SAGES Magazine

THE SOUTH AFRICAN GASTROENTEROLOGY REVIEW 2023 | VOLUME 21 | ISSUE 1 | 15 CASE SERIES Introduction Protein-losing enteropathy (PLE) is a relatively rare entity with several causes and associations characterized by an excessive loss of protein from the gastrointestinal tract. The clinical presentation is variable and depends on the underlying cause. Given its rarity, under diagnosis may exist. The clinical presentation is ubiquitous due to the wide range of causes. The dominant clinical features is oedema, with or without pleural and pericardial effusions. Biochemically hypoalbuminemia, with invariable normal renal and liver function, is characteristic 2,3 . Diagnostic confirmation is based on the determination of fecal alpha-1 antitrypsin clearance. An appropriate evaluation for an aetiology is key to prompt management thereby limiting morbidity and even mortality 4,5 . Patients and methods We retrospectively reviewed our records and identified 9 patients from the Paediatric Emergency and Resuscitation Department of HediChaker Hospital bewteen 2004 to 2021. PLE diagnosis was confirmed by increased faecal clearance of alpha-1- antitrypsin. Inclusion criteria included age < 16 years old, hospitalization during the study period, children in whom the diagnosis of PLE was confirmed. All clinical, biochemical and management data, was documented. Our study was approved by the hospital ethics committee. Results Nine patients with PLE, 5 boys and 4 girls, with a mean age of 6 years at diagnosis were identified. Presentations ranged from anasarca with chronic diarrhea in 3 patients, oedema of the lower limbs with a pleural effusion and pericarditis in 3 patients, jaundice with pruritus in 1 patient, arthralgia and abdominal pain and purpura in another and lymphoedema with recurrent erysipelas in a single patient. Plasma protein electrophoresis revealed hypoalbuminemia a mean of 22.9g/l. The clearance of alpha 1 antitrypsin was increased with a mean level of 39.6ml/24h. Endoscopy was performed in four patients revealing a congestive and oedematous duodenitis with antral gastritis in 1, an ulcerated nodular pangastritis in another, normal in a third patient and a congested duodenum with an ulcer in a fourth. Pathologically, duodenal lymphangiectasia was noted in 3 patients and villous atrophy stage 3b in the fourth patient. After workup, PLE was deemed related to primary intestinal lymphangiectasia in 3 patients, to gastrointestinal tuberculosis in 1 patient, Fontan surgery in 2 patients, coeliac disease in 1, rheumatoid purpura with gastritis in 1 patient and Basedow disease with transient thyrotoxic hepatitis in another. All patients were managed with a high protein, low triglyceride diet. Albumin infusions combined with diuretics were also used in 3 patients. Discussion Clinically PLE is characterized by oedema, as seen in 4 patients, as the predominant initial presentation 6 . Ascites, pleural or pericardial effusion or frank anasarca, is also observed. Oedema may be asymmetrical in some cases, looking clinically like lymphedema 7 . This asymmetry should prompt the consideration of a lymphatic cause of PLE 8 . Macular edema with impaired visual acuity, rarely occurs. Chronic diarrhea, with or without nausea, vomiting and abdominal pain may be seen, as it was in 3 of our patients 9 . These digestive signs dominated the clinical presentation in three patients in our series. Hypocalcemia causing paresthesia, tetany or even seizures may occur in up to one third 10 We noted hypocalcemia in two patients, but none manifested of tetany or seizures. In our series, we noted growth delay in a patient with celiac disease complicated by PLE. The severity of growth retardation correlates with the length and severity of protein loss. Recurrent infections are highly variable in their clinical expression but there is a higher frequency of opportunistic bacterial infections 12 . Viral and parasitic infections are less common 12 . They are related to secondary immunodeficiency due to lymphopenia associated with hypogammaglobulinemia which is highly suggestive of a lymphatic origin of the enteropathy 13,14 . In our series, a prolonged fever with repetitive bronchiolitis type infections, pyoderma and three episodes of pneumonia were the main mode of revealing the PLE in one case. Hypoproteinemia is constant and usually severe less than 40g/l 8,15,16 . With PLE, protein loss is unrelated to molecular weight 17 . Hypogammaglobulinemia is common with a marked decrease in IgG, a moderate decrease in IgM and IgA but not IgE 18 . Hypogammaglobulinemia was observed in seven out of nine patients. Hypo- beta-lipoproteinemia and hypocholesterolemia are suggestive of a lymphatic origin of PLE. Protein losing enteropathy in children - a Tunisian case series A Elleuch 1 , M Feki 1 , L Chtourou 2 , M Loukil 1 , AAbdennadher 1 , L Gargouri 1 , A Mahfoudh 1 1 Department of Pediatric Emergency and Resuscitation, Hospital Hedi Chaker Sfax, Tunisia 2 Department of Gastroenterology, Hospital Hedi Chaker Sfax, Tunisia Correspondence Amal Elleuch email: elleuch_amal@medecinesfax.org