Hypertrophic pachymeningitis and aortitis as manifestations of immunoglobulin G4-related disease, successfully treated with rituximab: case report

Cilj: Prikazati pacijenta s bolesti povezanom s imunoglobulinom G4 (engl. immunoglobulin G4-related disease; IgG4-RD) te dijagnostičke izazove vezane uz ovu bolest, kao i terapijske mogućnosti s naglaskom na liječenje rituksimabom. Prikaz slučaja: Šezdesetogodišnji pacijent primljen je na hospitalnu obradu nakon pregleda u gastroenterološkoj ambulanti u koju je zaprimljen zbog neredovite stolice, slabosti i gubitka 20 kg unutar dva mjeseca. U statusu je ustanovljena lezija desnog ličnog živca, ptoza, lagoftalmus i otežano gutanje. Obradom su potvrđene lezije desnog oculomotoriusa, facialisa i trigeminusa, a otorinolaringološkim pregledom utvrđena je pareza desne glasnice. Laboratorijski nalazi pokazali su anemiju i povišene upalne pokazatelje. Ultrazvukom otkrivena lezija jetre definirana je kao hemangiom. Kompjutorizirana tomografija (engl. computed tomography; CT) i magnetska rezonancija (MR) mozga pokazale su hipertrofični pahimeningitis u području srednje i stražnje lubanjske jame, uz desni tentorij, kavernozni sinus, Meckelovu jamu i gornju orbitalnu fisuru. CT aortografija pokazala je aortitis infrarenalne aorte. Serumska razina IgG4 protutijela bila je povišena te su zadovoljeni kriteriji za moguću dijagnozu IgG4-RD i započeta je terapija metilprednizolonom. Iduće je godine ponovno hospitaliziran radi reevaluacije bolesti. MR mozga pokazao je dobru regresiju hipertrofičnog tkiva dure, ali CT aortografija nepotpunu regresiju bolesti te su upalni pokazatelji i dalje bili visoki. Uvedena je terapija rituksimabom koja je dovela do remisije. Zaključak: IgG4-RD je rijetka i složena bolest koja često oponaša druge i predstavlja velik dijagnostički izazov, stoga bi poznavanje ove bolesti uvelike pridonijelo njezinom ranom otkrivanju i boljim terapijskim ishodima. Iako su glukokortikoidi standardna terapija, često ne daju željene rezultate, a inovativna terapija rituksimabom pokazuje odličnu učinkovitost.Aim: To present a patient with immunoglobulin G4-related disease (IgG4-RD), diagnostic challenges associated with it and therapeutic options with emphasis on rituximab treatment. Case report: A 60-year-old patient was admitted for hospital treatment after an examination at the gastroenterology clinic he was admitted to due to irregular stools, weakness and loss of 20 kg within two months. The patient had a lesion of the right facial nerve, ptosis, lagophthalmos and difficult swallowing. The examination confirmed lesions of the right oculomotor, facial and trigeminal nerve, and paresis of the right vocal cord. Laboratory findings showed anemia and elevated inflammatory markers. An ultrasound-detected liver lesion was defined as hemangioma. Computed tomography (CT) and magnetic resonance imaging (MRI) of the brain showed hypertrophic pachymeningitis in the middle and posterior cranial fossa, along with the right tentorium, cavernous sinus, Meckel’s pit, and upper orbital fissure. CT aortography showed infrarenal aortitis. Serum IgG4 antibody levels were elevated, IgG4-RD criteria were met and methylprednisolone therapy was initiated. The following year he was re-hospitalized for reevaluation of the disease, MRI of the brain showed regression of hypertrophic dura tissue, but CT-aortography incomplete regression of the disease and inflammatory parameters were still high. Rituximab treatment was introduced which led to remission. Conclusion: IgG4-RD is a rare and complex disease that often mimics others and presents a major diagnostic challenge, so the knowledge of this disease would contribute to its early detection and better therapeutic outcomes. Although glucocorticoids are standard therapy, they often do not give the desired results, and rituximab treatment shows excellent efficacy