Genetic Testing Unveils a Novel Thrombospondin‐1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79‐Year‐Old Woman

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Abstract
Edema requires management tailored to its underlying etiology; however, in some cases the cause remains elusive. We describe a 79‐year‐old woman with lifelong unexplained peripheral edema. Comprehensive evaluation excluded common etiologies such as heart failure, renal dysfunction, and venous thrombosis. Whole‐genome sequencing identified a novel homozygous splice‐site variant (NM_018676.4:c.58+2T>G) in the thrombospondin‐1 domain–containing protein 1 ( THSD1 ) gene, which has previously been associated with non‐immune hydrops fetalis (NIHF). This report describes, to our knowledge, the first elderly patient with chronic peripheral edema harboring a likely pathogenic THSD1 variant, suggesting that THSD1‐related disease may, in rare instances, persist beyond the perinatal period and present into late adulthood. Although causality cannot be established definitively from a single case, the findings highlight the potential utility of genetic testing in adults with chronic unexplained edema.
Funding Information
  • Astellas Pharma

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