¹Ikram Shaalan, ¹Bushra Abu Saleh, ¹Khulood Khawaja, ¹Shima Yasin
¹Sheikh Shakhbout Medical City

Purpose Statement: Juvenile idiopathic arthritis (JIA) is the most common type of arthritis in children.  Systemic juvenile idiopathic arthritis (SJIA) is the rare subtype, but carries the highest mortality and morbidity among all are arthritis. This is one of very few cases of this fatal uncomplicated condition of systemic JIA associated lung disease.  We are presenting an 11-year-old male with known SJIA and complicated by lung disease.  He was diagnosed with SJIA at 2 years of age. developed two macrophage activation syndrome.

Method(s): We are presenting an 11-year-old male with known SJIA.  He was diagnosed with SJIA at 2 years of age. He initially presented with prolong fever, skin rash, and arthritis of small joints, bilateral knees, and ankles.  Labs were notable for leukocytosis, thrombocytosis and high inflammatory markers (high ferritin 2200, CRP 185 and ESR 35). He was treated with Naproxen, prednisolone and methotrexate.  With worsening of symptoms and lack of response he was started on Tocilizumab infusion monthly. Initially, showed excellent response with normalization of the serum ferritin and inflammatory markers and he became asymptomatic.  Unfortunately, 3-4 doses after he developed an allergic reaction to Tocilizumab along with worsening of symptoms.  He was switched to L1 blockade (anakinra).

Patient had history of PICU admission with septic shock requiring intubation and mechanical ventilation. His course was complicated by MAS/secondary Hemophagocytic lymphohistiocytosis (HLH).  He had High ferritin level 7000 mcg/L, LDH 622 IU/L, platelet 595, Raised Inflammatory markers (ESR 70 mm/hr & CRP 100 mg/L). At the time, his bone marrow was negative for malignancy.His course with so complicated requiring multiple pediatric intensive care unit admissions, treatment with HLH protocol, with relapsing MAS/S HLH, deep venous thromboses that required anticoagulation, and recurrent serious infections.  Overall, his disease was very difficult to control despite all treatments.

He continued to have active disease and subsequently developed hypoxemia and was eventually diagnosed with severe interstitial lung disease.  His diagnosis was confirmed with chest computerized tomographys (CT) and Bronchoscopy. CT chest showed severe interstitial lung disease and bulky hilar adenopathy. His CT Angiogram showed moderate dilatation of the right ventricle and enlarged pulmonary arteries as well as worsening lung fibrosis. Bronchoscopy consistent with acute or chronic inflammation with componanet of pulmonary hemosiderosis, also it demonstrated lipid laden macrophages with no evidence of aspiration and further labs reassuring for no sarcoidosis. Genetics test shows heterozygous mutation on CCDC40 for PCD, which dose not signify any primary lung disease. Carrier (heterozygous) for HLH very rare mutation category 6. Cardiac catheterization confirmed pulmonary hypertension with severe pulmonary vein desaturation.

His condition progressed despite multidisciplinary team care, he developed extensive lung fibrosis and severe pulmonary hypertension. In addition, he developed systemic hypertension, adrenal insufficiency, short stature, and vertebral compression fractures secondary to long term steroid therapy.

Through the course of his illness he was treated with multiple immunomodulators including:  Child pulse systemic corticosteroids, oral prednisolone, anakinra, cyclophosphamide, Mycophenolate,, and Bactrim prophylaxis.  Currently he is stable and is maintained on:  Ruxolitinib , Canakinumab,   Azithromycin, Bactrim prophylaxis., Ambristan, Sildenafil, Spironolactone ,Amlodipine 0.5mg daily.

For his osteoporosis and vertebral compression fracture he is on Zoledronic acid infusion.

Result(s): systemic JIA child with complicated interstitial lung disease. Through the course of his illness he was treated with multiple immunomodulators including:  pulse systemic corticosteroids, oral prednisolone, anakinra, cyclophosphamide, Mycophenolate, and Bactrim prophylaxis.  Currently he is stable and is maintained on:  Ruxolitinib , Canakinumab,   Azithromycin, Bactrim prophylaxis., Ambristan, Sildenafil, Spironolactone ,Amlodipine 0.5mg daily.

For his osteoporosis and vertebral compression fracture he is on Zoledronic acid infusion.

Conclusion(s): This is 1 of very few cases of this fatal uncomplicated condition of systemic JIA associated lung disease.  Despite all complicated course the patient is currently treated with all standard of care medications and is in stable condition.  Overall, the prognosis for this condition is poor without adequate knowledge of the underlying causes and appropriate treatment course.  Mortality rate in this patient is up to 68%.