No abstract

Immunoglobulin G4-related disease (IgG4-RD) is a recently described entity with protean manifestations. We describe a novel case of IgG4-RD with hypergammaglobulinemic hyperviscosity responsive to fludarabine and rituximab. A 33-year-old Asian man developed bilateral lacrimal gland and submandibular salivary gland swelling with cervical lymphadenopathy. Biopsies of the affected tissues revealed reactive follicular hyperplasia. Seven years later, he presented with bilateral retinal hemorrhages due to hyperviscosity syndrome from profound polyclonal increase in IgG, including marked IgG4 elevation. Despite plasmapheresis, overproduction of IgG continued and he was refractory to systemic steroids, azathioprine, interferon alpha, and cyclophosphamide. IgG4-RD was suspected following a myocardial infarction and detection of aneurysmal coronary arteries indicating large vessel vasculitis. Review of the cervical lymph node and lacrimal gland biopsies with immunohistochemical staining for IgG4-positive plasma cells confirmed IgG4-RD. B-cell depletion with rituximab produced a partial response, but clinical symptoms and elevated protein levels persisted. Fludarabine was added to rituximab to suppress T-cell activity, and this resulted in an excellent clinical and biochemical response. Combination therapy with fludarabine and rituximab in IgG4-RD has not previously been reported and can be considered in patients with severe refractory disease.

A discharging eyelid fistula may indicate occult sinus disease, which can remain undiagnosed for long periods. There is typically a history of recurrent upper lid erythema and swelling, with spontaneous drainage through a fistula sited in the supero-medial eyelid sulcus; local features include contracture and thickening of the skin and underlying tissues around the fistula.

We present a case of an enlarged medial rectus from mucosal associated lymphoid tissue (MALT) lymphoma that was misdiagnosed as thyroid orbitopathy for over 3 years. Extraocular muscles are most commonly associated with thyroid orbitopathy (TO), however, it is important to remember that they may also be manifestations of other conditions.