LymphedemaV1, Istex, Corpus, bibRecord, 006507

Lymphedema of the Lower Extremity: Is It Genetic or Nongenetic?

Identifieur interne : 006507 ( Istex/Corpus ); précédent : 006506; suivant : 006508

Lymphedema of the Lower Extremity: Is It Genetic or Nongenetic?

Source :

Clinical Pediatrics [ 0009-9228 ] ; 2007-11.

RBID : ISTEX:D75D84254DB4F9D9CB79C037FF8159BB07CC72E5

Abstract

Lymphedema of the lower extremities is a diagnostic challenge. Exclusion of secondary causes of limb swelling and secondary lymphedema is the initial step. Primary lymphedema is classified into idiopathic and familial (hereditary) subgroups. Hereditary lymphedema can be nonsyndromic or associated with congenital anomalies or with abnormal physical findings. A 13-year-old girl presented with unilateral lower extremity lymphedema. Her medical and family history was unremarkable. The physical examination was negative for dysmorphic features and congenital anomalies. Lymphoscintigraphy showed no evidence of lymph flow in the left lower extremity, which persisted at the delayed 2-hour image. A comprehensive clinical and family history that includes a thorough physical examination are the mainstays of the medical assessment of lymphedema in children. Isotopic lymphoscintigraphy is generally considered the gold standard for confirmation of the diagnosis. This article discusses the differential diagnosis, reviews the literature, and suggests a simplified and an updated flowchart for the classification of unilateral limb lymphedema in children.

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DOI: 10.1177/0009922807303545

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<front><div type="abstract" xml:lang="en">Lymphedema of the lower extremities is a diagnostic challenge. Exclusion of secondary causes of limb swelling and secondary lymphedema is the initial step. Primary lymphedema is classified into idiopathic and familial (hereditary) subgroups. Hereditary lymphedema can be nonsyndromic or associated with congenital anomalies or with abnormal physical findings. A 13-year-old girl presented with unilateral lower extremity lymphedema. Her medical and family history was unremarkable. The physical examination was negative for dysmorphic features and congenital anomalies. Lymphoscintigraphy showed no evidence of lymph flow in the left lower extremity, which persisted at the delayed 2-hour image. A comprehensive clinical and family history that includes a thorough physical examination are the mainstays of the medical assessment of lymphedema in children. Isotopic lymphoscintigraphy is generally considered the gold standard for confirmation of the diagnosis. This article discusses the differential diagnosis, reviews the literature, and suggests a simplified and an updated flowchart for the classification of unilateral limb lymphedema in children.</div>
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<meta-value>835 Lymphedema of the Lower Extremity: Is It Genetic or Nongenetic? SAGE Publications, Inc.200710.1177/0009922807303545 MarwanShinawi MD Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, mshinawi@bcm.tmc.edu Lymphedema of the lower extremities is a diagnostic challenge. Exclusion of secondary causes of limb swelling and secondary lymphedema is the initial step. Primary lymphedema is classified into idiopathic and familial (hereditary) subgroups. Hereditary lymphedema can be nonsyndromic or associated with congenital anomalies or with abnormal physical findings. A 13-year-old girl presented with unilateral lower extremity lymphedema. Her medical and family history was unremarkable. The physical examination was negative for dysmorphic features and congenital anomalies. Lymphoscintigraphy showed no evidence of lymph flow in the left lower extremity, which persisted at the delayed 2-hour image. A comprehensive clinical and family history that includes a thorough physical examination are the mainstays of the medical assessment of lymphedema in children. Isotopic lymphoscintigraphy is generally considered the gold standard for confirmation of the diagnosis. This article discusses the differential diagnosis, reviews the literature, and suggests a simplified and an updated flowchart for the classification of unilateral limb lymphedema in children. lymphedema syndromic genetic lymphoscintigraphy lymphangiogenesis ymphedema is the abnormal accumulation of interstitial protein-rich fluid caused by a L congenital malformation (primary lym- phedema) or as a result of lymphatic obstruction or disruption (secondary lymphedema) of the lym- phatic vessels. Lymphedema causes an increase in the interstitial volume, which subsequently results in a swelling of a body part due to the insufficient lymphatic transport and drainage. It is most common in the lower limb (80% of cases) but can also occur in the arms, face, trunk, and external genitalia.1 Primary lymphedema can be classified into idiopathic and familial (hereditary) subgroups. Idiopathic lymphedema is more common and is sub- divided into 3 types, depending on age of onset: con- genital (onset before 1 year of age), praecox (onset at 1-35 years of age), and tarda (onset after 35 years of age). The etiology of these conditions is unknown, but a de novo genetic event of genes involved in lymphangiogenesis is a possibility. Hereditary lymphedema, in which the modes of inheritance or the genetic basis were elucidated, is relatively rare and usually present at birth. Different modes of inheritance have been described, includ- ing autosomal dominant, autosomal recessive, and X-linked. Milroy and Meige diseases follow an auto- somal dominant pattern and comprise the nonsyn- dromic forms of hereditary lymphedema syndromes. A number of hereditary lymphedema syndromes are also associated with congenital anomalies or with abnormal physical findings such as distichiasis (double eyelashes), discoloration of nails, ptosis, and cholestasis. If lymphatics are damaged or blocked by any pathologic process, the interstitial fluid builds up in the tissues causing a secondary lymphedema. The latter can be due to acquired local obstruction, phys- ical damage, or functional disturbances of the lym- phatic vessels. 836 Case Report A previously healthy 13-year-old girl presented with localized swelling of her left lower limb that had appeared 4 weeks earlier. The swelling developed gradually and was not associated with pain or limi- tation of movements. Her medical history was unre- markable, there was no history of trauma, fever, or other systemic symptoms, and she had not under- gone any surgical interventions in the lower extrem- ities. Her menarche occurred at 11.5 years of age and her periods were regular. The family history revealed healthy parents and 4 siblings and was neg- ative for lymphedema in the extended family. On physical examination, she was alert and in no acute distress. Her weight, height, and head cir- cumference were in the 50th percentile. There were no dysmorphic facial features. A nonerythe- matous, pitting, nontender edema of the left foot, ankle, and the lower two thirds of the leg was noted (Figure 1). No other signs of inflammation or trauma were found. Pulses were palpated equally in both lower extremities, and no lymph nodes or other masse proximal to the edema were observed. Free movements were evident in all joints. The Tanner sexual developmental stage was V. There were no changes in color and shape of fingernails and toenails. The remainder of the physical exami- nation was unremarkable. Results of laboratory studies, including complete blood count and differential, erythrocyte sedimenta- tion rate, liver enzymes, albumin, creatinine, antinu- clear antibody, rheumatoid factor, urinalysis, and thyroid function tests were within normal reference ranges. Radiographs of the lower extremities revealed no fractures or other bone abnormalities, and Doppler ultrasonography excluded vein thrombosis. No obstructive lesions were evident on abdominal and pelvic ultrasonography. Lower limb lymphoscintigra- phy showed no evidence of lymph flow in the left lower extremity, suggesting absent lymphatic channels, whereas the right side was unremarkable (Figure 2). The findings persisted at the delayed 2-hour image. After ruling out secondary causes for lymphedema along with the characteristic lymphoscintigraphy, a diagnosis of lymphedema praecox was made. The patient was advised in techniques to keep the leg clean and to help decrease pooling of lymph by plac- ing the limb in an elevated position. Figure 1. Lymphedema praecox in a 13-year-old girl. The left foot, ankle, and lower leg are edematous compared with the right side. Discussion Primary lymphedema, a disorder causing chronic swelling of the extremities, is uncommon in chil- dren, affecting approximately 1.15/100 000 individ- uals aged younger than 20 years.2 In 1 study, 80% of patients with lymphedema praecox had unilateral swelling limited to the knee or ankle.2 Lower limb involvement constitutes most cases of primary lym- phedema; however, edema may also involve the upper extremities, face, or genitalia.1 The distal part of the extremity is affected initially, with proximal exten- sion occurring later. Lymphedema is found in both sexes, although most patients with primary lym- phedema are females. The first step in the diagnostic evaluation of lower extremity lymphedema is the exclusion of secondary 837 Figure 2. (A-E) Serial images from lymphoscintigraphy of lower extremities show the lack of lymph flow in the left lower extremity during the first hour after subcutaneous injection of a tracer. (F) At the delayed 2-hour image, the findings persist. These findings are consistent with abnormal lymphatic drainage due to aplasia or hypoplasia of the lymphatic system in the left lower extremity. causes of unilateral lower limb swelling. Many med- ical conditions can cause unilateral leg swelling that sometimes is difficult to distinguish from lym- phedema. For example, bilateral (and less commonly unilateral) pitting edema is typically associated with congestive heart failure, renal failure, or a hypopro- teinemic state. In patients with unilateral leg edema, the differential diagnosis also includes deep venous thrombosis (DVT), chronic venous insufficiency, and reflex sympathetic dystrophy. A thorough clini- cal history and physical examination will exclude these conditions as well as most of the secondary and syndromic cases of lymphedema. Biochemical tests should exclude hepatic or renal etiologies, and urinalysis should exclude proteinuria. Peripheral edema (“myxedema”) may occur in the setting of hyperthyroidism or hypothyroidism, and thyroid function studies should be ordered. This spe- cial form of edema is caused by the accumulation of nonsulfated glycosaminoglycan, hyaluronan. Complete blood count, acute phase reactants, and autoantibod- ies are necessary to rule out the clinical suspicion of rheumatic diseases (eg, popliteal “Baker” cyst rupture). Doppler ultrasonography as well as pelvic and abdom- inal imaging (ultrasonography or computed tomogra- phy) are an essential part of the initial evaluation to exclude DVT and obstructive lesions that may present with unilateral limb swelling. Secondary (or acquired) unilateral limb lym- phedema is associated with anatomic or functional 838 Table 1. Primary Hereditary Syndromic Lymphedema AD = autosomal dominant; AR = autosomal recessive. a. The mode of inheritance (AD, AR) and gene or chromosome involved (if known) are listed. disruption or extraluminal obstruction of lymph flow by such events as radiotherapy, surgery, trauma, infiltrative process, and infection.3-5 In developed countries, the most common causes of lymph flow obstruction are surgical interventions (eg, lymph node dissection in patients with cancer) and radio- therapy. Postphlebitic syndrome is also a common cause of acquired, regional lymphatic insufficiency. Pelvic causes must be excluded, and acute venous or lymphatic obstruction must be considered. Severe trauma may also result in acute peripheral lym- phedema. Rarely, lymphatic dysfunction can be caused by long-standing venous disease or by direct lymphatic infiltration by invasive cancer. In contrast to secondary lymphedema in devel- oped countries, acquired lymphedema in undevel- oped tropical countries is often caused by filariasis, making secondary lymphedema much more prevalent than primary lymphedema.3 The clinical history of the patient presented in this report was unremark- able, and the initial diagnostic work up did not reveal any etiology. The next step in the evaluation of unilateral lym- phedema is the exclusion of syndromic or familial lymphedemas. To facilitate the evaluation work-up and the differential diagnosis of these different entities, we present an updated classification of unilateral lymphedema,6 taking into consideration the recent advancements made in the genetics of primary lym- phedema7 (Figure 3 and Table 1). Congenital lym- phedema is apparent at birth or becomes recognized within the first year of life. It may occur as an iso- lated condition, examples of which include Milroy disease (Mendelian Inheritance in Man# [MIM] 839 Figure 3. Flowchart classification of unilateral limb lymphedema. HLTS = hypotrichosis-lymphedema-telangiectasia syndrome. *See Table 1 for more details about other hereditary syndromic lymphedema. 153100), or as a component of a complex syndrome such as lymphedema-distichiasis, yellow-nail, Noonan, and Turner syndromes. “Lymphedema congenita” is a diagnosis made by exclusion of familial and syn- dromic congenital lymphedema. Recent studies have identified mutations in dif- ferent genes in patients with primary lymphedema. These genes are progressively expressed during embryogenesis in the blood venous endothelial cells until the acquirement of the lymphatic endothelial cell phenotype, and subsequently, many of these gene products are needed for the specification, dif- ferentiation, and sprouting of the lymphatic vascula- ture system.8-11 Most cases of Milroy disease are caused by muta- tions in a gene that encodes vascular endothelial growth factor receptor-3 (VEGFR-3 gene, also known as FLT4 gene, on chromosome 5q35.3), a tyrosine kinase receptor required for normal lymphatic devel- opment.12,13 Milroy disease has variable expressivity and a 90% penetrance rate. The edema, typically bilaterally and below the knees, can be asymmetrical and associated with large saphenous veins, dysplas- tic toenails, papillomatosis, hydrocele, and urethral abnormalities in males. Mutations in the forkhead transcription factor gene FOXC2 (on chromosome 16q24.3) were found in families with the lymphedema-distichiasis syn- drome (MIM# 153200).14 This is an autosomal- dominant disorder with congenital lymphedema and double rows of eyelashes. The extra row of lashes often results in abrasion of the corneal epithelium and subsequently in its opacification. Occasionally, these patients may have a cleft palate, cardiac defects, and extradural cysts. It has recently been found that almost all patients with FOXC2 mutations have primary 840 venous valve failure in both the superficial and deep veins in the lower limb.15 In 1 study, most patients with VEGFR-3 mutations had congenital lym- phedema and almost all families with FOXC2 muta- tions have a pubertal onset of disease.16 The hypotrichosis-lymphedema-telangiectasia syndrome (MIM #607823) is caused by inactivat- ing mutations in the SOX18 gene, which encodes a transcription factor and can be inherited in either a recessive or dominant mode of inheritance.17 Furthermore, many other genetic syndromes (Table 1) are associated with lymphedema, such as the microcephaly-lymphedema-chorioretinal dyspla- sia (MIM# 152950), lymphedema-ptosis syndrome (MIM# 15300), lymphedema-cholestasis syndrome (MIM# 153300), and the X-linked recessive syndrome of anhidrotic ectodermal dysplasia with immunode- ficiency, osteopetrosis, and lymphedema (MIM# 300301). However, none of the congenital anomalies or physical findings that are associated with these syndromes was found in our patient. The lymphedema in the patient presented here developed after puberty. Meige disease (MIM# 153200) is a late-onset autosomal-dominant inher- ited disease with reduced penetrance and variable expressivity. The genetic basis of this condition is unknown, although 1 family was found to have a mutation in the FOXC2 gene.18 The negative family history in our patient suggested that she has the nonfamilial, puberty-onset lymphedema, known as lymphedema praecox. This lymphedema is more common than Meige disease, may appear as late as the third decade of life, and is usually attributable to lymphatic hypoplasia. The disease is sporadic with variable expressivity, and the risk of future offspring of affected individuals is not increased. Isotopic lymphoscintigraphy is generally considered the gold standard for the diagnosis of lymphedema. The procedure is minimally invasive, repeatable, easy to perform, and harmless to the lymphatic endothelium.4 A radiolabeled tracer is administered into the subdermal region of the affected limb, and the lymphatic flow can be followed with a gamma camera. Lymphangioscintigrams in patients with lymphedema praecox display absent or delayed tracer transport, lack or paucity of lymphatic chan- nels, retrograde diffusion (backflow), and poorly visualized or absent regional lymph nodes.3,4 When the patient is evaluated for lymphatic surgical inter- vention, direct lymphography is necessary to provide more anatomical details. Common complications for lymphedema are recurrent soft tissue infections, cellulitis, and chronic changes in the skin. The soft tissue infection is enhanced by the excessive accumulation of protein- rich interstitial fluid in the affected limb and by the impaired local immune responses. Recurrent episodes of soft tissue infection may aggravate the lymphedema by damaging the small residual of lymphatics. Lymphangiosarcoma is a rare, aggressive, vascular neoplasm arising in chronic congenital or acquired lymphedema.19 Although it is most frequently associ- ated with postmastectomy lymphedema (Stewart- Treves syndrome), it has also been described in congenital nonhereditary lymphedema.20 The management of primary lymphedema is con- servative and usually is successful for most patients. Avoiding prolonged standing and elevation of the affected limb, coupled with skin care, is sufficient for the uncomplicated mild cases of lymphedema. A par- ticular emphasis on skin care is important to reduce the increased risk of cellulitis and lymphangitis. Maneuvers that enhance lymphatic drainage, such as compression (pneumatic pumps and compressive gar- ments), special exercise, and manual lymphatic drainage are also recommended.21 Coumarin has been shown in several studies to be effective in treating lymphedema, particularly when used in conjunction with complex physical therapy.22 However, the associated idiosyncratic hepatotoxic effect and the inconsistency of the results in the clinical trial limit its use. The long- term use of diuretics is not beneficial and therefore is discouraged.23 When medical management fails, surgical intervention is indicated as the last option. Surgical alternatives include bypass procedures and debulking operations that aim to improve lymph flow and to remove lymphedematous tissue, respectively.6 Treatment by gene therapy is inten- sively investigated. Overexpression of VEGF-C through the use of a recombinant adenovirus pro- motes therapeutic lymphangiogenesis in a rabbit model of acquired lymphedema.24 References Szuba A., Rockson SG Lymphedema: classification, diagnosis and therapy. Vasc Med. 1998;3:145-156. Smeltzer DM, Stickler GB, Schirger A. Primary lymphedema in children and adolescents: a follow-up study and review . Pediatrics. 1985;76:206-218. 841 Szuba A., Shin WS, Strauss HW, Rockson S. The third circulation: radionuclide lymphoscintigraphy in the evaluation of lymphedema. J Nucl Med. 2003;44:43-57. Williams WH, Witte CL, Witte MH, McNeill GC Radionuclide lymphangioscintigraphy in the evaluation of peripheral lymphedema . Clin Nucl Med. 2000;25: 451-464. Witte CL, Witte MH, Unger EC, et al. Advances in imaging of lymph flow disorders. Radiographics. 2000;20: 1697-1719. Tiwari A., Cheng KS, Button M., Myint F., Hamilton G. Differential diagnosis, investigation, and current treatment of lower limb lymphedema. Arch Surg. 2003;138:152-161. Northup KA, Witte MH, Witte CL Syndromic classification of hereditary lymphedema. Lymphology . 2003;36: 162-189. An A., Rockson SG The potential for molecular treatment strategies in lymphatic disease. Lymphat Res Biol. 2004;2:173-181. Cueni LN, Detmar M. New insights into the molecular control of the lymphatic vascular system and its role in disease. J Invest Dermatol. 2006 ;12:2167-2177. Oliver G. Lymphatic vasculature development. Nat Rev Immunol. 2004;4:35-45. Witte MH, Bernas MJ, Martin CP, Witte CL Lymphangiogenesis and lymphangiodysplasia: from molecular to clinical lymphology . Microsc Res Tech. 2001;55:122-145. Brice G., Child AH, Evans A., et al. Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet. 2005;42: 98-102. Karkkainen MJ, Ferrell RE, Lawrence EC, et al. Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nat Genet. 2000;25:153-159. Fang J., Dagenais SL, Erickson RP, et al. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome . Am J Hum Genet. 2000;67:1382-1388. Mellor RH, Brice G., Stanton AW, et al. Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb. Circulation. 2007;115: 1912-1920. Levinson KL , Feingold E., Ferrell RE, Glover TW, Traboulsi EI, Finegold DN Age of onset in hereditary lymphedema. J Pediatr. 2003;142:704-708. Irrthum A., Devriendt K., Chitayat D., et al. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedematelangiectasia. Am J Hum Genet. 2003;72: 1470-1478. Finegold DN , Kimak MA, Lawrence EC, et al. Truncating mutations in FOXC2 cause multiple lymphedema syndromes. Hum Mol Genet. 2001;10:1185-1189. Ruocco V., Schwartz RA, Ruocco E. Lymphedema: an immunologically vulnerable site for development of neoplasms . J Am Acad Dermatol. 2002;47:124-127. 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<mods version="3.6"><titleInfo lang="en"><title>Lymphedema of the Lower Extremity: Is It Genetic or Nongenetic?</title>
</titleInfo>
<titleInfo type="alternative" lang="en" contentType="CDATA"><title>Lymphedema of the Lower Extremity: Is It Genetic or Nongenetic?</title>
</titleInfo>
<name type="personal"><namePart type="given">Marwan</namePart>
<namePart type="family">Shinawi</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas,</affiliation>
<affiliation>E-mail: mshinawi@bcm.tmc.edu</affiliation>
</name>
<typeOfResource>text</typeOfResource>
<genre type="research-article" displayLabel="research-article"></genre>
<originInfo><publisher>Sage Publications</publisher>
<place><placeTerm type="text">Sage CA: Los Angeles, CA</placeTerm>
</place>
<dateIssued encoding="w3cdtf">2007-11</dateIssued>
<copyrightDate encoding="w3cdtf">2007</copyrightDate>
</originInfo>
<language><languageTerm type="code" authority="iso639-2b">eng</languageTerm>
<languageTerm type="code" authority="rfc3066">en</languageTerm>
</language>
<physicalDescription><internetMediaType>text/html</internetMediaType>
</physicalDescription>
<abstract lang="en">Lymphedema of the lower extremities is a diagnostic challenge. Exclusion of secondary causes of limb swelling and secondary lymphedema is the initial step. Primary lymphedema is classified into idiopathic and familial (hereditary) subgroups. Hereditary lymphedema can be nonsyndromic or associated with congenital anomalies or with abnormal physical findings. A 13-year-old girl presented with unilateral lower extremity lymphedema. Her medical and family history was unremarkable. The physical examination was negative for dysmorphic features and congenital anomalies. Lymphoscintigraphy showed no evidence of lymph flow in the left lower extremity, which persisted at the delayed 2-hour image. A comprehensive clinical and family history that includes a thorough physical examination are the mainstays of the medical assessment of lymphedema in children. Isotopic lymphoscintigraphy is generally considered the gold standard for confirmation of the diagnosis. This article discusses the differential diagnosis, reviews the literature, and suggests a simplified and an updated flowchart for the classification of unilateral limb lymphedema in children.</abstract>
<subject><genre>keywords</genre>
<topic>lymphedema</topic>
<topic>syndromic</topic>
<topic>genetic</topic>
<topic>lymphoscintigraphy</topic>
<topic>lymphangiogenesis</topic>
</subject>
<relatedItem type="host"><titleInfo><title>Clinical Pediatrics</title>
</titleInfo>
<genre type="journal">journal</genre>
<identifier type="ISSN">0009-9228</identifier>
<identifier type="eISSN">1938-2707</identifier>
<identifier type="PublisherID">CPJ</identifier>
<identifier type="PublisherID-hwp">spcpj</identifier>
<part><date>2007</date>
<detail type="volume"><caption>vol.</caption>
<number>46</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>9</number>
</detail>
<extent unit="pages"><start>835</start>
<end>841</end>
</extent>
</part>
</relatedItem>
<identifier type="istex">D75D84254DB4F9D9CB79C037FF8159BB07CC72E5</identifier>
<identifier type="DOI">10.1177/0009922807303545</identifier>
<identifier type="ArticleID">10.1177_0009922807303545</identifier>
<recordInfo><recordContentSource>SAGE</recordContentSource>
</recordInfo>
</mods>
</metadata>
<serie></serie>
</istex>
</record>

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Lymphedema of the Lower Extremity: Is It Genetic or Nongenetic?

Lymphedema of the Lower Extremity: Is It Genetic or Nongenetic?

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