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September 10, 2025Frontiers in Medicine0 citationsOpen Access

Diagnostic Challenges and Treatment Efficacy in PASH Syndrome Linked to MEFV E148Q Variant

Case Report: Diagnostic difficulties, treatment, and association of the MEFV E148Q variant in a patient with PASH syndrome

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Authors

QQQiang QinCCCunwei CaoJLJiarong Liang

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Overview

Case report reveals treatment's effectiveness in PASH syndrome, indicating the role of MEFV variants in diagnosis.

Key Points

  • Adalimumab treatment led to favorable outcomes in a patient with PASH syndrome and the MEFV E148Q variant.
  • Whole-exome sequencing identified the MEFV gene variant (p.E148Q) in a Chinese male patient with severe symptoms.
  • PASH syndrome is often underdiagnosed due to diverse manifestations, complicating timely treatment decisions.
  • Importance of long-term management is emphasized due to disease recurrence linked to medication adherence issues.

Cite This Study

Qin et al. (2025) studied this question.

synapsesocial.com/papers/68c1c63e54b1d3bfb60f24c9https://doi.org/10.3389/fmed.2025.1557540
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