PP20. Bruising, bleeding and recurrent compartment syndrome: a case of Gardner–Diamond syndrome (autoerythrocyte sensitization syndrome)?

Abstract

Background: Children are occasionally referred to Paediatric Rheumatology because of bruising or purpura. The differential includes vasculitides and Ehlers Danlos syndrome (EDS) as well as haematological disorders and non-accidental injury. Aims: To describe the case of a girl who presented with bruising and bleeding leading to recurrent compartment syndrome requiring fasciotomies. Methods: A 12-year-old girl was referred with a history of spontaneous bruising over her right upper arm. Over the following days she developed progressive right hand swelling and pain resulting from compartment syndrome which required a fasciotomy. She also appeared to develop bruises on her arms after sphygmomanometry and haematuria after abdominal US. Medical history included regional pain syndrome following a right arm injury in a road traffic accident several months before this presentation. Examination showed bruising on both arms and mild knee hypermobility. ANA was positive at low titre. Full blood count and film, extended clotting and platelet aggregation studies, inflammatory markers, dsDNA, ENA, ANCA, complement, aPL antibodies and viral serology were all normal. Magnetic resonance angiography of abdominal aorta, mesenteric and renal arteries was normal. An initial skin biopsy showed minimal inflammation around capillaries but no evidence of vasculitis. Repeat skin biopsy sent for electron microscopy and fibroblast culture, together with DNA for COL3A1 mutations, did not support a diagnosis of vascular EDS [1]. Results: During 3 months following initial presentation, she had seven further fasciotomies for episodes of compartment syndrome affecting the forearms and lower legs. On some occasions, the girl described feeling a pop in a limb followed within minutes by pain and swelling. She was empirically treated with s.c. DDAVP at the start of subsequent episodes. She has continued once-weekly DDAVP and has had no significant bleeding/bruising in the last 5 months' follow-up. Gardner-Diamond syndrome (GDS) was postulated after exclusion of other diagnoses. Also called autoerythrocyte sensitization syndrome, GDS is an autoimmune vasculopathy with sensitization to phosphotidylserine in erythrocyte cell membranes [2]. In most cases, the disease develops after psychological stress and is characterized by painful oedematous skin lesions progressing to ecchymoses within 24 h. Cases of GDS in adolescent females and associated with complex regional pain syndrome have been described. The diagnosis is usually based on typical history and positive tests with intracutaneous injections of 80% solution of washed autologous erythrocytes. No effective treatments have been identified. Conclusion: GDS should be considered in the differential diagnosis of bruising/purpura after excluding haematological and collagen vascular disorders, vasculitides and non-accidental injury.