A Doctors’ Perspective

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Preface

This is a partial re-print (with headings added for readability) of a case study of a patient with pelvic and internal involvement.  Expressly for the purpose passing on one of the better professional descriptions of K-T only the definitional sections are republished here.  The complete References are also published here.  In the event you’re interested in the complete surgical procedure and related research, the original article is Visceral Manifestations of Klippel-Trénaunay Syndrome, By: Susan H. Cha, MD, Michael A. Romeo, DO and Janet A. Neutze, MD.

History

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).

Definition

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).

Topology

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).

Diagnosis

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 Genetics

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).

Acknowledgments

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.