Clinical Case for Residents (VII)-24-year-old man with fever, livedoid skin lesions, hypertension and transient neurological deficit

Abstract

This document is part of the Clinical Cases for Residents collection, a teaching project aimed at postgraduate training in Rheumatology and also applicable to other medical specialties involved in the management of systemic diseases. Its purpose is to strengthen clinical reasoning skills, syndromic analysis, and the structured development of differential diagnoses in complex clinical scenarios.

The case presents a comprehensive evaluation of a young adult patient with recurrent fever, livedoid skin lesions, arthralgia, arterial hypertension, and a transient neurological deficit, raising suspicion of systemic vasculopathy. The diagnostic discussion focuses on the differential diagnosis of medium-vessel vasculitis in young adults, including polyarteritis nodosa, antiphospholipid syndrome, systemic autoimmune diseases, and monogenic autoinflammatory vasculopathies. Particular emphasis is placed on deficiency of adenosine deaminase 2 (DADA2), a rare genetic disorder that may mimic polyarteritis nodosa and is characterized by systemic inflammation, vasculopathy, and early cerebrovascular involvement.

The document provides key elements for clinical interpretation, relevant complementary tests such as ADA2 enzymatic activity and genetic testing, and the pathophysiological basis of the disease.

The case is designed as a teaching tool for medical residents, with activities focused on group work, guided discussion, and the integration of clinical, analytical, and imaging findings. It forms part of a collection intended to reinforce advanced competencies in differential diagnosis, integrative clinical analysis, and evidence-based decision-making in real-world clinical practice.