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Progressive familial intrahepatic cholestasis (PFIC)
A rare genetic disorder that causes progressive liver disease which typically leads to liver failure, known for causing severe debilitating pruritus
Prevalence
1-9 / 100,000
Age of Onset
ICD-10
K76.8
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Affected individuals experience severe itching, jaundice, portal hypertension, and hepatosplenomegaly
FACT
The hallmark feature of this disorder is severe debilitating pruritus
FACT
Pruritus is often out of proportion to the level of jaundice
FACT
Pruritus may be hard to identify in young babies because they have difficulty scratching. Instead, they may be irritable and sleep poorly
FACT
Scratching in babies often starts as digging at the ears and eyes, which are the first areas to show bleeding and scarring
Interest over time
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Common signs & symptoms
Autosomal recessive inheritance
Cirrhosis
Conjugated hyperbilirubinemia
Diarrhea
Failure to thrive
Fat malabsorption
Hepatomegaly
Jaundice
Current treatments
Medications
Ursodeoxycholic acid (UDCA) may be prescribed to improve liver function and reduce bile buildup. However, its effectiveness varies among individuals
Fat-soluble vitamin supplements
Patients with PFIC may have difficulty absorbing fat-soluble vitamins (A, D, E, and K), so supplementation is often necessary to prevent deficiencies
Liver transplantation
In severe cases where other treatments are ineffective, liver transplantation may be considered. This involves replacing the diseased liver with a healthy donor liver. Liver transplantation can provide a cure for PFIC and improve quality of life
Nutritional support
A dietitian may recommend a diet high in calories and nutrients to support growth and development, as well as to help manage symptoms