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PAMI syndrome: A rare cause that can be easily misdiagnosed
Xue-Mei Xu1, Hua Huang1, Fei Ding1
1Department of Rheumatology and Immunology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Abstract:
PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome caused by mutations in PSTPIP1 is a rare inflammatory disorder that can be easily misdiagnosed. It is characterized by anemia, arthritis, cutaneous inflammation, recurrent infections, growth failure, hepatosplenomegaly, lymphadenopathy, hyperzincemia/hypercalprotectinemia, neutropenia, thrombocytopenia, and elevated inflammatory indicators. This study describes the cases of two pediatric female patients with long-standing recurrent arthralgia in different parts of the extremities and severe anemia, respectively, who were misdiagnosed and treated for aseptic necrosis of the femoral head and severe autoimmune hemolytic anemia, respectively. High-throughput sequencing analysis revealed a de novo heterozygous missense mutation (c.748G > A, p. Glu250Lys) in exon 11 of PSTPIP1 (NM_003978.5) in both patients, which supported a diagnosis of PAMI. The patients were treated with prednisone and etanercept, which improved their symptoms, but neutropenia remained unchanged. These cases highlight the importance of genetic assessment for the accurate diagnosis of PAMI and to ensure adequate and timely treatment of these patients.
Insights
PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a rare disorder often misdiagnosed. Genetic testing is crucial for accurate PAMI diagnosis and timely treatment, as shown in two pediatric cases.
Area of Science:
- Genetics
- Immunology
- Pediatrics
Background:
- PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a rare autoinflammatory disorder caused by PSTPIP1 mutations.
- It presents with diverse symptoms including anemia, arthritis, and inflammation, leading to frequent misdiagnosis.
Observation:
- Two pediatric female patients presented with prolonged arthralgia and severe anemia, initially misdiagnosed as aseptic necrosis and autoimmune hemolytic anemia.
- High-throughput sequencing identified a novel de novo heterozygous missense mutation (c.748G>A, p.Glu250Lys) in PSTPIP1 in both patients.
Findings:
- The identified PSTPIP1 mutation confirmed the diagnosis of PAMI syndrome in both pediatric patients.
- Treatment with prednisone and etanercept showed symptom improvement, although neutropenia persisted.
Implications:
- These cases underscore the critical role of genetic assessment in diagnosing PAMI syndrome.
- Accurate and timely diagnosis through genetic testing is essential for effective management and treatment of PAMI patients.
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