CHAPLE syndrome

MIM 226 300]

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