Abstract
The comorbidity between multiple sclerosis (MS) and progressive familial intrahepatic cholestasis type-3 (PFIC3) has never been described yet. ABCB4 gene encodes the multidrug resistant protein 3 (MDR3) and its mutations induce PFIC3 as well as intrahepatic cholestasis of pregnancy (ICP) and drug-induced liver injury (DILI). We describe the case of a 32-year-old female with MS and PFIC3 who was effectively treated with natalizumab and ursodeoxycholic acid (UCDA), in contrast to glatiramer acetate, dimethylfumarate, and IFNb1a associated with DILI. Our findings clarify the pharmacodynamics of MS therapies and suggest natalizumab plus UDCA as the effective treatment of PFIC3/MS phenotype, unlike the others that should be avoided.
© 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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ATP Binding Cassette Transporter, Subfamily B / deficiency*
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ATP Binding Cassette Transporter, Subfamily B / genetics
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Adult
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Chemical and Drug Induced Liver Injury / etiology
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Cholestasis, Intrahepatic / complications*
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Cholestasis, Intrahepatic / genetics
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Comorbidity
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Dimethyl Fumarate / adverse effects
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Female
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Glatiramer Acetate / adverse effects
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Humans
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Immunosuppressive Agents / therapeutic use*
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Interferon beta-1a / adverse effects
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Multiple Sclerosis, Relapsing-Remitting / complications*
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Multiple Sclerosis, Relapsing-Remitting / drug therapy
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Mutation
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Natalizumab / therapeutic use*
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Ursodeoxycholic Acid / therapeutic use*
Substances
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ATP Binding Cassette Transporter, Subfamily B
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Immunosuppressive Agents
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Natalizumab
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Glatiramer Acetate
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Ursodeoxycholic Acid
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multidrug resistance protein 3
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Dimethyl Fumarate
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Interferon beta-1a
Supplementary concepts
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Cholestasis, progressive familial intrahepatic 3