Definition and clinical description
Symptoms and prevalence
The patient presents with diarrhoea due to exudative enteropathy (hypoalbuminaemia, oedema), lymphopaenia and hypogammaglobulinaemia mimicking severe combined immunodeficiency. This disease may be accompanied by other digestive signs (abdominal pain, vomiting) and delayed development.
This is a rare disease, with fewer than 500 cases recorded worldwide.
Diagnosis is based on a duodenal biopsy which visualizes lymphangiectasia (malformation of the lymphatic vessels inside the intestinal mucosa). Extra-digestive damage should be investigated: lymphoedema of the limbs, bone damage (by skeletal radiographs) and skin, pleuropericardial evidence of multitissue lymphopathy. Cardiac ultrasound must be performed to ensure that lympyhangiectasia is primary and not secondary to cardiac involvement.
Management and treatment
Therapeutic management is based on a fat-free diet, combined with lipid infusions with fat-soluble vitamins. Depending on the digestive losses and the extent of oedema and hypoalbuminaemia, infusions of albumin and intravenous immunoglobulins may be appropriate.
The recommended diet is low in fat and enriched in medium chain triglycerides.