Challenging diagnosis of Rendu — Osler — Weber disease detected in a pregnant woman with hemoptysis

We are presenting the review of scientific publications and the clinical case of Rendu — Osler — Weber disease which is a rare disorder tending to complicate with lung hemorrhage. The disease was primarily found in a pregnant woman. The disease develops pulmonary (as well as cerebral and visceral) arteriovenous malformations which leads to right-to-left blood shunt. Pregnancy may promote the progressive growth of arteriovenous malformations with potential life-threatening complications.
The clue to the proper diagnosis in the case presented was the dissociation of clinical and X-ray manifestations of the disease — the persistent refractory decrease of blood oxygenation with no X-ray findings of the lung parenchyma affected. The typical telangiectasia was found on the oral mucosa by purposeful searching. Moreover, the patient had passed through thrombotic cerebral accident at a young age which might be an early manifestation of Rendu — Osler — Weber disease while remained unrecognized.
We showed the critical role of the computed tomography angiography for the differential diagnosis of the diseases manifesting with hemoptysis.
The diagnosis in the case presented was yet more challenging as Rendu — Osler — Weber disease manifested with pulmonary bleeding on the background of the using of anticoagulants due to concomitant thrombophilia. Whereas the disease combination severely increased the risk of both hemorrhagic and thrombotic complications the preterm abdominal delivery followed by embolization of the pulmonary malformations was successfully applied to the patient.

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