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Klippel–Trenaunay–Weber syndrome with atypical presentation of hypersplenism and nephrotic syndrome: a case report
© The Author(s). 2017
Received: 4 July 2017
Accepted: 2 August 2017
Published: 21 August 2017
Klippel–Trenaunay–Weber syndrome is a rare syndrome; unfortunately, very few studies of the connection between hypersplenism, nephrotic syndrome, and Klippel–Trenaunay–Weber syndrome have been published.
We report the case of a 40-year-old white man with a typical clinical presentation of Klippel–Trenaunay–Weber syndrome, including “port-wine stains,” varicose veins, hypertrophy of lower extremities, and arteriovenous fistula, as well as an unfortunate development of hypersplenism and nephrotic syndrome.
This case report described considerable atypical relevance of Klippel–Trenaunay–Weber syndrome and hypersplenism together with nephrotic syndrome. A multidisciplinary approach was made. Unfortunately, hypersplenism is characterized by pancytopenia that suggests splenectomy, whereas nephrotic syndrome is an indication for renal biopsy; the splenectomy and renal biopsy were delayed due to our patient’s severe condition. Deeper analysis including study of other patients with Klippel–Trenaunay–Weber syndrome would help us to understand the connection between elevated spleen and liver sizes, nephrotic syndrome, and Klippel–Trenaunay–Weber syndrome.
KeywordsKlippel–Trenaunay–Weber syndrome Hypersplenism Nephrotic syndrome
Klippel–Trenaunay–Weber syndrome (KTWS), defined as a sporadic disorder, is characterized by “port-wine stains,” lymphatic anomalies, and varicose veins in association with variable overgrowth of soft tissue and bone that is present at birth together with arteriovenous malformations [1–3]. The diagnosis of KTWS is based on physical signs and symptoms, as well as genetic testing; computed tomography (CT), magnetic resonance imaging (MRI), and Doppler studies may be useful in determining the extent of the condition and the best way for managing it [2–5]. Very few studies of a connection between hypersplenism, nephrotic syndrome, and KTWS have been published.
This case showed a typical presentation of KTWS, including signs like port-wine stains, varicose veins, hypertrophy of low extremities, and arteriovenous fistula. However, an unusual presentation of KTWS was also displayed: KTWS and nephrotic syndrome combined with hypersplenism, which was probably caused by numerous hemangiomas found in his spleen and liver. Splenectomy was suggested due to multiple transfusions of red blood cells, which were prescribed during his hospitalization and did not lead to long-term improvement. A renal biopsy, which is performed to verify cause of nephrotic syndrome, was delayed due to his severe condition. The connection between KTWS, hypersplenism, and nephrotic syndrome is still unclear due to the rare presentation of KTWS itself. A renal biopsy could help to identify the cause of nephrotic syndrome, leading to a better comprehension of the unclear connection between KTWS, hypersplenism, and nephrotic syndrome.
Signs like port-wine stains, varicose veins, hypertrophy of lower extremities, and arteriovenous fistula are typical of KTWS. This case showed considerable atypical relevance: KTWS and hypersplenism together with nephrotic syndrome. Unfortunately, hypersplenism is characterized by pancytopenia that suggests splenectomy, whereas nephrotic syndrome is an indication for renal biopsy; the splenectomy and renal biopsy were delayed due to our patient’s severe condition. Deeper analysis including study of other patients with KTWS would help us to understand the connection between elevated spleen and liver sizes, nephrotic syndrome, and KTWS.
Availability of data and materials
LK: data collection, writing of the manuscript, and correction of the manuscript. SL: data collection, writing of the manuscript, and correction of the manuscript. Both authors read and approved the final manuscript.
Ethics approval and consent to participate
Yes. Riga Stradiņš University Ethical Committee.
Consent for publication
Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
The authors declare that they have no competing interests.
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- Oduber CE, van der Horst CM, Hennekam RC. Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. Ann Plast Surg. 2008;60:217–23.View ArticlePubMedGoogle Scholar
- Sung HM, Chung HY, Lee SJ, Lee JM, Huh S, Lee JW, et al. Clinical Experience of the Klippel-Trenaunay Syndrome. Arch Plast Surg. 2015;42(5):552–8.View ArticlePubMedPubMed CentralGoogle Scholar
- Cohen Jr MM. Klippel-Trenaunay syndrome. Am J Med Genet. 2000;93(3):171–5.View ArticlePubMedGoogle Scholar
- Husmann DA, Rathburn SR, Driscoll DJ. Klippel-Trenaunay syndrome: incidence and treatment of genitourinary sequelae. J Urol. 2007;177(4):1244–9.View ArticlePubMedGoogle Scholar
- Hu Y, Li L, Seidelmann SB, et al. Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program. Ann Hum Genet. 2008;72:636–43.View ArticlePubMedPubMed CentralGoogle Scholar