Abstract
Background
Haemophagocytic lymphohistiocytosis (HLH) is a rare, life threatening syndrome characterised by severe immune activation. The primary form occurs in early childhood and is fatal without treatment. Secondary HLH can occur at any age, usually in the setting of autoimmune disease, malignancy and infections. Macrophage activation syndrome is a form of HLH occurring in patients with juvenile idiopathic arthritis or other rheumatological conditions. The 2004 paediatric HLH treatment protocol is an established regime of etoposide, dexamethasone and ciclosporin. In recent years, studies have suggested a role for Anakinra in paediatric patients with HLH. We describe our recent experience with Anakinra in adult patients with secondary HLH.
Methods
We performed a retrospective case review study of four adults diagnosed with HLH and treated with anakinra between 2014 and 2018.
Results
Three males and one female with mean age of 35 (18-53) fulfilled the 2004 HLH diagnostic criteria. Three patients had confirmed secondary HLH with the primary trigger being CMV infection, a connective tissue disease (CTD) & T-cell lymphoma and adult-onset Still’s disease. The aetiology of the fourth patient was uncertain although viral infection was likely. Common presenting features were fever, hyperferritinaemia and anaemia. Three patients were neutropaenic and two pancytopaenic. The peak mean ferritin level was 50358µg/L, (10052 - 126808). All patients were treated with anakinra 100mg subcutaneously per day. Ferritin fell rapidly, and at day 7 following treatment, the mean was 3688µg/L (645 - 8957). Three patients achieved initial clinical remission. The first stopped anakinra after 14 days of treatment and has done well, the second has remained on treatment. The third achieved initial clinical remission, stopped anakinra after two months but relapsed and died from atypical pneumonia. The fourth with CTD and T-cell lymphoma had a large drop in ferritin but did not achieve remission and died (Table 1).
Conclusion
HLH is a rare life threatening disorder. Similar to paediatric studies, anakinra appears to reduce ferritin rapidly in adults with secondary HLH. Anakinra may be effective in improving the clinical outcome in adults with non-malignancy associated secondary HLH. However, consistent with previous reports, patients with malignancy associated HLH had a worse survival.
Disclosures
L. Sammut None. S. Murryam None. N. Vincent None. B. Davidson None. C.J. Edwards Honoraria; C.J.E has received support to attend meetings and received honoraria from Amgen.
BG09: A homozygous intronic mutation in
UNC13D
in type 3 familial haemophagocytic lymphohistiocytosis: pathogenic insights regarding subcutaneous panniculitis‐like T‐cell lymphoma