An 18-year-old woman recently started the combined oral contraceptive pill and present with
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An 18-year-old woman recently started the combined oral contraceptive pill and present with
acute abdominal pain, vomiting and muscle weakness on examination she has a pulse rate of
86beat/minute and her blood pressure is 160/85 mmHg other findings are:
Serum amylase 110 IU/L <100
Serum ALT 22 IU/L <50
Alkaline phosphatase 102 IU/L 50-120
Albumin 41 g/L 35-50
Gamma GT 37 IU/L <60
Bilirubin 10 mol/L 0-20
Calcium 2.41 mmol/L 2.20-2.70
Plasma glucose 5.0 mmol/L
Triglycerides 1.5 mmol/L
What is the most likely diagnosis?
#MRCS @isurg @admin -
Acute intermittent porphyria
Acute intermittent porphyria (AIP) is caused by a partial deficiency of the enzyme porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase (HMBS), which is inherited as an autosomal dominant trait, leading to the accumulation of porphyrin precursors.
AIP can be triggered or worsened by hormonal contraceptives, particularly those containing estrogen and/or progesterone, due to the potential for these hormones to increase the activity of an enzyme involved in porphyrin synthesis, leading to a buildup of toxic precursors. -
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