Idiopathic Pulmonary Fibrosis in A Young Patient with Strong Family Background

Abstract

Background: Idiopathic pulmonary fibrosis (IPF) is the most common form of interstitial lung disease. It’s a chronic, progressive and often fatal disease. The etiology, pathophysiology and predisposing factors of IPF are still not fully understood. Genetic mutations leading to the disease are sometimes among the underlying predisposing factors leading to the entity known as familial pulmonary fibrosis (FPF). FPF is a rare entity and often overlooked. Not much data is available on the subject in the literature. For that reason, it’s important to increase awareness about this disease. Case presentation: In the following article, we report the case of a young patient presenting with a fibrosing lung disease that turns out being a familial pulmonary fibrosis. This case report goes over the challenges faced with the diagnosis, the approach for treatment and the genetic counseling in FPF. Conclusion: FPF is a rare disease with potential severe consequences for the patient. A high level of suspicions is required when making the diagnosis and potential genetic testing of family members might be required.