the medial malleolus. There is induration and brown pigmentation affecting the skin surrounding the ulcer. She has a remote history of an ankle fracture on the affected leg. The initial diagnostic procedure of choice is:
A) MRI
B) Plain films
C) Transcutaneous oxygen measurement
D) Duplex ultrasound of the saphenous vein with proximal compression
E) Tissue biopsy
The correct answer is option D.
This physical exam describes classic findings for venous leg ulcer with a location in the gaiter area, hemosiderin deposits and lipodermatosclerosis. The patient has an advanced age and a history of previous leg trauma and both of these are associated with the development of venous leg ulcers. The venous drainage of the medial lower leg is through the saphenous vein and compression will cause pooling of the blood to visualize venous reflux. Duplex ultrasound is inexpensive, non-invasive and readily available in most institutions and is the procedure of choice to diagnose valvular incompetence that causes venous stasis and leg ulcerations
A 46-year-old woman comes to the office for initial evaluation and management of the right upper extremity because of swelling and discomfort. Medical history includes right modified radical mastectomy for T3 N2 breast cancer 2 years ago. The patient reports that the swelling started 9 months after her procedure, and that she has had two episodes of cellulitis of the right upper extremity that required treatment with oral antibiotics. Physical examination shows marked non-pitting edema of the right upper extremity and a well-healed surgical incision along the right chest wall. There is currently no evidence of recurrent breast cancer. BMI is 27 kg/m2. Which of the following is the most appropriate initial management for this patient?
A) Complete decongestive therapy
B) Magnetic resonance lymphangiography
C) Pentoxifylline therapy
D) Vascularized lymph node transfer
E) Weight loss
The correct response is Option A.
This patient has post-mastectomy lymphedema. Incidence of lymphedema after axillary node dissection has been reported to be up to 14%. It very often presents after a period of latency after surgical intervention. The mainstay of initial treatment for this condition is complete decongestive therapy (CDT). CDT is a therapist-driven modality that incorporates a multimodality approach including manual lymphatic drainage, daily bandaging, exercise, and skin care. After a period of initial intensive therapy, patients are transitioned to self-directed care under the supervision of a therapist with compression garments and adjunctive modalities. The relative value and benefit of each of the components of CDT are the source of active investigation. Initial management of lymphedema with some form of compression and therapy is the currently accepted approach.
Significant advances have been made in understanding the pathophysiology of lymphedema. There is a complex interplay between the lymphatic, venous, and interstitial systems with venous insufficiency and obesity contributing to the incidence and severity of lymphedema. These conditions should be investigated and treated in conjunction with CDT. The patient in this question is not obese and weight loss would not be an initial appropriate step in management of her lymphedema.
Various pharmacotherapies have been investigated in the treatment of lymphedema. These include diuretics, coumarin, vitamin E, pentoxifylline, and nonsteroidal anti-inflammatory drugs (NSAIDs). None have been demonstrated to provide efficacy in the treatment of lymphedema.
In patients who have persistent infections or symptomatic lymphedema after conservative management, there may be a role for treatment with physiologic surgical therapies such as vascularized lymph node transfer or lymphaticovenular anastomosis. Imaging modalities such as magnetic resonance lymphangiography may provide high-resolution visualization of the lymphatic system and assist in procedure selection, but should not be employed as a portion of the initial treatment of a patient with lymphedema.
A 45-year-old woman treated with axillary dissection and mastectomy for Stage II breast cancer has onset of lymphedema of the right upper extremity. Conservative management with compression garments and lymphatic massage has not led to adequate resolution. Which of the following procedures is most appropriate to address the lymphedema in this patient?
A) Brachioplasty
B) Charles procedure
C) Homan procedure
D) Liposuction
E) Lymphatico-venous bypass
The correct response is Option D.
Liposuction has been reliably shown to improve lymphedema post-breast cancer therapy.
Lymphatico-venous bypass is a procedure that is gaining popularity, but the literature is still controversial with regard to its efficacy. The Homan and Charles procedures have become less popular due to drastically increased morbidity compared with liposuction.
Brachioplasty is a technique to address excess skin of the upper arm and will not improve lymphedema.
Resection approach, or debulking, involves surgical excision of subcutaneous tissue, which may or may not include excision of the overlying skin. Charles first described this resection method in 1912, and variations of this technique of radical excision of the subcutaneous tissue and primary or delayed skin grafting are still used today. Debulking procedures are not designed to directly address lymphatic vessel dysfunction but instead provide improved comfort by removing redundant skin and subcutaneous tissues.
Homan described and popularized subcutaneous excision beneath flaps. This may be performed in two stages on a single extremity. A medial resection may be performed first, as more tissue can be removed from the medial than from the lateral aspect of both the arm and the leg. If necessary, a lateral procedure may be performed 3 months after the initial operation. If bilateral disease is present, the operation may be performed on both involved limbs during the initial procedure, although in cases of massive edema, the prolonged operative time and excessive blood loss mitigate against this approach.
A 46-year-old man comes to the office because of a 10-year history of a painless mass in the mons (shown). He reports that it has enlarged gradually and prevents him from conducting daily activities. He has had episodes of cellulitis in the skin overlying the mass several times a year for the past 5 years. BMI is 51 kg/m2. Which of the following is the most appropriate management?
A ) Elevation and compression
B ) Incision and drainage
C ) Resection and negative pressure wound therapy
D ) Suction lipectomy and Charles procedure
E ) Weight reduction and physical therapy
The correct response is Option C.
Massive localized lymphedema (MLL) is an emerging complication of morbid obesity. Also known as lymphedema of obesity, MLL is usually a benign overgrowth of soft tissue.
MLL is a form of secondary lymphedema; it represents an acquired dysfunction of otherwise normal lymphatics. Secondary lymphedema has an identifiable cause €”in this case, obesity €”that destroys or renders inadequate the otherwise normal lymphatics. Worldwide, the most common cause is filariasis, the direct infestation of lymph nodes by the parasite Wuchereria bancrofti. Other causes include vein stripping, peripheral vascular surgery, oncologic surgery, radiation, infection, and tumor invasion or compression.
As shown in the photograph, the overlying skin is thickened and displays the typical peau d €™orange (orange skin) appearance of congested dermal lymphatics. The epidermis forms thick, scaly deposits of keratinized debris and may display a warty verrucosis. Cracks, pits, fissures, and open wounds may develop and accommodate debris and bacteria, which lead to lymphorrhea, the leakage of lymph onto the surface of the skin.
Surgical treatment is palliative, not curative, and it does not obviate the need for continued conservative therapy. Resection is indicated for restoration of mobility, prevention of recurrent infections, or if there is a question of malignancy. Rarely, chronic lymphedema may predispose to cutaneous angiosarcoma.
Incision and drainage is performed for wound infection. Weight reduction, physical therapy, elevation, and compression are all conservative management options in lymphedema and would not be appropriate in a patient who is bed-bound as a result of MLL and has recurrent cellulitic episodes. Suction lipectomy would not be effective for the patient described and does not address skin excess. The Charles procedure is a radical surgery performed for lower extremity lymphedema, where fascial excision of skin and soft tissue is performed and then skin from the resected specimen is used for immediate autografting.
A 16-year-old girl with no history of international travel is brought to the office because of gradually increasing size of the feet, swelling of the legs, and loss of definition of the calves. Her parents say they first noticed that the soft tissue of her ankles was compressed by her shoes 2 years ago. Family history includes foot, leg, and ankle swelling. Physical examination shows relative effacement of the knee-calf and calf-ankle junctions. Pitting edema is noted. Which of the following is the most likely diagnosis?
A) Filariasis
B) Lymphedema praecox
C) Lymphedema tarda
D) Milroy disease
E) Secondary lymphedema
The correct response is Option B.
Lymphedema praecox is the most likely form of hereditary lymphedema. It typically manifests at puberty and has a chronic course. The scenario describes a classic case of lymphedema praecox—bilaterality, occurring sometime around puberty.
Filariasis is the most common cause of lymphedema worldwide, but it is not endemic to nontropical countries. Wuchereria bancrofti, Brugia malayi, Brugia timori, Onchocerca volvulus, and Loa loa are parasites that cause filariasis.
Lymphedema tarda arises in middle age by definition. It is another form of primary lymphedema.
Milroy disease is not the appropriate response. This is a congenital form of lymphedema, usually present at birth or manifesting shortly after birth. It often has asymmetries to the symptoms. The scenario described would not be typical of Milroy disease.
Secondary lymphedema could theoretically occur in a 16-year-old girl, bilaterally and symmetrically with no additional symptoms or examination findings, but it is very unlikely. Malignancies that cause secondary lymphedema would also cause other findings, particularly if cancer had been present for 2 years or more. The child has no history of other trauma, insult, or infection at the groin. Also, the patient described has a family history of leg swelling, which is strongly suggestive of some form of primary lymphedema.