DOI: 10.1148/rg.256055042
RadioGraphics 2005;25:1694-1697
© RSNA, 2005
Visceral Manifestations of Klippel-Trénaunay Syndrome1
Susan H. Cha, MD,
Michael A. Romeo, DO and
Janet A. Neutze, MD
1 From the Department of Radiology (H066), Milton S. Hershey Medical Center, Penn State University School of Medicine, 500 University Dr, Hershey, PA 17033. Received March 7, 2005; revision requested April 5 and received May 26; accepted May 27. All authors have no financial relationships to disclose.
Address correspondence to J.A.N. (e-mail: jneutze{at}psu.edu).
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History
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A 60-year-old man with Klippel-Trénaunay syndrome presented to an outside hospital with significant lower gastrointestinal bleeding and a history of massive vascular malformation of the lower gastrointestinal tract. The patient was transferred to our institution for definitive care. At physical examination, varices were found on his left lower extremity, scrotum (Fig 1), and rectum. He had a history of intermittent self-limited gastrointestinal bleeding for several years, but, at the current admission, he experienced persistent bleeding that required transfusion of 12 units of blood before the transfer to our institution.
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Imaging Findings
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Preoperative computed tomography (CT) showed marked mural thickening of the sigmoid colon, rectum, and bladder (Fig 2), characterized by tubular areas of low attenuation. Punctate areas of calcific attenuation, consistent with phleboliths, were contained within the tubular areas. The pattern of mural thickening with phleboliths is consistent with the appearance of varices. Varices were also identified in the subcutaneous tissues of the left flank (Fig 2 ), sigmoid mesentery (Fig 3), and left buttock (Fig 4). There were phleboliths of the anterior bladder wall (Fig 2a) and the rectosigmoid wall (Fig 2b). Scrotal varices and phleboliths were also seen (Fig 4).
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Figure 2a. Axial CT scans show marked rectosigmoid wall thickening (* in a) as a result of varices and vascular malformations and phleboliths of the anterior bladder wall (arrow in a) and rectosigmoid colon (arrow in b). Numerous subcutaneous varices of the left flank (arrowhead) are also seen.
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Figure 2b. Axial CT scans show marked rectosigmoid wall thickening (* in a) as a result of varices and vascular malformations and phleboliths of the anterior bladder wall (arrow in a) and rectosigmoid colon (arrow in b). Numerous subcutaneous varices of the left flank (arrowhead) are also seen.
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Pathologic Evaluation
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The patient underwent emergent bedside sigmoidoscopy, followed by emergency surgery with low anterior resection for removal of the abnormal distal colon. Abdominal exploration revealed extensive varices of the sigmoid colon (Fig 5) and rectum, as well as varices encasing the bladder anteriorly. The wall of the rectum measured 8–10 cm in breadth because of the vascular malformations. The remaining portions of the small intestine, stomach, liver, and gallbladder appeared normal. The sigmoid colon and rectum were dissected, with extensive bleeding of the perirectal tissues. Throughout the course of the surgery, the patient developed increasing pelvic bleeding and worsening coagulopathy, necessitating dense pelvic packing and closure. The patient returned to the operating room several times in the following days, and during his 4-week hospital stay, he received over 100 units of blood products.
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Discussion
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In 1900, the French physicians Klippel and Trénaunay (1) first described a syndrome characterized by a capillary nevus of the affected extremity, lateral limb hypertrophy, and varicose veins. In 1918, Weber (2) noted the association of these findings with arteriovenous fistulas. Some authors use the term Klippel-Trénaunay-Weber syndrome to describe the conditions affecting those individuals who have clinically significant arteriovenous malformations as a component of their Klippel-Trénaunay syndrome (KTS) (3). Other authors prefer to separate these two conditions and use the term Parkes-Weber syndrome to describe the condition in those patients who have arteriovenous malformations in addition to KTS (4).
Klippel-Trénaunay syndrome is now defined as a combination of capillary malformations, soft-tissue or bone hypertrophy, and varicose veins or venous malformations. The diagnosis of KTS can be made when any two of the three features are present (5). Most cases of KTS are sporadic; the syndrome affects males and females equally, has no racial predilection, and manifests at birth or during childhood (5).
Hypertrophy is the most variable of the three classic features of KTS (5). Enlargement of the extremity consists of bone elongation, circumferential soft-tissue hypertrophy, or both (3,5,6). At clinical examination, hypertrophy often manifests as leg-length discrepancy, although any limb may be affected (3,6). Significant limb-length discrepancy, defined as that amount that would necessitate orthopedic intervention, is relatively uncommon, occurring in only 14% of patients in one study (3).
Capillary malformations are the most common cutaneous manifestation of KTS (5). Typically, capillary malformations involve the enlarged limb, although skin changes may be seen on any part of the body (3). The lower limb is the site of malformations in approximately 95% of patients (3). When found on the trunk, the malformations rarely cross the midline (3,7). If large enough, the cutaneous lesions may sequester platelets, possibly leading to Kasabach-Merritt syndrome, a type of consumptive coagulopathy (8).
The vascular changes found in KTS are congenital (3). Unlike blood vessel tumors, in which endothelial cells grow in excess, vessels in vascular malformations have normal numbers of endothelial cells, but the vessels are improperly formed and are remodeled. Therefore, these lesions do not respond to the agents used to treat hemangiomas, and the term hemangioma should be avoided in the description of the cutaneous findings in KTS (3).
Varicose veins are present in a majority of patients with KTS (6). Venous malformations can occur in both the superficial and deep venous systems (3,5). Superficial venous abnormalities range from ectasia of small veins to persistent embryologic veins and large venous malformations (5). Deep venous abnormalities include aneurysmal dilatation, aplasia, hypoplasia, duplications, and venous incompetence (3,5).
Complications are most often related to the underlying vascular pathologic condition. Complications include stasis dermatitis; thrombophlebitis; cellulitis; and more serious sequelae such as thrombosis, coagulopathy, pulmonary embolism, congestive heart failure (in patients with arteriovenous malformations), and bleeding from abnormal vessels in the gut, kidney, and genitalia (3,5,7).
Vascular malformations involving the gastrointestinal and genitourinary tracts have been reported and can be a significant source of morbidity and even mortality. Patients with vascular malformations of the bladder frequently have associated rectosigmoid or other pelvic organ involvement (6,9,10). Rectal and bladder hemorrhage are serious complications of pelvic vascular malformations and have been reported in 1% of cases (10).
Involvement of the gastrointestinal tract may be more common in KTS than previously believed (occurring in perhaps as many as 20% of patients) and may go unrecognized in patients without overt symptoms (10–12). Bleeding is the most common symptom reported in KTS patients with gastrointestinal involvement (10–12). The most frequently reported sites of gastrointestinal involvement in these patients are the distal colon and rectum (10–12). Clinical manifestations range from occult bleeding to massive, life-threatening hemorrhages and consumptive co-agulopathy.
Genitourinary involvement in patients with KTS seems to occur in the more severe cases. The absence of severe limb varicosities or venous malformations does not preclude the presence of pelvic involvement (5). Intraabdominal and intrapelvic extension of the vascular malformations of KTS frequently occurs concurrently with the lower abdominal, pelvic, and cutaneous involvement of the external genitalia (9). Gross hematuria, which is recurrent and painless, is usually the first clinical sign of bladder involvement and frequently manifests early in life (6,9). Vascular malformations are often located on the anterior bladder wall and dome. The trigone and bladder neck are rarely involved (9,13). Genital lesions usually do not cause clinical problems for patients with KTS; however, some patients who report erectile dysfunction have abnormal penile veins (14).
Imaging plays an important role in the diagnosis and ongoing evaluation of KTS. At radiography, phleboliths in a very young patient are pathognomonic for venous malformations and are manifestations of prior hemorrhage or thrombus (8,15,16). Barium studies can show luminal narrowing of the affected small and large bowel that is distensible, with a scalloped mucosal outline caused by the presence of varicosities or submucosal vascular malformations (8,11). Sonography may be used to identify the abnormal veins and varicosities (15). CT of the abdomen and pelvis provides a simple, noninvasive means of assessing visceral vascular malformations (11,15). Magnetic resonance (MR) imaging is performed to assess the soft-tissue extent of vascular malformations in patients with KTS (15). The role of MR angiography in analyzing vascular malformations in KTS has not been well defined, but the modality has the potential to depict these lesions with better accuracy (11). In cases of hemorrhage that require surgical intervention, preoperative angiography is required to define the anatomy and extent of intestinal involvement to guide surgical resection (11,12).
Management and treatment of gastrointestinal and genitourinary vascular malformations in KTS depend on the extent and severity of blood loss (9,11). Transfusion dependency and life-threatening bleeding episodes necessitate definitive surgical therapy. In the case of gastrointestinal bleeding, definitive therapy involves resection of the diseased bowel. Both partial cystectomy and conservative treatment have been successful in the treatment of gross hematuria associated with genitourinary vascular malformations (9).
It is important to note that patients with KTS frequently have additional vascular malformations beyond the classic triad of capillary malformations, soft-tissue or bone hypertrophy, and varicose veins or venous malformations. These malformations can include abnormalities in the arteries and lymphatic vessels and in various parts of the body (3,5,7). These variations in symptoms strongly suggest that KTS is genetically heterogeneous and affected by many factors.
Until recently, genetic links to the origin of KTS were lacking. In 2004, Tian et al (17) described two genetic defects in an angiogenic protein, VG5Q, in patients with KTS. This mutation, named E133K, changes the property of the protein such that it may potentially be hyperactive and stimulate angiogenesis more strongly than the normal VG5Q protein (17). However, the genetic basis of KTS is far from being solved. The chromosomal translocation has been found in only one affected child, and the E133K mutation is present in less than 4% of KTS patients (17).
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Summary
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Visceral manifestations of KTS are uncommon but not rare. Patients may present with life-threatening bleeding. Current research suggests there may be a genetic link to KTS that could affect treatment and genetic counseling.
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Acknowledgments
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We thank Amanda Padilla, Department of Radiology, Penn State University, Milton S. Hershey Medical Center, Hershey, Penn, for her technical assistance in the preparation of the manuscript.
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References
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- Weber FP. Haemangiectatic hypertrophy of limbs: congenital phlebarteriectasis and so-called congenital varicose veins. Br J Child Dis
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- Berry SA, Peterson C, Mize W, et al. Klippel-Trénaunay syndrome. Am J Med Genet
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- Ghahremani GG, Kangarloo H, Volberg F, Meyers MA. Diffuse cavernous hemangioma of the colon in the Klippel-Trénaunay syndrome. Radiology
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- Schmitt B, Posselt HG, Waag KL, Muller H, Bender SW. Severe hemorrhage from intestinal hemangiomatosis in Klippel-Trénaunay syndrome: pitfalls in diagnosis and management. J Pediatr Gastroenterol Nutr
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- Fuleihan FM, Cordonnier JJ. Hemangioma of the bladder: report of a case and review of the literature. J Urol
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- Kanterman RY, Witt PD, Hsieh PS, Picus D. Klippel-Trénaunay syndrome: imaging findings and percutaneous intervention. AJR Am J Roentgenol
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- Tian XL, Kadaba R, You SA, et al. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trénaunay syndrome. Nature
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History
Imaging Findings
