In the context of a small possible effect size and high frequency in Asian populations, IL28B genotyping is likely to have, at best, limited clinical utility for predicting peg-IFN treatment outcome for CHB patients in the Asia-Pacific region.
SUMMARYWe present a case of a 20-year-old man referred to our service with iron overload and mildly deranged liver biochemistry. Although liver histopathology was consistent with haemochromatosis, iron studies were not consistent with this diagnosis. Serum ceruloplasmin levels were undetectable, leading to a diagnosis of aceruloplasminaemia. Unlike other iron overload disorders, neurological complications are a unique feature of this illness, and often irreversible, once established. The patient was treated with iron chelation prior to the onset of neurological injury, and experienced progressive normalisation of his ferritin and liver biochemistry. This is one of the youngest diagnosed cases in the published literature and, crucially, was a rare case of diagnosis and treatment prior to the onset of neurological sequelae. This is presented alongside a review of previously published cases of aceruloplasminaemia, including responses to iron chelation therapy.
BACKGROUND
Background
Recent prospective studies suggest combination therapy with immunomodulators improves efficacy, but long‐term data is limited.
Aim
To assess whether anti‐tumour necrosis factor alpha (anti‐TNF) monotherapy was associated with earlier loss of response (LOR) than combination therapy in a real‐world cohort with long‐term follow up.
Methods
A retrospective audit was conducted of inflammatory bowel disease patients receiving anti‐TNF therapy in a tertiary centre and specialist private practices. All patients with accurate data for anti‐TNF commencement and adequate correspondence to determine end‐points were included. Outcomes measured included time to first LOR, causes and biochemical parameters.
Results
Two hundred and twenty‐four patients were identified; 139 (62.1%) on combination therapy and 85 (37.9%) on monotherapy. Forty‐five percent of patients had LOR during follow up until a maximum of 8.5 years; 59.4% on combination therapy and 40.6% on monotherapy (P = 0.533). The median time to LOR was not different between groups; 1069 days for combination therapy and 1489 days for monotherapy (P = 0.533). There was no difference in time to LOR between patients treated with different combination regimens or different anti‐TNF agents.
Conclusion
In this large cohort of patients in a real‐world setting, patients treated with anti‐TNF monotherapy had similar rates of LOR as patients on anti‐TNF combination therapy, at both short‐ and long‐term follow up.
The aim of this case report is to show that hemochromatosis can present, unusually, with night sweats. At presentation, hemochromatosis often tends to have non-specific symptoms, making it easy to misdiagnose, especially if it presents with rare symptoms. Misdiagnosis of hemochromatosis can lead to lethal outcomes, given it can cause multiple organ dysfunctions if left untreated and hence the need to identify it early on. The case we present is a 41-year-old woman with previously undiagnosed hemochromatosis complaining of night sweats. She thought she was menopausal. The diagnosis of hemochromatosis was made solely on investigations given that she did not have any other symptoms other than night sweats. Her serum iron concentrations were within the normal range due to menstruation. It is uncommon for women to present with symptoms of hemochromatosis during their reproductive life since their iron concentration is kept within normal range through monthly menstrual bleeding.
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