[Familial diffuse interstitial fibrosis of prolonged onset worsening during pregnancy].

Introduction: Familial idiopathic interstitial pulmonary fibrosis is rare. In this case report the diagnosis was confirmed histologically in four members of the same family.

Case Report: A woman whose father and two paternal uncles had developed pulmonary fibrosis was hospitalised from birth on account of delayed growth and dyspnoea. At the age of one year an increase in dyspnoea and the development of hypoxaemia and diffuse interstitial shadowing led to a surgical lung biopsy. The histological diagnosis was idiopathic interstitial fibrosis. Immunosuppressive treatment for one year led to clinical improvement with relief of the hypoxaemia but persistence of the interstitial shadowing. A pneumothorax at the age of 15 required pleurectomy. The clinical state remained stable with a restrictive ventilatory defect up to the age of 26 when respiratory insufficiency developed in the course of pregnancy. The outcome following delivery was severe respiratory failure complicated by pulmonary arterial hypertension leading to death the following year.

Conclusions: This case is distinguished by a histological diagnosis in four members of a family of whom one was an infant, the prolonged stabilisation after immunosuppressive therapy and the possible role of pregnancy in the progression.