Management of Adult Onset Familial Hemophagocytic Lymphohistiocytosis (FHL): A Dilemma

Background: Perforin gene (PRF1) mutations cause the familial form of hemophagocytic lymphohistiocytosis (HLH). Case presentation: Here, we report a 36-year-old male with familial HLH, who was initially thought to be secondary HLH and was treated accordingly. It is only after a relapse, patient was screened for FHL which revealed perforin deficiency due to previously reported c.694C>T (p.Arg232Cys) mutation. However, till the decision of HSCT could be made, the patient succumbed to the disease. Conclusion: Often, HLH in adults is usually attributed to an infectious etiology without a full genetic workup being undertaken. This not only causes delay in diagnosis, but also adversely affects the management of the patient. It is seen that though in few patients, the onset of HLH is delayed; the outcome remains poor as in classical severe perforin deficiency patients. Hence, it is essential to screen all the patients fitting into HLH criteria irrespective of the age of onset and identify the underlying genetic defect. Even patients with adult onset FHL have a fatal outcome unless treated with HSCT and hence prompt initiation of immunosuppressive and early HSCT is essential for the long term survival.