TÍTULO

THE CHALLENGE IN TREATING SCLERITIS IN OVERLAPPING IMMUNE MEDIATED DISEASES: A SUPPOSED IPLEX LIKE SYNDROME OF THE ADULT.

OBJETIVO

This report aims to describe a case of a female patient who developed in her adult life an autoimmune intolerance refractory to several immunomodulatory treatments and that, during steroid therapy and interleukin inhibitor 6 (Tocilizumabe) presented a diffuse, painful and unilateral scleritis refractory to intravenous cyclophosphamide responsive to therapy with oral cyclophosphamide.

RELATO DO CASO

A forty-five years old female patient, previously diagnosed with specifics autoimmune diseases: type 1 diabetes mellitus of late onset, with antibodies against glutamic acid decarboxylase (anti-GAD), Hashimoto's thyroiditis, with Anti-thyroid peroxidase antibody, and Pernicious Anaemia developed 2 years ago a sudden bilateral sensorineural deafness with severe hearing loss. In the absence of other symptoms and apparent clinical stabilization, reverberated with intense pain and swelling in right ear saving the lobe and high dysphagia (laryngotracheitis), tendinitis and perichondritis, when received Relapsing Polycondritis (RP) diagnosis. Restarted oral prednisone at a dose of 0.75 mg / kg and introduced Tocilizumabe therapy. She developed an intense scleritis in the left eye. Because of the severity of the eye disease, it was prescribed intravenous pulse therapy with methylprednisolone 1g for 3 days and in the absence of improvement, immediately started intravenous cyclophosphamide at a dose of 0.5 mg / kg every 15 days with partial response. It was decided to replace to oral cyclophosphamide at a dose of 1.5 mg / kg / associated with prednisone 1 mg / kg /, with resolution of scleritis and others clinical aspects related to RP.

CONCLUSÃO

Overlapping immune-mediated diseases described suggest alterations in the immune tolerance system that increased demand investigations, these hampered by limited resources. The commitment of the endocrine, enteric and haematological systems leads us to syndrome IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome), this time even superimposed by relapsing polychondritis in an adult, both atypical manifestations. Some reports suport the theory of an uncommon genetic penetration or even a gene FoxP3 mutation.
The apparent response to cyclophosphamide in controlling the disease suggests a predominance of inflammatory T cells involved in the case. Wonders whether this case it's a rare coincidence of multiple immune entities overlapping or a variant of IPEX syndrome.

Palavras Chave

IPEX LIKE Syndrome; Kikushi-Fujimoto Disease; Hashimoto Thyroiditis; Pernicious Aenemia; Relapsing Polichondrytis; Scleritis.