An Unusual Association of Interstitial Lung Disease with Pulmonary Arterio-venous Malformation: A Case Report

Abstract

Interstitial Lung Disease (ILD) in diffuse cutaneous Systemic Sclerosis (SSc) patients is present in about 53% of cases and 35% in cases with limited cutaneous SSc. Even though there are only a few case reports of ILD associated with Hereditary Haemorrhagic Telangiectasia (HHT), a direct association of SSc and HHT has not been reported. Hence, little is known about the pathogenetic link between the two diseases. In this case report, a 24 years old married female patient presented with progressive breathlessness for one year. Initial evaluation of the patient suggested the diagnosis of SSc based on clinical findings like sclerodactyly along with telangiectasia. High Resolution Computed Tomography (HRCT) of the chest revealed the presence of pulmonary arteriovenous malformation along with ILD. Past medical history and family history of epistaxis for three generations suggested the diagnosis of HHT. This case reports a rare association of Connective Tissue Disease (CTD) and an autosomal disorder of vascular dysplasia with overlapping features of telangiectasia. This case is presented to highlight the possible association of HHT with CTDs. With the currently available literature, an attempt is made to find a plausible pathogenetic link between HHT and SSc. Transforming Growth Factor-β (TGF-β) is a pleiotropic growth factor that regulates the growth and differentiation of various cell types, and immune regulation has been implicated in the pathogenesis of both HHT and SSc. The other pathogenetic mechanism common to both diseases is impaired nitric oxide-mediated vasodilation. This case report emphasises the need for further research for a better understanding of the pathogenesis of both diseases.

Keywords

• diffuse
• hereditary haemorrhagic
• scleroderma
• telangiectasia
• transforming growth factor beta