Familial interstitial pulmonary fibrosis in two different families in India: A case series

Abstract

Introduction: Idiopathic pulmonary fibrosis (IPF), a chronic progressive interstitial lung disease (ILD), Occasionally, IPF occurs in families. Familial interstitial lung disease has been reported worldwide, limited information is available on the disease among Indian patients.

Case presentation: A 59-year-old woman presented with a 2-year history of progressive dyspnoea. Based on clinical and radiological features, our patient was diagnosed with idiopathic pulmonary fibrosis. Several family members of her first and second generations had died from respiratory failure. Her sister also diagnosed as IPF based on typical High resolution computed tomography (HRCT) finding though she was asymptomatic and came for screening. In addition, another male patient also had similar history and diagnosed as familial IPF based on HRCT and genetic testing in spite of significant occupational exposure. Genetic study revealed SFTPA1 gene was associated with susceptibility to idiopathic pulmonary fibrosis.

Conclusion: Our report illustrates that asymptomatic screening of family member can uncover such a serious disease in patients with familial interstitial fibrosis. Otherwise, clinical, radiological, and histological features are indistinguishable from those of sporadic cases. Furthermore, our work highlights the importance of compiling a thorough family history in individuals presenting with cough and dyspnoea, particularly in younger patients identified with idiopathic pulmonary fibrosis.

Figure 1

Pedigree of family 1 evaluated for FIPF with four affected members. Dark shading indicates the affected family members

Figure 2

Case 1 - (a) High-resolution computed tomography scan obtained at the upper lobe shows reticular opacities and honeycombing. (b) High-resolution computed tomography scan from the basal parts of the lungs showing reticulations and traction bronchiectasis

Figure 3

Case 2 - (a) High-resolution computed tomography scan obtained at the upper lobe shows reticular opacities and honeycombing. (b) High-resolution computed tomography scan prone cuts from the basal parts of the lungs showing reticular and nodular densities, and traction bronchiectasis

Figure 4

Pedigree of family 2 evaluated for FIPF with five affected members. Dark shading indicates the affected family members

Figure 5

Case 3 - (a) High-resolution computed tomography scan obtained at the upper lobe shows reticular opacities, ground-glass attenuation and honeycombing. (b) High-resolution computed tomography scan from the basal parts of the lungs showing ground-glass attenuation, reticular and nodular densities, and traction bronchiectasis