Background and Aims

Background: Familiar Mediterranean Fever (FMF) is an autoinflammatory disease inherited with an autosomal recessive pattern and characterized by recurrent episodes of fever with polyserositis or/and arthritis. Colchicine is the first-line drug in treating the disease and preventing the occurrence of secondary amyloidosis. However, 5-10% of patients do not respond to colchicine and are candidates for biologics.

AIm: The purpose of this study was to determine the factors that affect the response to colchicine in pediatric patients with FMF.

Methods

Methods: Articles from the PubMed database were searched without time limitation in the literature. Only studies of English language with pediatric patients were included.

Results

Results: Non-response to treatment has been associated with higher disease activity associated with specific mutations in the MEFV gene (eg M694V / M694V). Environmental factors and co-inflammatory diseases (eg, arthritis) also contribute to the severity of the disease. Other factors are related to the bioavailability of colchicine with emphasis on genetic polymorphisms in the ABCB1 transporter gene (MDR1) and interactions with drugs that inhibit the cytochrome P450 protein as well as the Pgp transporter protein (ABCB1). Finally, non-compliance to treatment should be considered in all patients with poor response.

Conclusions

Conclusions: Given the undesirable effects and the high cost of biological factors, it is crucial to accurately identify those patients who are high risk of not responding to colchicine and to determine the causes of ineffectiveness of treatment in this patient group.

Background and Aims

Intravenous immunoglobulin (IVIG) is recommended for children with primary and secondary antibody deficiencies.
Chylothorax (CL) has been associated with T-lymphocyte loss and hypogammaglobulinaemia. The aim of this systematic review is to summarize the evidence concerning the potential protective role of IVIG in children with chylothorax.

Methods

Medline was systematically inquired using relevant keywords and articles were retrieved for full-text review. Data were collected, analyzed and then summarized in a qualitative analysis in order to examine the evidence of IVIG use in children with CL and its potential beneficial effect on them.

Results

A total of five retrospective, descriptive cohort studies and case series were retrieved; no prospective randomized control trial was identified. Use of IVIG as adjunct to conservative treatment was reported in 29 patients aged 5 days to 5 years. All cases were diagnosed with CL after cardiac surgery. Hypogammaglobulinemia, lymphopenia and septicaemia were the most common indications for IVIG treatment (13/29). IVIG doses varied from 0.1 to 1 gr/kg/day. Administration of IVIG did not prevent recurrent infections or serious complications in the majority of patients (51.7%, 15/29). Blood stream infections were seen after IVIG therapy in 13 cases (44.8%). Mortality was high and affected 24.1% of the treated patients (7/29). Only one study (N: 37) provided comparative data between treated and untreated patients and did not manage to show significant differences in outcome.

Conclusions

Limited evidence exists to support treatment with IVIG in children with CL. Large, well designed prospective studies on IVIG administration are required.