Progressive Familial Intrahepatic Cholestasis (PFIC) is a rare liver disorder that starts affecting in early childhood. It is accumulation of bile in the liver cells.
Bile formation is vital for liver function, aiding in fat absorption and toxin removal. However, when bile secretion is impaired, it can lead to serious health issues, including liver failure.
This can lead to liver damage and a range of health issues. PFIC is typically caused by mutations in genes those regulate the movement of bile out of liver cells.
Children with PFIC may experience symptoms such as jaundice, itching, an enlarged liver or spleen, and problems with growth and development. In severe cases, PFIC can progress to liver failure, a life-threatening condition that may require a liver transplant.
In most cases age of patients ranges from few weeks to two years.
The prevalence of PFIC varies across different populations. While it is considered rare, affecting an estimated 1 in 50,000 to 100,000 births worldwide, the prevalence may differ among ethnic groups.
Some forms of PFIC are more common in specific populations, but the condition can affect people of any ethnicity.
Although PFIC mutations have been identified in various populations, including European and American, research in Pakistani patients, despite the population’s high consanguinity, has been lacking.
Research suggests that certain genetic factors may contribute to the development of PFIC. Among the genes implicated in PFIC are ATP8B1, ABCB11, ABCB4, and others, each associated with different types of PFIC. PFIC2, for instance, results from mutations in the ABCB11 gene, which encodes the bile salt export pump (BSEP).
BSEP plays a crucial role in transporting bile salts out of liver cells into bile ducts. These genetic mutations can be inherited from one or both parents, but in some cases, they occur spontaneously.
Diagnosing PFIC can be challenging, as its symptoms overlap with other liver disorders.
Clinicians recommend hematological and pathological laboratory parameters. Early detection and diagnosis are crucial for implementing appropriate treatment and preventing complications. This can be done through genetic analysis.
Treatment for PFIC focuses on managing symptoms and improving quality of life. This may include supportive medicine, special diets to support liver function, and supportive care to address nutritional needs. Sometimes liver transplantation is recommended.
Despite advances in understanding PFIC, much remains to be learned about this complex disorder. Ongoing research efforts aim to uncover the underlying causes of PFIC, develop more effective treatments, and improve outcomes for affected individuals.
But it is correlated with advancement correlation with description of genetic etiology. The molecular analysis will help in provision of an opportunity for genetic counselling, prenatal/preimplantation diagnosis, carrier testing in the extended family members and within-family marriage planning.
Genetic counselling and carrier screening help to reduce the burden of these disorders in our population and managing affected individuals. (Hafsa Riaz)
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