benign recurrent intrahepatic cholestasis

Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic disorder characterized by recurrent episodes of liver dysfunction called cholestasis [1][2]. This condition is marked by intermittent episodes of jaundice and intense pruritus, classically without the development of severe hepatic damage [3].

The defining clinical manifestations of BRIC encompass jaundice accompanied by intense pruritus. Additional symptoms, including anorexia, nausea, vomiting, and abdominal pain, may also be present [4]. These episodes can last from several weeks to months and are often self-limited, meaning they resolve on their own without treatment.

BRIC is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis. The exact cause of BRIC is unknown, but it is believed to be related to genetic mutations that affect the functioning of the liver [5].

In terms of description, BRIC can be described as a rare and recurring condition that affects the liver's ability to process bile, leading to jaundice and pruritus. It is often characterized by episodes of cholestasis, which can last for several weeks or months.

References: [1] Apr 1, 2012 — Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. [2] Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis. [3] by A Salyani · 2020 · Cited by 10 — Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder characterised by recurrent

Benign recurrent intrahepatic cholestasis (BRIC) is a rare liver disorder characterized by recurring episodes of cholestatic jaundice. The symptoms of BRIC can vary from person to person, but they often include:

• Severe itchiness (pruritus) [1]
• Yellowing of the skin and whites of the eyes (jaundice) [1]
• Vague feeling of discomfort (malaise) [4]
• Episodes of cholestatic jaundice lasting from several weeks to months [5]

In some cases, additional symptoms may also manifest, such as:

• Anorexia
• Nausea
• Vomiting
• Weight loss [6]

It's worth noting that the episodes of BRIC can be self-limited and resolve spontaneously. However, the frequency and severity of these episodes can vary significantly from person to person.

According to medical literature, most people with BRIC have their first episode of cholestasis in their teens or twenties [7]. The disorder is also characterized as a rare autosomal recessive or sporadic condition [8].

References: [1] Apr 1, 2012 — [4] Apr 1, 2012 — [5] by VA Luketic · 1999 · Cited by 42 — [6] by EV Geladari · 2024 · Cited by 2 — [7] Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of ... [8] BRIC is a rare autosomal recessive or sporadic disorder, characterized by recurrent episodes of intense pruritus and jaundice that resolve spontaneously.

Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder characterized by recurrent episodes of liver dysfunction called cholestasis. Diagnostic tests for BRIC are crucial in confirming the diagnosis and ruling out other conditions that may cause similar symptoms.

Diagnostic Criteria

A diagnostic criteria for BRIC has been proposed, which includes:

• At least two episodes of jaundice with asymptomatic intervals of at least six months [3]
• Lab and histological evidence of non-suppurative cholestasis [6]

Molecular Genetic Testing

Molecular genetic testing emerges as a valuable tool for diagnosing BRIC. This test can identify mutations in the ATP8B1 and ABCB11 genes, which are associated with BRIC [4].

Liver Function Tests

The diagnosis of BRIC is made when patients have a combination of pruritus (itching) and abnormal liver-function tests [9]. These tests may include:

• Elevated levels of bilirubin and alkaline phosphatase
• Abnormal liver enzymes, such as alanine transaminase (ALT) and aspartate transaminase (AST)

Imaging Studies

Imaging studies, such

Treatment Options for Benign Recurrent Intrahepatic Cholestasis (BRIC)

Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic disorder characterized by recurrent episodes of cholestatic jaundice. While there are limited treatment options available, various medications have been reported to be effective in managing the condition.

Medications Used to Treat BRIC

• Rifampicin: This antibiotic has been used to treat BRIC with some success. In one case report, rifampicin was commenced at a dose of 300 mg per day and resulted in improvement of symptoms [5].
• S-Adenosylmethionine (SAMe): SAMe has been used to treat two brothers and a brother and sister from each of two kindreds with BRIC. The treatment involved administering 800 mg i.v. per day, which led to some improvement in the condition [2].
• Cholestyramine: This non-absorbable polystyrene resin binds bile acids (BAs) in the intestine, reducing their reabsorption and promoting their excretion. Cholestyramine has been used in combination with ursodeoxycholic acid (UDCA) to treat BRIC [7].
• Ursodeoxycholic acid (UDCA): UDCA is a bile acid that has been used to treat various liver conditions, including BRIC. It works by reducing the amount of bile acids produced in the liver and promoting their excretion into the intestine [7].

Newer Treatment Options

• Odevixibat: This drug has been developed specifically for the treatment of progressive familial intrahepatic cholestasis (PFIC), a condition closely related to BRIC. Odevixibat works by inhibiting the bile salt export pump, which is responsible for the transport of bile acids into the intestine [4].
• Maralixibat: Similar to odevixibat, maralixibat has been developed for the treatment of PFIC and works by inhibiting the ileal bile acid transporter (IBAT) [4].

Conclusion

While there are limited treatment options available for BRIC, various medications have been reported to be effective in managing the condition. Further research is needed to fully understand the efficacy and safety of these treatments and to develop more targeted therapies for this rare genetic disorder.

References:

[1] Medical News Meds Like Ozempic Are Causing Folks to Waste More Food. [2] Diagnosis and treatment of drug-induced cholestatic liver diseases. [3] Cerner Multum Consumer Drug Information. [4] New Drug Approvals FDA Grants Accelerated Approval to Ziihera (zanidatamab-hrii) for the Treatment of HER2-Positive Biliary Tract Cancer. [5] Medical News Meds Like Ozempic Are Causing Folks to Waste More Food. [6] Diagnosis and treatment of drug-induced cholestatic liver diseases. [7] Cerner Multum Consumer Drug Information.

Benign recurrent intrahepatic cholestasis (BRIC) can be challenging to diagnose due to its rarity and similarity in symptoms with other liver conditions. Here are some differential diagnoses that should be considered:

• Aagenes Syndrome: A rare genetic disorder characterized by recurrent episodes of jaundice, pruritus, and liver dysfunction, similar to BRIC [4].
• Alagille Syndrome: A genetic disorder affecting the liver and other organs, which can present with cholestasis, pruritus, and liver dysfunction, similar to BRIC [4].
• Alpha1-Antitrypsin (AAT) Deficiency: A genetic disorder that can cause liver damage and cholestasis, which may be mistaken for BRIC [4].
• Arthrogryposis-Renal Dysfunction Cholestasis (ARC): A rare genetic disorder characterized by muscle weakness, kidney dysfunction, and cholestasis, which can mimic the symptoms of BRIC [4].

It's essential to note that a definitive diagnosis of BRIC requires genetic testing for mutations in ATP8B1 and ABCB11 genes, as well as exclusion of other liver conditions through clinical evaluation and laboratory tests [7].