X-linked agammaglobulinemia (XLA) is characterized by hypogammaglobulinemia and absent B cells resulting from defects in Bruton’s Tyrosine kinase (BTK). Despite immunoglobulin replacement, patients experience consequences of immune dysregulation including nodular regenerative hyperplasia (NRH) of the liver and malignancy. We describe a case of metastatic hepatic angiosarcoma in a patient with XLA consented to an IRB-approved NIH protocol, 93-I-0119.
Retrospective chart review.
30-year-old male with XLA developed thrombocytopenia and abdominal ascites. A transjugular liver biopsy confirmed NRH and elevated portal pressures. Screening MRI of the liver discovered innumerable suspicious hyperintensities. Biopsy revealed atypical vascular proliferation concerning for angiosarcoma. Interval MRI showed multiple arterial enhancing lesions throughout the liver and osseous enhancement consistent with metastatic disease. Paclitaxel chemotherapy was complicated by neutropenia, fever, pulmonary consolidation and an occipital brain lesion concerning for invasive aspergillosis. Despite antifungal therapy and aspergilloma resection, the patient developed a right parietal hematoma with progressive midline shift resulting in herniation. He was placed on comfort measures and expired shortly thereafter.
XLA has been associated with increased risk of hematologic and solid organ malignancy. NRH of the liver, common to many immune dysregulation disorders, may lead to the development of hepatic malignancies. Angiosarcoma is a high-grade vascular neoplasm that presents with abdominal pain, ascites, hepatomegaly, and thrombocytopenia. Metastases commonly occur lending to poor prognosis often resulting from liver failure or intraperitoneal hemorrhage. Unfortunately, beyond surgical resection, no standard chemotherapeutic regimen exists. This case highlights the importance of prompt diagnosis and therapy in patients with underlying immunodeficiency and dysregulation.