What is the prognosis of X-linked lymphoproliferative (XLP) syndrome?

Updated: Jan 27, 2019
  • Author: Karen Seiter, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

The overall mortality of XLP1 has decreased significantly since 1995, from 75 to 29%. This is largely due to improved chemotherapy protocols and stem cell transplantion, as well as improved monitoring and supportive care. [6]  Mortality is most often related to HLH (70%), lymphoma (12%), and complications of transplantation (12%). [13]

The mean age at death for XLP2 has been reported as 16 years with mortality due to HLH (30%), complications of HCT (30%), colitis (23%), liver failure (8%), and pneumonia (8%). However, approximately 43% of patients with XLP2 reach adulthood. Of note, some males with a pathogenic variant in XIAP are asymptomatic and their long-term prognosis is unknown. [13]

Stem cell transplantation has significantly prolonged the survival of these patients. In a report by Booth et al of 43 patients who underwent transplantation compared with 48 patients who did not, survival was 81.4% for transplanted patients compared with 62.5% for untransplanted patients. [5]  Follow-up ranged from 4 to 148 months. Patients with a history of hemophagocytic lymphohistiocytosis had an inferior survival, 50% if transplanted and only 18.8% if not transplanted. The outcome was best for older patients (especially older than 15 years) with a matched sibling donor and no prior history of hemophagocytic lymphohistiocytosis.

Almost a third of patients with XLP1 develop lymphoma, with the most common form being abdominal B cell non-Hodgkin lymphoma in both EBV-positive and EBV-negative patients. Prognosis for those patients has dramatically improved over the decades due to improved  lymphoma chemotherapy protocols. [6]


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