Primary intestinal lymphangiectasia with lymphedema of lower extremities
Abstract
Primary intestinal lymphangiectasia (PIL), also known as Waldmann’s disease, is a rare disorder manifested
by the presence of dilated intestinal lymphatic ducts and leading to protein-losing enteropathy. PIL usually
presents early in childhood; however, rarely may be also diagnosed in adults. Suggestive laboratory findings
include hypoproteinemia, hypoalbuminemia, and hypogammaglobulinemia. Peripheral pitting edema due to
hypoalbuminemia is the main clinical feature. Peripheral lymphedema is a less common symptom. We present
a case of a 23-year-old woman with lymphedema of lower extremities and PIL diagnosed in childhood.
Keywords: lymphaticslymphedemaprotein-losing entheropathyhypoalbuminemia
References
- Vignes S, Bellanger J. Primary intestinal lymphangiectasia (Waldmann's disease). Orphanet J Rare Dis. 2008; 3: 5.
- Ingle SB, Hinge Ingle CR. Primary intestinal lymphangiectasia: Minireview. World J Clin Cases. 2014; 2(10): 528–533.
- Lopez RN, Day AS. Primary intestinal lymphangiectasia in children: A review. J Paediatr Child Health. 2020; 56(11): 1719–1723.
- Abramowsky C, Hupertz V, Kilbridge P, et al. Intestinal lymphangiectasia in children: a study of upper gastrointestinal endoscopic biopsies. Pediatr Pathol. 1989; 9(3): 289–297.
- Lee WS, Boey CC. Chronic diarrhoea in infants and young children: causes, clinical features and outcome. J Paediatr Child Health. 1999; 35(3): 260–263.
- Goktan C, Pekindil G, Orguc S, et al. Bilateral breast edema in intestinal lymphangiectasia. Breast J. 2005; 11(5): 360.
- Wen J, Tang Q, Wu J, et al. Primary intestinal lymphangiectasia: four case reports and a review of the literature. Dig Dis Sci. 2010; 55(12): 3466–3472.
- Lee SJ, Song HJ, Boo SJ, et al. Primary intestinal lymphangiectasia with generalized warts. World J Gastroenterol. 2015; 21(27): 8467–8472.
- Maconi G, Molteni P, Manzionna G, et al. Ultrasonographic features of long-standing primary intestinal lymphangiectasia. Eur J Ultrasound. 1998; 7(3): 195–198.
- Mazzie J, Maslin P, Moy L, et al. Congenital intestinal lymphangiectasia. Clinical Imaging. 2003; 27(5): 330–332.
- Yang DMo, Jung DH. Localized intestinal lymphangiectasia: CT findings. AJR Am J Roentgenol. 2003; 180(1): 213–214.
- Sun X, Shen W, Chen X, et al. Primary intestinal lymphangiectasia: Multiple detector computed tomography findings after direct lymphangiography. J Med Imaging Radiat Oncol. 2017; 61(5): 607–613.
- Szuba A, Shin WS, Strauss HW, et al. The third circulation: radionuclide lymphoscintigraphy in the evaluation of lymphedema. J Nucl Med. 2003; 44(1): 43–57.
- Prasad D, Srivastava A, Tambe A, et al. Clinical Profile, Response to Therapy, and Outcome of Children with Primary Intestinal Lymphangiectasia. Dig Dis. 2019; 37(6): 458–466.
- Sari S, Baris Z, Dalgic B. Primary intestinal lymphangiectasia in children: is octreotide an effective and safe option in the treatment? J Pediatr Gastroenterol Nutr. 2010; 51(4): 454–457.
- Chen CP, Chao Y, Li CP, et al. Surgical resection of duodenal lymphangiectasia: a case report. World J Gastroenterol. 2003; 9(12): 2880–2882.
- Hammill AM, Wentzel M, Gupta A, et al. Sirolimus for the treatment of complicated vascular anomalies in children. Pediatr Blood Cancer. 2011; 57(6): 1018–1024.
- Ozeki M, Hori T, Kanda K, et al. Everolimus for Primary Intestinal Lymphangiectasia With Protein-Losing Enteropathy. Pediatrics. 2016; 137(3): e20152562.
- Szuba A, Rockson SG. Lymphedema: classification, diagnosis and therapy. Vasc Med. 1998; 3(2): 145–156.