CHAPLE syndrome
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Acronym for CD55 deficiency with Hyperactivation of complement, Angiopathic thrombosis, and Protein-Losing Enteropathy
(Hyperactivation of complement - thrombosis - protein-losing enteropathy)
Very rare: < 100 cases described. Autosomal recessive inheritance of a loss-of-function mutation in the CD55 gene (1q32.2) resulting in a deficiency of CD55, which regulates complement activation by inactivating C3 and C5 convertases. There is therefore a status of chronic hyperactivation of complement.
It is associated with
- diarrhea and abdominal pain
- primary intestinal lymphangiectasis (Waldmann's disease)
- exudative enteropathy with anemia and multiple deficiencies (iron, vitamins including B12 and D)
- hypoproteinemia with hypoalbuminemia and peripheral and facial edema, and sometimes hypogammaglobulinemia
- angiopathy accompanied by thrombotic events
- growth retardation
Occasionally: recurrent pulmonary infections, hypothyroidism.
Experimental treatment: eculizumab or pozélimab (reduce production of factor C5a).
Anesthetic implications:
check plasma albumin and protein levels, hemoglobin, iron and ferritin.
References :
- Ozen A, Comrie WA, Ardy RC, Dominguez Conde C, Dalgic B, Beser OF, Morawski AR et al.
CD55 Deficiency, early-onset protein-losing enteropathy, and Thrombosis.
N Engl J Med 2017;377:52-61.
Updated: May 2025