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DOI: 10.1055/s-0034-1386139
Common procholestatic variants may confer risk of anabolic steroids induced cholestasis: presentation of two cases
Background: Use of anabolic steroids (AAS) increases among amateur athletes. Over 96% of AAS users report side effects (Bolding/Elford, Addiction 2002), including acute cholestasis. We present two patients carrying procholestatic polymorphisms within hepatobiliary transporter genes (bile salt export pump ABCB11, phosphatidylserine flippase ATP8B1 and phosphatidylcholine floppase ABCB4) who developed cholestasis after use of AAS.
Methods and results: Two male patients (age 24 and 26 years) were admitted to our department with acute AAS-induced cholestasis. Laboratory tests revealed increased serum bilirubin levels (Patient 1: 34, Patient 2: 18 mg/dl) but normal alkaline phosphatase. Biliary obstruction and other liver diseases were excluded. Patient 2 had increased ALT (2500 IE) and GGT (200 IU/l) and tested positive for SLA autoantibodies but did not fulfill other autoimmune hepatitis criteria. Liver biopsies showed blunt cholestasis in Patient 1 and cholestasis/portal inflammation in Patient 2. Genotyping of hepatobiliary transporters (Table 1) revealed several procholestatic polymorphisms in both patients. After stopping AAS and under therapy with rifampicin + ursodeoxycholic acid (Patient 1) or ursodeoxycholic acid + azathioprin + budesonide (Patient 2) all liver tests normalized in both patients within the next weeks.
Conclusions: The compound ABCB4-ABCB11-ATP8B1 genotypes, previously associated with cholestatic conditions (Jüngst/Lammert, Dig Dis. 2013) may confer a predisposition to acute cholestasis after use of AAS. Genotyping of these variants could be of use in identifying individuals at-risk for AAS-induced cholestasis.
Variants |
Patient 1 |
Patient 2 |
ABCB4 c.504T >C |
Homozygous |
Heterozygous |
ABCB4 c.787A >T |
Homozygous |
Heterozygous |
ABCB11 p.A444V |
Homozygous |
Heterozygous |
ABCB11 c.3084A >G |
Heterozygous |
Homozygous |
ATP8B1 p.R952Q |
Homozygous |
Homozygous |