TY - JOUR T1 - Thirty Years of Followup in 3 Patients with Familial Polyarteritis Nodosa due to Adenosine Deaminase 2 Deficiency JF - The Journal of Rheumatology JO - J Rheumatol SP - 1059 LP - 1060 DO - 10.3899/jrheum.180820 VL - 46 IS - 8 AU - JASON LIEBOWITZ AU - DAVID B. HELLMANN AU - OSKAR SCHNAPPAUF Y1 - 2019/08/01 UR - http://www.jrheum.org/content/46/8/1059.abstract N2 - Three sisters of Northern European descent provided an opportunity to examine the longterm course and possible familial aspects of a rare disease, polyarteritis nodosa (PAN). Approval and consent was obtained from each patient.The sisters have been cared for in the Johns Hopkins Vasculitis Center for the past 3 decades. At age 7, the first sister developed rash, fever, lethargy, and a deviated right eye and was treated empirically for tuberculosis. At age 8, these symptoms recurred along with abdominal pain, hypertension, and stroke. Renal angiography demonstrated microaneurysms and a skin biopsy confirmed the diagnosis of PAN. She was initiated on prednisone and azathioprine (AZA). Within the following year, she developed 2 bowel perforations with pathology demonstrating PAN and was treated with cyclophosphamide (CYC). By age 17, methotrexate was added for abdominal pain in the context of worsening mesenteric angiography. At age 19, she developed mononeuritis multiplex, and acute abdominal pain led to discovery of a ruptured renal aneurysm and upper gastrointestinal (GI) bleed, necessitating gastrectomy. She was treated with prednisone, CYC, and total parenteral nutrition. From ages 19 to 25 years, she had 8 hospitalizations for abdominal angina and GI bleeding and 1 for stroke. Angiography during this period showed 95–99% stenosis of the celiac artery and diffuse changes of PAN in the superior and inferior mesenteric arteries as well as active skin lesions. … Address correspondence to Dr. J. Liebowitz, Johns Hopkins University, Division of Rheumatology, 5200 Eastern Ave., MFL Bldg., Center Tower, Suite 4100, Baltimore, Maryland 21224, USA. E-mail: jliebow3{at}jhmi.edu ER -