Intestinal Lymphangiectasia: Insights on Management and Literature Review

Abstract

Patient: Male, 24Final Diagnosis: Intestinal lymphangiectasiaSymptoms: Frequent episodes of diarrhea • recurrent infections • swelling in the lower limbsMedication: Octreotide • MCT oilsClinical Procedure: Endoscopic exam • Doppler ultrasound study • abdominal CT scanSpecialty: Gastroenterology and HepatologyObjective:Rare diseaseBackground:Intestinal lymphangiectasia (IL) is a rare disease characterized by a dilatation of the intestinal lymphatics and loss of lymph fluid into the gastrointestinal tract leading to hypoproteinemia, edema, lymphocytopenia, hypogammaglobinemia, and immunological abnormalities. Iron, calcium, and other serum components (e.g., lipids, fat soluble vitamins) may also be depleted. A literature search revealed more than 200 reported cases of IL. Herein, we report our observations of a patient diagnosed with IL; we also present our conclusion for our review of the published literature.Case Report:A 24-year-old male was admitted to Aleppo University Hospital with the complaints of abdominal pain, headache, arthralgia, fever, and rigors. His past medical history was remarkable for frequent episodes of diarrhea, recurrent infections, and swelling in the lower limbs. In addition, he had been hospitalized several times in non-academic hospitals due to edema in his legs, cellulitis, and recurrent infections. In the emergency department, a physical examination revealed a patient in distress. He was weak, dehydrated, pale, and had a high-grade fever. His lower extremities were edematous, swollen, and extremely tender to touch. The overlying skin was erythematous and warm. Moreover, the patient was tachycardic, tacypneic, and moderately hypotensive. The patient was resuscitated with IV fluids, and Tylenol was administered to bring the temperature down. Blood tests showed anemia and high levels of inflammatory markers. The patient’s white blood cell count was elevated with an obvious left shift. However, subsequent investigations showed that the patient had IL. Suitable diet modification plans were applied as a long-term management plan.Conclusions:IL is a rare disease of challenging nature due to its systematic effects and lack of comprehensive studies that can evaluate the effectiveness of specific treatments in a large cohort of patients. Medium-chain triglyceride (MCT) oils and diet modification strategies are effective in reducing the loss of body proteins and in maintaining near-normal blood levels of immunoglobulins. However, octreotide and MCT oils had no proven role in reducing lymphedema in our patient.

Novel Magnified Single-Balloon Enteroscopy Enables Observation of Jejunal White Spots Associated with Lymphangiectasia

“…However, there are a few studies reporting the use of endoscopic observation for small bowel lesions. A review of these reports indicates that typical endoscopic findings in PIL include mucosal changes showing white spots and nodules (dilated lacteals), with scattered white spots having a snowflake-like appearance [8,9].…”

From edematous syndrome to the diagnosis of "intestinal lymphangiectasia" (clinical observation of a rare disease)

“…Пять синдромов ассоциированы с ИЛ [2][3][4][5][6]: фон Реклингаузена, Тернера (Х0), Нуана, Клиппеля -Тре ноне, Хеннекама. Как правило, эти синдромы доста точно легко диагностировать по наличию аномалий на лице (Тернера, Хеннекама), замедленного умствен ного развития (Хеннекама), судорог (Хеннекама), выраженной лимфедемы конечностей и/или лица (Хеннекама), нейрофибром и других опухолей (фон Реклингаузена), гемигипертрофии конечностей, ассо циированной с сосудистыми мальформациями (Клип пеля -Треноне).…”

“…Диагностика. ИЛ подтверждается обнаружени ем интестинальной лимфангиэктазии по данным гистологического исследования биоптата, получен ного в ходе эндоскопического исследования тонкой кишки [2][3][4][5][6]. Макроскопически ИЛ характеризует ся нежно кремовым, почти желтым окрашиванием ворсинок в сочетании со значимой дилатацией лимфатических сосудов.…”

“…При ИЛ могут быть изменены (дилатация) множество или только несколько интестинальных лимфатических сосу дов. В случае сегментарного или локального пора жения лимфатических сосудов верхняя эндоскопия может дать отрицательные результаты, в таких слу чаях целесообразно проведение видеокапсульной эндоскопии, которая имеет максимальную специ фичность в диагностике ИЛ, независимо от ее лока лизации [2][3][4][5][6].…”

“…Иногда течение заболевания сопровождается по явлением диареи, синдрома мальабсорбции, механи ческой непроходимостью тонкой кишки (обуслов ленной локальным отеком, приводящим к утолще нию и сокращению стенки кишечника). Больные ИЛ часто страдают целиакией, имеют сопутствующий железодефицит и анемию, редко -страдают рециди вирующим гемолитическим уремическим синдро мом, остеомаляцией [2][3][4][5][6]. В ряде случаев ИЛ может манифестировать рецидивирующими гастроинтести нальными кровотечениями.…”