Primary intestinal lymphangiectasia: Minireview

Abstract

Primary idiopathic intestinal lymphangiectasia is an unusual disease featured by the presence of dilated lymphatic channels which are located in the mucosa, submucosa or subserosa leading to protein loosing enteropathy.Most often affected were children and generally diagnosed before third year of life but may be rarely seen in adults too. Bilateral pitting oedema of lower limb is the main clinical manifestation mimicking the systemic disease and posing a real diagnostic dilemma to the clinicians to differentiate it from other common systemic diseases like Congestive cardiac failure, Nephrotic Syndrome, Protein Energy Malnutrition, etc. Diagnosis can be made on capsule endoscopy which can localise the lesion but unable to take biopsy samples. Thus, recently double-balloon enteroscopy and biopsy in combination can be used as an effective diagnostic tool to hit the correct diagnosis. Patients respond dramatically to diet constituting low long chain triglycerides and high protein content with supplements of medium chain triglyceride. So early diagnosis is important to prevent untoward complications related to disease or treatment for the sake of accurate pathological diagnosis.

Marginal Zone Lymphoma Complicated by Protein Losing Enteropathy

“…Primary intestinal lymphangiectasia (PIL) is a rare condition [11] that can be complicated by the development of lymphoma [21, 22]. It remains unclear whether in these cases lymphangiectasia promotes lymphoma or an indolent lymphoma precedes lymphangiectasia.…”

“…Diagnostic clues for increased lymphatic pressure include dilated lymphatic vessels (lymphangiectasia) on histological specimen. Intestinal lymphangiectasia has been described as a primary condition or as a complication of other diseases [11]. Secondary causes for increased lymphatic pressure include cardiac disease, portal hypertension, damage or injury of retroperitoneal lymph nodes, for instance, after surgery, chemotherapy or infectious or malignant conditions, or Turner's syndrome [12].…”

CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease

“…Initial studies described PIL as a condition characterized by the early onset of massive, frequently asymmetrical edema, hypoproteinemia, lymphocytopenia, mild gastrointestinal symptoms, and generalized disorders of lymphatic channels including dilated telangiectatic lymphatic vessels of the submucosa of the small bowel. Some patients may have PIL as an isolated condition without any identifiable associated systemic features, while others have PIL as part of a lymphatic dysplasia syndrome or a well‐defined genetic abnormality . The pathophysiology of isolated PIL largely remains unknown.…”

“…Intestinal lymphangiectasia can be an isolated condition or sometimes may constitute a syndromic component of a lymphatic dysplasia disorder . Some of the key syndromes associated with IL are summarized below.…”

A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression

“…Indeed, mutations of genes along the VEGFR3 signaling pathway, including FLT4, GCJ2, and PTPN14 have been implicated in isolated primary lymphedema, whereas mutations in FOXC2, SOX18, GATA2, IKBKG, FAT4, and CCBE1 have been implicated in syndromic primary lymphedema [18–20]. In contrast, there are no genetic etiologies for patients with isolated or syndromic primary intestinal lymphangiectasia [21, 22]. In this context, we studied two siblings with HS and attempted to characterize the CCBE1 mutations found.…”