Rafika, Nuva and Harsojo, Harsojo and Faradz, Sultana MH and Hagerman, Randi (2013) ANTINUCLEAR ANTIBODIES IN FRAGILE X SYNDROME PATIENTS TREATED WITH AND WITHOUT MINOCYCLINE. Masters thesis, Universitas Diponegoro.

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Abstract

Background: Minocycline is a targeted treatment for fragile X syndrome (FXS) as it inhibits matrix metalloproteinase-9 (MMP-9) that is upregulated in FXS. Minocycline side effects may also cause autoimmune symptoms that may be detected with positive antinuclear antibodies (ANA) titers. The study investigates the prevalence of positive ANA titers in individuals with FXS who have been treated with and without minocycline.

Methods: ANA titers of patient with FXS who are on minocycline and without minocycline were collected. ANA positivity was compared to variables including age, sex (male and female), full scale IQ, autism diagnosis (autism, ASD and no autism), molecular data (full and mosaic), and concomitant medications (may cause DIL or not causing DIL) in patients with and without minocycline. Duration and dosage in patients with minocycline were also examined. Titers and patterns commonly seen in this population are observed.

Results: From a total of 48 patients on minocycline, 27.08% had ANA positivity (titers ≥ 1:80). While 23 patients without minocycline had ANA positivity of 26.08%. There was no correlation between ANA in FXS patients with and without
minocycline (p=0.318). ANA positivity was also not correlated with the variables examined. Percentage of ANA positivity was seen higher in females treated with minocycline (5 out of 9 patients). The most common titer in ANA positivity was 1:160 for both with and without minocycline. A negative titer of 1:40 was also seen high in patients with minocycline. Homogeneous-speckled was the most common ANA pattern.

Conclusions: ANA positivity was not associated with minocycline treatment in FXS. However, the prevalence of ANA positivity in patients with and/or without minocycline is higher than reported in children with autism and general population. No patients were symptomatic for autoimmune diseases, however
clinicians should still continue to monitor for any possible side effects including autoimmune symptoms in patients on minocycline.

Keywords: Fragile X syndrome; minocycline; antinuclear antibodies; ANA profile.

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