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Updated: Aug 30, 2026
Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
Published on: June 16, 2020
[Familial diffuse interstitial fibrosis of prolonged onset worsening during pregnancy]
A Zanutto1, F Chabot, Y Martinet
1Service des Maladies Respiratoires et Réanimation Respiratoire, Hôpital de Brabois, CHU de Nancy, rue du Morvan, Vandoeuvre-les-Nancy, France.
Insights
Familial idiopathic interstitial pulmonary fibrosis is a rare condition. This case report details a family with four members diagnosed with the disease, highlighting potential genetic links and progression factors.
Area of Science:
- Pulmonology
- Genetics
- Rare Diseases
Background:
- Idiopathic interstitial pulmonary fibrosis (IIPF) is uncommon in familial contexts.
- This case report focuses on a rare instance of IIPF within a single family.
Observation:
- A female patient presented with symptoms from infancy, diagnosed with IIPF via surgical lung biopsy at age one.
- The patient's father and two paternal uncles also had a history of pulmonary fibrosis.
- Pregnancy at age 26 precipitated severe respiratory failure and pulmonary arterial hypertension, leading to death.
Findings:
- Histological confirmation of IIPF in four family members, including an infant.
- Initial stabilization of symptoms with immunosuppressive therapy.
- Pregnancy appeared to accelerate disease progression in the index patient.
Implications:
- Suggests a significant genetic component in this family's IIPF.
- Highlights the potential impact of pregnancy on IIPF progression.
- Underscores the importance of early diagnosis and genetic counseling in familial pulmonary fibrosis.
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.
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