AB0044 Hyper ig-d syndrome treatment with hydroxychloroquine
Authors: M.P. Abi Saab, R.M. Alsmadi
Journal: Annals of the Rheumatic Diseases (2018)

<h3>Background</h3> <b>Hyper IgD syndrome</b> is a minor form of mevalonate kinase deficiency caused by a its gene mutation and considered an auto-inflammatory disease inherited in an autosomal recessive manner, characterised by periodic episodes of fever, arthralgia, lymphadenopathy, skin rash, headaches, and abdominal pain. These attacks can occur spontaneously or be triggered by infections. Treatment options include courses of NSAIDS, steroids, colchicine, statins, I.V immunoglobulin, Cyclosporine, anti-IL-1 agents (anakinra or canakinumab) and anti-TNF antagonist Etanercept, with transient response. To date, there is no report with long term hydroxychloroquine treatment<sup>1–3</sup>. <h3>Objectives</h3> To report a case of Hyper Ig-D syndrome with multiple recurrent episodes and successful treatment using Hydroxychloroquine alone. <h3>Methods</h3> We report a case of 36-year-old female, presented with a first manifestation at age 35 with fever and extended cellulitis of the left arm treated successfully with antibiotic, rapidly followed with urticarial rash involving the upper side of the body, face and upper limbs migratory type lasting less than 24 hours suspecting allergic reaction. She was under supportive treatment (anti-histaminic and low dose steroids) that improved her condition temporarily. She developed multiple recurrent similar episodes for 7 months with high grade fever up to 39°C, inflammatory polyarthralgia affecting small joints, recurrent left elbow erythematous plaque with few subcutaneous nodules, considered as panniculitis type lesion (Picture-1) along with urticarial rash. Series of tests were undertaken along with skin biopsy. <h3>Results</h3> Biopsy of the lesion showed intense deep dermal neutrophil infiltrates. CRP fluctuating between 50 to 95 mg/L during the episodes. Neutropenia (1.7 to 1.9), Normal findings for ANA and SSA antibodies, ACE, Lysozyme enzyme, C3 and C4. Other infectious work-up was negative including Quantiferon God test. Protein electrophoresis found hypergammaglobulinemia. The Ig-D level was 263 mg/L and on another occasion 313 mg/L (normal &lt;153 mg/L), the samples were taken during flare up and after recovery. The patient was treated by Colchicine for more than 3 months without beneficial effect. A trial with hydrochochloroquine 400 mg daily brought a progressive improvement with lesser episodes at 3rd month and no recurrences at 6 months. After one year of therapy the patient was symptomless on a lower dose 200 mg daily with completely normalised inflammatory markers. <h3>Conclusions</h3> We conclude that Hyper Ig-D syndrome can be treated by hydroxychloroquine. This is the first report in the literature conducting this treatment option that can bring attention for further case by case trials. <h3>References</h3> [1] van der Meer JW, Vossen JM, Radl J, van Nieuwkoop JA, Meyer CJ, Lobatto S, van Furth R. Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet1984;1(8386):1087–1090. [2] Drenth JP, Goertz J, Daha MR, van der Meer JW. Immunoglobulin D enhances the release of tumor necrosis factor-alpha, and interleukin-1 beta as well as interleukin-1 receptor antagonist from human mononuclear cells. Immunology. 1996;88(3):355–362. [3] Bodar EJ, Kuijk LM, Drenth JP, van der Meer JW, Simon A, Frenkel J. On-demand anakinra treatment is effective in mevalonate kinase deficiency. Ann Rheum Dis. 2011;70(12):2155–2158. <h3>Acknowledgements</h3> Pathology department. Al Ahli Hospital, Doha, Qatar. Dermatology department. Al Ahli Hospital, Doha, Qatar <h3>Disclosure of Interest</h3> None declared