A case study, published in the journal Internal Medicine, reviews the development of diffuse pulmonary ossification in a suspected vascular Ehlers-Danlos syndrome (vEDS) patient.

Patients with diffuse pulmonary ossification are frequently asymptomatic and, as such, are diagnosed only after surgical or post-mortem analysis. The condition may be idiopathic (of unknown origin) or secondary to lung, heart, or systemic conditions that affect the entire body, such as EDS.

Mutations in the COL3A1 gene, the most common cause of vascular EDS, results in fragile blood vessels and connective tissues that are prone to spontaneous rupture. The disease is characterized by thin, translucent skin with iron deposits and a high risk of organ damage due to tissue rupture.

The case report describes a 30-year-old man with mild shortness of breath who was referred to a hospital in Japan after a chest X-ray revealed abnormal shadows in his lungs. 

Pulmonary tests found diminished lung function including reductions in diffusion capacity — the ability to transfer oxygen from the air sacs in the lungs to the bloodstream — and oxygen saturation (SpO2) of 88% during the six-minute walking test. Oxygen saturation is the amount of oxygen in the bloodstream, and normal SpO2 is 95% to 100%. Additional chest scans detected shadows and loss of volume in the lungs, as well as small nodules and calcium deposits, suggestive of diffuse pulmonary ossification. 

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