Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion.
Irene Bruno, Luisa De Sanctis, Nadia Edvige Foligno et al.
✦ AI-curated · Sources linked
Case in brief
This expert-opinion article discusses ENPP1 deficiency, a genetic disorder caused by loss-of-function mutations and associated with low circulating inorganic pyrophosphate, bone hypomineralization, soft-tissue calcification, and arterial stenosis. Its clinical spectrum includes generalized arterial calcification of infancy type 1 (GACI1) and autosomal recessive hypophosphatemic rickets type 2 (ARHR2). Seven Italian specialists reviewed five real-world cases and considered approaches to diagnosis and management. They emphasize recognizing clinical signs, using comprehensive diagnostic and follow-up testing, and maintaining consistent follow-up to help prevent complications and adverse outcomes.
What made this case unusual
The article brings together five clinical cases to illustrate the differing phenotypes of ENPP1 deficiency, spanning infantile arterial calcification and hypophosphatemic rickets.
Diagnostic / clinical pearl
Consider ENPP1 deficiency across both GACI1 and ARHR2 presentations; early recognition and comprehensive diagnostic assessment are central to management.
Why it matters
The disorder is associated with lifelong physical and emotional burden, while treatment options remain limited and novel therapies are under clinical development.