PReS 2016 Abstract Submission
Vasculitides
PReS-ABS-1617
SEVERE SYSTEMIC VASCULITIS ASSOCIATED WITH PRIMARY IMMUNODEFICIENCY IN TWO SIBLINGS
Mihaela Sparchez* 1, Laura Damian2, Zeno Sparchez3
12nd Department of Paediatrics, Iuliu Hatieganu University of Medicine and Pharmacy, 2Rheumatology Department, Emergency Clinical County Hospital, 33rd Department of Internal Medicine, Iuliu Hatieganu University of Medicine and Pharmacy , Cluj Napoca, Romania
Introduction: In paediatric rheumatology practice, systemic vasculitides associated with primary immunodeficiency disorders are highly challenging conditions.
Objectives:
The aim of this presentation is to report the clinical course and response to treatment in two sisters suffering from systemic vasculitis associated with unclassified
hypogammaglobulinaemia.
Methods:
We retrospectively evaluated the medical records of both sisters.
Results:
The first case was a girl, born from non- consanguineous parents. At the age of 1.66 years old, she suddenly presented high fever, nonspecific maculopapular rash, athralgia, myalgia with elevated levels of acute phase reactants and prompt response to steroids. One year later, the above manifestations relapsed. A skin biopsy showed interstitial granulomatous dermatitis in association with vasculopathy. At 3 years old she developed recurrent cranial nerve palsies and livedo reticularis and then two stroke events at the age of 4 (one ischemic and the other hemorrhagic). Magnetic resonance angiography showed no evidence of cerebral vasculitis and the biopsy of the brain performed as part of the surgical procedure for the hemorrhagic stroke showed only extravasation of erythrocytes and fibrin deposition around small vessels, without significant inflammation. The antibody profile (including antiphospholipid antibodies) and clotting tests were negative. Hypogammaglobulinemia with global Ig deficiency was present from the onset of the disease and persistent in time. She could not be considered common variable immunodeficiency disorder because total serum IgG levels were not constantly reduced below 500 mg/dl. As part of a research study, she was also diagnosed with complete C4B deficiency. At the age of 5 years old she developed moderate thrombocytopenia which persisted for the next 3 years. At 5.5 years old she was also diagnosed with nodular regenerative hyperplasia (NRF) of the liver. For the first 2 years of evolution, only high dose of corticosteroids was able to control the disease manifestations. Methotrexate, azathioprine, cyclosporine, cyclophosphamide were ineffective. Conversely, mycophenolate mofetil (MMF) associated with high monthly doses of IGIV provided prompt and persistent improvement of clinical symptoms and acute phase reactants and also tapering of steroid dose. Till now, under MMF, no recurrences have been observed, but the NRH was slowly progressive. No portal hypertension has been developed so far.
Case 2, the older sister of the above patient, had the first disease manifestations at 6.8 years old. Since then, she developed the following disease features: fever, myalgia, painful subcutaneous nodules, livedo reticularis, low serum IgM and IgG4, elevated acute phase reactants, negative antibody profile, recurrent abdominal pain, systemic arterial hypertension, one episode of massive intestinal bleeding which had no obvious source at total colonoscopy, upper endoscopy and computed tomography angiography. The biopsy of a subcutaneous nodule revealed leukocytoclastic vasculitis. In her case, MMF induced only a partial remission. The association of tacrolimus permitted rapid control of the disease activity. Up to now, no neurological signs were present.
The recently described genetic disorder “deficiency of ADA2” is being considered in both sisters, but yet unproven.
Conclusion:
Aggressive medical management is often necessary and therefore the rate of drug related morbidity in high. The response to the various treatments is variable, even between siblings.
Disclosure of Interest: None Declared