AB1069 HYPERZINCAEMIA AND HYPERCALPROTECTINEMIA SYNDROME: MORE THAN JUST AUTOINFLAMMATION?

Abstract

Background: Hyperzincaemia and hypercalprotectinemia (Hand H) syndrome has been described as a new rare entity characterized by recurrent infections, dermatological involvement, increased inflammatory markers, hepa-tosplenomegalia and anemia. Little is known about its heterogeneous presentation, pathophysiology and treatment. Objective(s): To describe three cases with Hand H syndrome Methods: Serum calprotectin (MRP8/14) was measured according to Buehlmann assay (ELISA) and plasmatic zinc by atomic absorption spectrometry Results: Three patients were referred to our centre because an history characterized by recurrent episodes of skin rash, severe oral aphtosis and increased level of serum amyloid A (SAA). Patient 1 presented, since the age of ten years, with recurrent episodes of fever and rash; skin biopsy showed a picture consistent with a lymphocytic lichenoid vasculitis resembling erythema multiforme. Patient 2 presented at birth, with hemolitic anemia and thrombocytopenia. At the age of 5 she was admitted to another hospital due to EBV related hemophagocytic limphohystio-cytosis (HLH). At the age of 8, she was first seen at our center because of a persistent desquamant erythematous rash with recurrent abdominal pain and recurrent arthritis. Intestinal biopsy showed small intestine inflammation (erosions in the digiunum). Patient 3 presented with recurrent episodes of fever, rash, two episodes of transient hip synovitis and muscoloskeletal pain. A bone scintigraphy was performed resulting normal. Patients 1 and 2 suffered from recurrent infections (pneumonia, otitis, skin abscesses). Immunological studies revealed in patient 2 a reduction of memory B cells and a reduced response to Toll like receptor 9 agonist. Of note, all the patients presented in their medical history at least one episode of vasculitis: patients 1 and 3 suffered from Schon-lein-Henoch's purpura at the age of 11 and 3 respectively and patient 2 had at the age of 2 years an undefined vasculitis (evaluated elsewhere). Laboratory tests showed in all patients elevated inflammatory markers, zinchemia and serum calprotectin (table) (Figure Presented) Conclusion(s): We report three patients with high serum levels of calprotec-tinemia and zinch presenting with a clinical phenotype consistent with previously reported cases. The presence of vasculitis in all of the patients suggest that it may represent the first symptom of this condition. Vasculitis could lead to an increase of serum calprotectin already proposed as a marker of vascular impairment. Moreover, considering the immunological defect detected in one of our patient, we speculate that recurrent infections described in this syndrome may underline an immune-dysregulation process in which the role of zinc metabolism needs to be assessed.