Background Haemophagocytic syndrome is an increasingly-recognised condition in adults, characterised by a wide range of aetiologies, symptoms and outcomes, but with a common aetiopathogenic pathway leading to organ damage: an excessive hyperinflammatory response.
Objectives To analyze the main epidemiological, clinical features, analytical parameters, therapies and outcomes of patients with haemophagocytic syndrome.
Methods In June 2013, the Study Group on Autoimmune Diseases (GEAS) of the Spanish Society of Internal Medicine created the national registry of patients with haemophagocytic syndrome. Patients fulfilled the diagnostic guidelines proposed by the Histiocyte Society in 1991 and updated in 2004.
Results On December 31, 2013, a total of 50 patients with haemophagocytic syndrome were included in the GEAS-SEMI Registry, 31 (62%) men and 19 (38%) women, with a mean age at diagnosis of disease of 49.16 years (range 12-84 years); 18% were not born in Spain. The main signs and symptoms at presentation were fever in 46 (92%) patients, splenomegaly in 34 (68%), hepatomegaly in 27 (54%) and polyadenopathies in 25 (50%) patients.The main organs involved were the lungs in 23 (46%), the kidneys in 15 (30%) and the CNS in 8 (16%). The main analytical markers consisted of severe anemia (mean 7.56 g/L), thrombocytopenia (mean 55436.74/mm3), hypertriglyceridemia (mean 432.89 mg/dL); raised transaminases were found in 40 (80%) patients, raised LDH in 36/48 (75%), and hyponatremia in 30/47 (64%). All patients showed high ferritin serum levels (mean 20392.84, range 413-190544 ng/mL). Tissular hemophagocytosis was confimed in bone marrow smear in 36 (72%) cases, bone marrow biopsy in 10 (20%), liver biopsy in 8 (16%) and other tissues in two. The main associated diseases were infections in 29 (48%) cases, autoimmune/rheumatological in 8 (16%) and hematological neoplasia in 12 (24%). Vital support was required in 28 (56%) patients. Therapies included corticosteroids in 40 patients, etoposide in 12, cyclosporin A in 12, methotrexate in 4, tacrolimus in 2, rituximab in 3, IVIG in 2 and chemotherapy in 5. Death occurred in 26 (52%) patients; the mortality rates according to the baseline disease was 8/12 (67%) in patients with hematological neoplasia, and 16/29 (55%) in those with infectious disease and 1/8 (12%) in those with autoimmune/rheumatic disease.
Conclusions The rate of mortality of adult patients diagnosed with haemophagocytic syndrome exceeds 50% of cases, especially in patients with underlying hematological diseases. An early diagnosis is essential in order to initiate appropriate therapy and improve survival of patients with this challenging condition.
Disclosure of Interest : None declared
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