Medications for Cholestatic Pruritus in Progressive Familial Intrahepatic Cholestasis
Other names: PFIC
Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic disorder that worsens over time to cause liver disease, which can be life-threatening. Patients with PFIC have impaired bile flow (cholestasis), and the resulting bile build-up in liver cells causes liver disease and subsequent severe and debilitating itching (pruritus).
There are several different subtypes of PFIC involving different genetic mutations. The more common types of PFIC include:
PFIC1 (FIC 1 deficiency) - mutations in the ATP8B1 gene, which causes deficiency of the FIC1 protein.
PFIC2 (BSEP deficiency) - mutations in the ABCB11 gene, which causes deficiency of the Bile Salt Export Pump (BSEP) protein.
PFIC3 (MDR3 deficiency) - mutations in the ABCB4 gene, which causes deficiency of the MDR3 protein.
PFIC1 and PFIC2 usually appear in the first months of life. PFIC3 may occur later in infancy, childhood, or young adulthood.
Symptoms of progressive familial intrahepatic cholestasis include intense itching, jaundice, poor weight gain, and slowed growth. PFIC can lead to cirrhosis and liver failure within the first 10 years of life.
Progressive familial intrahepatic cholestasis is diagnosed using several different tests including liver function tests, bile acid tests, liver biopsy, and genetic testing.
Some treatments may help, depending on the severity and types of symptoms, and the subtype of PFIC. Some mild forms of MDR3 deficiency (PFIC3) may respond well to ursodeoxycholic acid (ursodiol). Bylvay (odevixibat) is approved for the treatment of pruritus in patients aged 3 months of age and older with PFIC, but may not be effective in patients with BSEP deficiency (PFIC2).
Surgical treatments include partial external biliary diversion (PEBD), partial internal biliary diversion (PIBD), and liver transplantation.
Children with PFIC may need to receive infant formulas or supplements containing MCT (medium-chain triglycerides), a type of fat that is better absorbed in cholestasis. Levels of fat-soluble vitamins (A, E, D, and K) should also be monitored and supplements should be taken if needed.
Drugs used to treat Cholestatic Pruritus in Progressive Familial Intrahepatic Cholestasis
The medications listed below are related to or used in the treatment of this condition.
For ratings, users were asked how effective they found the medicine while considering positive/adverse effects and ease of use (1 = not effective, 10 = most effective).
Activity
Activity is based on recent site visitor activity relative to other medications in the list.
Rx
Prescription only.
OTC
Over-the-counter.
Rx/OTC
Prescription or Over-the-counter.
Off-label
This medication may not be approved by the FDA for the treatment of this condition.
EUA
An Emergency Use Authorization (EUA) allows the FDA to authorize unapproved medical products or unapproved uses of approved medical products to be used in a declared public health emergency when there are no adequate, approved, and available alternatives.
Expanded Access
Expanded Access is a potential pathway for a patient with a serious or immediately life-threatening disease or condition to gain access to an investigational medical product (drug, biologic, or medical device) for treatment outside of clinical trials when no comparable or satisfactory alternative therapy options are available.
Pregnancy Category
A
Adequate and well-controlled studies have failed to demonstrate a risk to the fetus in the first trimester of pregnancy (and there is no evidence of risk in later trimesters).
B
Animal reproduction studies have failed to demonstrate a risk to the fetus and there are no adequate and well-controlled studies in pregnant women.
C
Animal reproduction studies have shown an adverse effect on the fetus and there are no adequate and well-controlled studies in humans, but potential benefits may warrant use in pregnant women despite potential risks.
D
There is positive evidence of human fetal risk based on adverse reaction data from investigational or marketing experience or studies in humans, but potential benefits may warrant use in pregnant women despite potential risks.
X
Studies in animals or humans have demonstrated fetal abnormalities and/or there is positive evidence of human fetal risk based on adverse reaction data from investigational or marketing experience, and the risks involved in use in pregnant women clearly outweigh potential benefits.
N
FDA has not classified the drug.
Controlled Substances Act (CSA) Schedule
M
The drug has multiple schedules. The schedule may depend on the exact dosage form or strength of the medication.
U
CSA Schedule is unknown.
N
Is not subject to the Controlled Substances Act.
1
Has a high potential for abuse. Has no currently accepted medical use in treatment in the United States. There is a lack of accepted safety for use under medical supervision.
2
Has a high potential for abuse. Has a currently accepted medical use in treatment in the United States or a currently accepted medical use with severe restrictions. Abuse may lead to severe psychological or physical dependence.
3
Has a potential for abuse less than those in schedules 1 and 2. Has a currently accepted medical use in treatment in the United States. Abuse may lead to moderate or low physical dependence or high psychological dependence.
4
Has a low potential for abuse relative to those in schedule 3. It has a currently accepted medical use in treatment in the United States. Abuse may lead to limited physical dependence or psychological dependence relative to those in schedule 3.
5
Has a low potential for abuse relative to those in schedule 4. Has a currently accepted medical use in treatment in the United States. Abuse may lead to limited physical dependence or psychological dependence relative to those in schedule 4.
Alcohol
X
Interacts with Alcohol.
Further information
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