Look granulomatosis with polyangiitis (GPA) straight in the face: missed opportunities leading to a delayed diagnosis

Autoimmunity Highlights 10, Article number: 8 (2019) | Download Citation

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Abstract

Granulomatosis with polyangiitis (GPA) is a systemic vasculitis with a potential to involve any organ system. It remains an important cause of kidney related morbidity and mortality. Early diagnosis can be difficult and requires high index of suspicion in all patients, but especially in cases with atypical presentation. We report a case with GPA, which was diagnosed only after new and advancing symptoms belied the original diagnosis of bilateral facial palsy and aortic mural thrombus.

Introduction

Granulomatosis with polyangiitis (GPA) is a rare disease with annual incidence of 5 to 10 cases per million [1]. The initial phenotypic expression of GPA exhibits considerable variability, which often goes beyond the site of onset, degrees of involvement of different systems, and rate of progression. GPA is labeled as one of the great masqueraders in medicine, because it may present with protean symptoms requiring a broad differential diagnosis. The pre-diagnostic period of GPA may last from a few months to many years [2]. Due to involvement of multiple organ systems, it is not uncommon for patients to seek help from a variety of clinician specialists [3]. Making the correct diagnosis is even more challenging when the presenting symptoms may not fit the classic picture of the disease. In such cases, the diagnostic delay increases the risk of disease progression, organ failure, or even death.

We report a case of GPA in a 65-year-old immunocompetent man, who presented with progressive bilateral facial palsy and a mural thrombus in the thoracic and abdominal aorta. Initially, these clinical manifestations could not be attributed to any particular etiology. This unusual clinical presentation illustrates the need for increased awareness of vasculitis for early diagnosis and timely treatment of this life-threatening condition.