LAUSR

To the Editor, PSTPIP-1-associated myeloid-related proteinemia inflammatory syndrome (PAMI) is a rare autoinflammatory disease that typically presents in childhood, characterized by high serum levels of zinc and the alarmin calprotectin. It is associated with the p.E250K (c.748G>A) or p.E257K (c.769G>A) chargereversal mutations in the PSTPIP1 gene, which encodes Proline-Serine-Threonine Phosphatase Interacting Protein 1 (PSTPIP1) [1]. PAMI is distinct from Pyogenic Arthritis, Pyoderma gangrenosum, and Acne (PAPA) syndrome that arises from different mutations in the same gene. The clinical manifestations of this disease, which include neutropenia, arthritis, and hepatosplenomegaly, often develop in the absence of typical febrile episodes, and therefore pose significant diagnostic challenges, particularly in adults. We describe the 38year diagnostic odyssey of a patient who was diagnosed with multisystem autoimmunity and proteinuria, a novel manifestation of PAMI associated with glomerular calprotectin deposition. A 56-year-old female with diseases in multiple systems was referred for evaluation of a possible unifying diagnosis (see Table 1). She had a seronegative symmetrical deforming non-erosive polyarthritis since the age of 18. Her rheumatologist had unsuccessfully treated her with corticosteroids, sulfasalazine, and methotrexate. Notably, she reported joint swelling following minimal trauma and on one occasion had pus drained from her elbow, which was culturenegative. She was referred to a hepatologist at the age of 43 when she was diagnosed with macronodular cirrhosis, mild portal hypertension (hepatic vein pressure gradient 6 cm), and splenomegaly. Extensive investigations including transjugular liver biopsy did not reveal the underlying cause. She was found to be pancytopenic, with marked neutropenia, and hypogammaglobulinemia. Bone marrow biopsy showed reactive changes and excluded a hematological malignancy. Infusion of intravenous immunoglobulin and subcutaneous injection of G-CSF both resulted in serum sickness. Interestingly, she reported recurrent childhood chest infections which resolved after she developed polyarthritis. Breast reduction surgery at age 48 resulted in postoperative hematoma, poor wound healing, and wound dehiscence. She was found to also have von Willebrand’s