benign recurrent intrahepatic cholestasis 1

Benign Recurrent Intrahepatic Cholestasis (BRIC) Type 1 Description

Benign recurrent intrahepatic cholestasis type 1, also known as BRIC1, is a rare genetic disorder characterized by intermittent episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile.

Key Features:

• Episodes of liver dysfunction (cholestasis) without extrahepatic bile duct obstruction
• Initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months
• No progression to chronic liver damage in most cases

Symptoms:

• Recurrent episodes of intense pruritus (itching) and jaundice that resolve spontaneously without leaving considerable liver damage
• Anorexia, nausea, vomiting, and steatorrhea (fatty stools) may also occur during episodes

Causes:

• Caused by homozygous or compound heterozygous mutation in the ATP8B1 gene (602397)

The description of BRIC1 is characterized by its rare occurrence and the intermittent nature of liver dysfunction, which can mimic a malignant condition. However, with proper diagnosis and management, most individuals with BRIC1 experience no long-term consequences.

References: [4] [5] [6]

Benign Recurrent Intrahepatic Cholestasis (BRIC) 1 is a rare disorder characterized by recurring episodes of cholestatic jaundice. The signs and symptoms of BRIC 1 typically include:

• Severe itchiness: This is often the first symptom to appear, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later [1].
• Jaundice: Yellowing of the skin and whites of the eyes is a common finding in BRIC 1 patients [2].
• Fatigue: Patients often experience fatigue between episodes [3].
• Loss of appetite: A decrease in appetite is also commonly reported [3].
• Dark urine and pale stools: These symptoms are associated with BRIC 1, indicating liver dysfunction [4].
• Hepatomegaly: Enlargement of the liver (hepatomegaly) is a common finding in patients with BRIC 1 [5].

These symptoms can vary from person to person, but severe itchiness and jaundice are often the most prominent features. Episodes of cholestasis typically begin in late teens or early twenties and may be accompanied by other symptoms such as malaise, anorexia, nausea, vomiting, and pruritus [6].

Based on the provided context, here are the diagnostic tests for Benign Recurrent Intrahepatic Cholestasis (BRIC) 1:

• Liver biopsy: Characterized by noninflammatory intrahepatic cholestasis and Kupffer cell hyperplasia. There is no progression to cirrhosis and liver histology shows a normal or near-normal appearance [3].
• Laboratory examination: May reveal elevated levels of certain enzymes, such as gamma-glutamyl transferase (GGT), although normal GGT levels are a characteristic finding [6].
• Genetic analysis: Recommended for individuals with a personal and/or family history of BRIC to ensure a molecular diagnosis [5].

It's worth noting that the diagnostic criteria for BRIC include episodes of jaundice separated by a symptom-free interval of at least six months, lab and histological evidence of non-inflammatory intrahepatic cholestasis, and exclusion of other causes of cholestasis [2][7].

Treatment Options for Benign Recurrent Intrahepatic Cholestasis (BRIC) Type 1

Benign recurrent intrahepatic cholestasis (BRIC) type 1 is a rare genetic disorder characterized by recurrent episodes of cholestatic jaundice. While there is no definitive treatment for BRIC, various medications and therapies have been used to alleviate symptoms during an episode.

• Bile acid sequestrants: These drugs can help reduce bile acids in the blood and

Benign recurrent intrahepatic cholestasis type 1 (BRIC1) is a rare genetic disorder that affects the liver's ability to transport bile salts. To determine the differential diagnosis for BRIC1, it's essential to consider other conditions that may present with similar symptoms.

Other causes of cholestasis:

• Alagille Syndrome [3]
• Aagenes Syndrome [6]
• Alpha1-Antitrypsin (AAT) Deficiency [6]
• Arthrogryposis-Renal Dysfunction Cholestasis [6]

These conditions can cause similar symptoms, such as jaundice and liver dysfunction. However, they are distinct entities with different underlying causes.

Progressive familial intrahepatic cholestasis type 1 (PFIC1):

BRIC1 is often confused with PFIC1, another genetic disorder that affects the liver's ability to transport bile salts. While both conditions share some similarities, they have distinct differences in their clinical presentation and molecular mechanisms [7].

Key diagnostic criteria:

To diagnose BRIC1, it's crucial to exclude other causes of cholestasis and consider the following key requirements:

• Several episodes of jaundice separated by periods of normal liver function [9]
• Normal liver histology with exclusion of other causes of cholestasis [2]

By considering these factors and excluding other potential causes of cholestasis, healthcare providers can accurately diagnose BRIC1 and provide appropriate management.

References: [2] - Salyani A (2020) [3] - Miura R (2022) [6] - Various sources [7] - Miura R (2022) [9] - Luketic VA (2004)