Case History of Colchincine Therapy

[305] A FAVORABLE RESPONSE TO COLCHICINE THERAPY IN NEONATAL ONSET MULTISYSTEM INFLAMMATORY DISORDER (NOMID/CINCA).

 Robert C Fuhlbrigge. Boston, MA.

 Monday, October 30, 2000, 12:30 PM, Exhibit Hall

NOMID (AKA CINCA; Chronic Infantile Neurologic, Cutaneous and Articular Syndrome) is a rare pervasive inflammatory disorder of unclear etiology. Affected individuals present at birth with rash and hepatosplenomegaly and continue with variable fever, rash, adenopathy, aseptic meningitis and inflammatory changes in multiple organ systems. Growth failure, mental retardation and a severe deforming arthropathy are common. Biologic disease markers primarily reflect the course of unrelenting inflammation, including anemia, leukocytosis, thrombocytosis, elevated ESR and acute phase reactants, and hypergammaglobulinemia. Autoimmune markers, including ANA and rheumatoid factor, are typically negative. Case reports document the high morbidity and mortality associated with this disorder and characterize a distinct lack of response to standard anti-inflammatory and immunosuppressive regimens. K.D. is a 4-year old female who presented at 11 months of age with typical features of NOMID, which have included urticarial rash since birth, frequent fevers, aseptic meningitis, frontal bossing, sensorineural hearing loss, myositis, growth failure (now 50%ile for a 12 month old), developmental delay and a proximal tibial epiphyseal dysplasia. Immunosuppressive therapy, including weekly pulse IV methylprednisolone (30 mg/kg), methotrexate (1 mg/kg) and daily oral steroid, was not successful in halting disease progression. Addition of colchicine was accompanied by a marked reduction in fever, ESR and acute phase reactants, resolution of anemia and reduced thrombocytosis, reduced limb pain and improved growth (height and weight gain). Improved disease control has been maintained for >6 months despite a >50% decrease in steroid and methotrexate doses. Rash and progression of hearing loss have persisted. Current medications include weekly oral pulse prednisolone (10 mg/kg) and weekly s.c. methotrexate (0.5 mg/kg) accompanied by daily oral prednisolone (0.25-0.6 mg/kg/d) and daily colchicine (0.6 mg). This response, coupled with a favorable safety profile, suggests colchicine may be an effective adjunct in the therapy of this otherwise unremmitting inflammatory disorder and should support consideration of its use in other patients with NOMID.

Keywords: Neonatal Onset Multisystem Inflammatory Disorder (NOMID); Pediatric Rheumatology; Colchicine