Hereditary hemochromatosis is an iron overload disorder that can lead to the impairment of multiple organs and is caused by mutations in one or more different genes.
The diagnosis can be difficult to make because of the varied presentation, the low percentage with positive microscopy for acid-fast bacilli and the time delay of up to several weeks for a positive TB culture. The thresholds for laparoscopy and/or laparotomy for the diagnosis were therefore very low. The diagnosis could be made rapidly by these methods, and early treatment instituted. Six months short-course chemotherapy is very effective in ATB. This should be changed, if appropriate, on the basis of drug susceptibility data.
SummaryA 59-year-old woman presented 5 days after her third instillation of intravesical botulinum toxin with right upper quadrant pain and jaundice. Blood tests demonstrated deranged liver function tests. An abdominal ultrasound, radiograph, magnetic resonance cholangiopancreatography, serum hepatitis screen, immunoglobulins and autoantibody testing were normal. An ultrasound-guided liver biopsy was performed. The histological appearances were those of chronic active/lobular hepatitis. Following treatment with steroids, her jaundice improved over a period of about 3 weeks. Her serum liver function tests returned to normal in 3 months. The steroids were discontinued once her liver function tests normalised. The patient had no further recurrence of jaundice and serum liver function tests have been within normal limits after 6 months follow-up.
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