Klippel–Trenaunay–Weber syndrome with atypical presentation of hypersplenism and nephrotic syndrome: a case report

BACKGROUND: 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. CASE PRESENTATION: 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. CONCLUSIONS: 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.