A Diagnostic Challenge: Recurrent Uveitis Leading to the Diagnosis of Hyper-IgD Syndrome in a 28-Year-Old Patient.

INTRODUCTION

Mevalonate Kinase Deficiency (MKD), which includes the clinical phenotype known as Hyperim munoglobulin D Syndrome (HIDS), is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene. While typically characterized by childhood-onset recurrent febrile episodes and systemic symptoms like lymphadenopathy and abdominal pain, ocular involvement is usually limited to conjunctivitis. Uveitis is a rare manifestation, often associated with more severe forms of the disease.

CASE PRESENTATION: This report describes a 28-year-old male who presented with bilateral, recurrent anterior uveitis and vitritis. Although the patient reported self-limiting febrile episodes during childhood, the presentation of ocular inflammation in adulthood as the primary symptom posed a significant diagnostic challenge. Initial treatment with topical and systemic corticosteroids provided only temporary relief, with the patient developing cystoid macular edema and further recurrences. A multidisciplinary evaluation and genetic testing confirmed the diagnosis of HIDS. Following the diagnosis, the patient was started on targeted anti-IL-1 therapy (anakinra or canakinumab). This intervention led to a significant improvement in symptoms and was essential in halting recurrences and preventing chronic ocular damage.

CONCLUSION

Recurrent uveitis, even in adult patients, should prompt the investigation of rare autoinflammatory syndromes. A timely genetic diagnosis and a multidisciplinary approach are crucial for initiating targeted biological treatments, which offer a superior visual and systemic prognosis compared to conventional therapies.