Genital Dirofilaria: A Comprehensive Review of Clinical Presentations, Diagnosis and Management

Abstract Introduction Human dirofilariasis, an emerging mosquito-borne zoonosis, is increasing, particularly in Europe. While subcutaneous presentations are the most common infections, genital presentations are rare and can pose significant diagnostic challenges. Purpose This review aims to provide an updated synthesis of all detailed published cases of genital dirofilariasis analyzing clinical characteristics, diagnostic methods, treatment strategies, and epidemiological implications to enhance clinical awareness and management. Methods A comprehensive literature review was conducted to identify cases of Dirofilaria species with genital involvement in databases such as PubMed, Scopus, Web of Science and Google Scholar and through manual searches. Results Genital dirofilariasis is a rare condition, with 70 detailed documented cases identified in this review, representing the largest collection published to date. Dirofilaria repens is the predominant cause. Clinical presentation is often non-specific mimicking common or threatening conditions such as orchiepididymitis, spermatic cord torsion or undiagnosed nodule. The condition affects all ages, with a notable 40% of cases occurring in the pediatric population, particularly in Sri Lanka. Definitive diagnosis typically requires surgical excision and expert histopathological examination, supported by molecular techniques for species identification, if available and certificated. Imaging, mainly ultrasound, may reveal the highly suggestive “worm-in-sac sign”. Minimally invasive excisional surgery is generally curative and post-operative antiparasitic therapy is usually not required after complete excision. Conclusions Genital dirofilariasis should be included in the differential diagnosis of unexplained genital nodules or masses, especially in endemic areas or in patients with a history of travel to such regions. The diagnostic and therapeutic approach proposed here helps in identifying and managing these peculiar parasitic infections. A multidisciplinary approach is essential to avoid misdiagnosis and inappropriate invasive interventions.