Dyspnoea – a valuable clue in a rare disease diagnosis

Pulmonary veno-occlusive disease (PVOD) is a rare microvasculopathy associated with dyspnoea, pulmonary arterial hypertension (PAH) and poor prognosis. A 42-year-old female, with a known history of cured thyroid neoplasm, complained of severe inspiratory progressive dyspnoea, chest pain, dry cough and asthenia. The initial investigations established the diagnosis of idiopathic PAH. Specific associated vasodilator treatment was initiated but with sildenafil intolerance. The clinical condition continued deteriorating, and thus the investigations were extended. DLCO was unnaturally low (24%). Angiography detected a minimal left distal CTEPH (not suitable for balloon angioplasty). Genetic test came positive for biallelic mutations of EIF2AK4, suggestive for PVOD. Finally, the diagnostic was changed to PAH in the PVOD context. A decision was made to refer the patient for lung transplant and to associate treprostinil treatment (with slight clinical improvement). Therefore, severe dyspnoea, hypoxia, decreased DLCO and poor response to vasodilator treatment compel physicians to search for PVOD and refer to lung transplant.