RESUMEN
Background Graves' disease is the most common cause of thyrotoxicosis. It can be treated using three different modalities, which include anti-thyroid drugs (ATD), radioactive iodine (RAI), and near-total thyroidectomy. This cohort study aimed to assess the treatment modality preferred at King Abdulaziz Medical City (KAMC) and to compare the treatment options in relation to the prognosis of the disease. Methods A retrospective cohort study was conducted on a total of 100 patients with Graves' disease who were treated and followed up in the endocrine clinics at KAMC between January 2013 and December 2018. Data on age at diagnosis, duration of illness, treatment modality, and response to treatment were extracted from paper and electronic medical files and analyzed. Results A total of 100 patients with Graves' disease were included in this cohort study. The ratio of female:male was 2:1. The median age in years was 32 (16). They were treated with ATD (60%), RAI ablation (40%), and none were treated by surgery. The remission rate was 53.3% for patients treated with ATD and 95% for RAI ablation. Hypothyroidism occurred in 90% of the responders to RAI and in 12% that were treated with ATD. Most of the patients that relapsed underwent RAI as the second line of treatment. Their remission rate was 78.6%. Conclusion ATD was the treatment modality mostly used for Graves' disease in our center. It resulted in a remission rate of 53%, which is higher than reported in national studies. Although the rate of remission post RAI ablation was as high as 95%, most patients developed hypothyroidism.
RESUMEN
Familial hemophagocytic lymphohistiocytosis (HLH) is a fatal autosomal recessive disorder resulting in an exaggerated and ineffective immune response. Genetic defects in familial HLH can lead to the impaired function of the secretory lysosome-dependent exocytosis pathway. We report an STXBP2 homozygous missense mutation c.1139A>G, p.(Gln380Arg) consistent with a genetic diagnosis of familial hemophagocytic lymphohistiocytosis type 5 associated with chronic diarrhea in a seven-year-old girl. She was diagnosed with HLH and achieved remission by the HLH-2004 protocol and allogeneic matched bone marrow transplantation (BMT) from her sibling. However, six years later, she had a relapse of HLH, which required a second BMT. Ever since then, she continued to have persistent chronic watery diarrhea and failure to thrive. Patients with familial HLH type 5 due to STXBP2 gene mutation can manifest as either with or without chronic diarrhea. This unusual relationship directs toward a specific gene mutation of STXBP2 as the cause of chronic diarrhea in familial HLH. The prevalence of familial HLH in Saudi Arabia is underestimated. Due to the high rate of consanguinity and the local customs of marrying within the same community, clinicians should consider familial HLH as a cause of persistent, unexplained, chronic diarrhea among the pediatric age group.
