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benign recurrent intrahepatic cholestasis 2
Description
Benign recurrent intrahepatic cholestasis (BRIC) is a rare hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, which is the reduction or stoppage of bile flow into the intestine. These episodes can cause symptoms such as intense pruritus (itching), jaundice, anorexia, nausea, vomiting, and steatorrhea (excess fat in stool).
BRIC is a benign condition, meaning it does not progress to liver failure, unlike other forms of intrahepatic cholestasis. The episodes of cholestasis can occur at irregular intervals and may be triggered by various factors such as hormonal changes or infections.
The symptoms of BRIC can mimic those of more serious conditions, making diagnosis challenging. However, with proper evaluation and testing, including liver function tests and imaging studies, a definitive diagnosis can be made.
BRIC is typically inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene for their child to inherit it. The condition is relatively rare, affecting only a small number of people worldwide.
It's worth noting that BRIC is characterized by recurrent episodes of cholestasis without permanent liver damage or progression to liver failure [1][2]. This distinguishes it from other forms of intrahepatic cholestasis, which can lead to more severe consequences if left untreated.
Additional Characteristics
- anorexia
- jaundice
- nausea
- vomiting
- intense pruritus (itching)
- steatorrhea (excess fat in stool)
Signs and Symptoms
Based on the provided context, here are the signs and symptoms of Benign Recurrent Intrahepatic Cholestasis (BRIC):
- Jaundice: A yellowing of the skin and whites of the eyes, which is a common finding in BRIC patients [1].
- Severe itchiness (pruritus): This is often the first symptom to appear, followed by jaundice a few weeks later [1].
- Fatigue: Patients may experience fatigue between episodes [2].
- Loss of appetite: A decrease in appetite can be associated with BRIC [2].
- Dark urine and pale stools: These are also common findings in patients with BRIC [2].
- Hepatomegaly: Enlargement of the liver (hepatomegaly) is a common finding in BRIC patients [2].
- Vague feeling of discomfort (malaise): Some patients may experience a vague feeling of discomfort or unease between episodes [3].
It's worth noting that these symptoms are typically self-limiting and resolve spontaneously, with no progression to advanced liver disease. However, repeat episodes can occur.
References: [1] Context 1 [2] Context 2 [3] Context 3
Additional Symptoms
- Dark urine and pale stools
- Severe itchiness (pruritus)
- Vague feeling of discomfort (malaise)
- hepatomegaly
- jaundice
- loss of appetite
- fatigue
Diagnostic Tests
Benign Recurrent Intrahepatic Cholestasis (BRIC) 2 is a rare genetic disorder that affects the liver's ability to transport bile acids into the intestine. Diagnostic tests for BRIC 2 are crucial in confirming the diagnosis and ruling out other conditions.
Genetic Testing Genetic testing is the most definitive way to diagnose BRIC 2 [4]. It involves analyzing DNA samples from individuals with a personal and/or family history of this disorder to identify mutations in the ATP8B1 and ABCB11 genes [4].
Imaging Studies Imaging studies, such as magnetic resonance imaging (MRI), can help rule out other liver conditions that may present similarly to BRIC 2. For example, MRI revealed normal intra- and extrahepatic bile ducts in a patient with BRIC 2 [3]. However, these tests are not diagnostic for BRIC 2.
Liver Biopsy A liver biopsy can provide valuable information about the condition of the liver tissue. In patients with BRIC 2, liver biopsies have shown cholestasis in the centrilobular and intermediate zones [3].
Laboratory Tests Laboratory tests, such as blood work, may also be performed to rule out other conditions that can cause similar symptoms. For example, laboratory examination revealed a sedimentation rate of 17 mm/hour, a white blood cell count of 8.4 x 103/μL, a hemoglobin of 13.8 g/dL, and a hematocrit of 41.7% in a patient with BRIC 2 [6].
Molecular Genetic Testing Molecular genetic testing has emerged as a valuable tool for diagnosing BRIC 2, particularly in cases where the diagnosis is uncertain [7]. This type of testing can provide a molecular diagnosis and help confirm the presence of mutations in the ATP8B1 and ABCB11 genes.
In summary, diagnostic tests for BRIC 2 include genetic testing, imaging studies (such as MRI), liver biopsy, laboratory tests, and molecular genetic testing. These tests are crucial in confirming the diagnosis and ruling out other conditions that may present similarly to BRIC 2.
References: [3] by UE Akbulut · 2021 · Cited by 2 — Magnetic resonance imaging revealed normal intra- and extrahepatic bile ducts. [4] by EA Lorio · 2020 · Cited by 8 — BRIC diagnosis requires a high degree of clinical suspicion and can only be confirmed with genetic testing for corresponding mutations in ATP8B1 and ABCB11. [6] Laboratory examination revealed a sedimentation rate of 17 mm/hour, a white blood cell count of 8.4 x 103/μL, a hemoglobin of 13.8 g/dL, a hematocrit of 41.7% ... [7] by EV Geladari · 2024 · Cited by 2 — Molecular genetic testing emerges as a valuable tool for diagnosing this clinically benign entity. ... Cholestasis in Benign Recurrent Intrahepatic Cholestasis 2.
Additional Diagnostic Tests
- Laboratory Tests
- Genetic Testing
- Liver Biopsy
- Molecular Genetic Testing
- Imaging Studies (MRI)
Treatment
Treatment Options for Benign Recurrent Intrahepatic Cholestasis (BRIC) Type 2
Benign Recurrent Intrahepatic Cholestasis (BRIC) is a rare genetic disorder characterized by recurring episodes of cholestasis, which can lead to pruritus and other symptoms. While there is no cure for BRIC, various drug treatments have been explored to manage the condition.
Medications Used in BRIC Treatment
Several medications have been reported to be effective in reducing symptoms of BRIC:
- Rifampicin: This antibiotic has been shown to be highly effective in relieving pruritus and other symptoms associated with BRIC [1, 4, 9]. In fact, rifampicin is considered the most effective drug against cholestatic attacks in patients with BRIC [2, 7].
- Phenylbutyrate: This medication has also been used to relieve pruritus and other symptoms of BRIC [1].
- Cholestyramine: This non-absorbable polystyrene resin binds bile acids in the intestine, which can help reduce cholestatic attacks in patients with BRIC [4].
- Ursodeoxycholic acid (UDCA): While UDCA is rarely effective in treating BRIC, it has been used as a second-line treatment option [2].
Newer Treatment Options
Recently, two new drugs have been approved for the treatment of Progressive Familial Intrahepatic Cholestasis (PFIC), which shares some similarities with BRIC:
- Odevixibat: This drug helps bile in the intestines leave the body more easily [3].
- Maralixibat: Similar to odevixibat, maralixibat also helps improve bile flow and reduce cholestasis symptoms [3].
Summary
In conclusion, various medications have been used to treat BRIC, with rifampicin being the most effective option. Other treatments like phenylbutyrate, cholestyramine, and UDCA may also be considered on a case-by-case basis.
References:
[1] Sohn MJ (2019) - Medication therapy for BRIC involves relieving symptoms, such as pruritus, for which rifampicin and phenylbutyrate are effective [8, 15].
[2] Lorio EA (2020) - Current medical therapies hinge on the use of rifampicin, which can reduce pruritus, and UDCA, which is rarely effective.
[3] Hof WFJ (2024) - Two new drugs for PFIC have been developed and approved in the last few years: odevixibat and maralixibat.
[4] Geladari EV (2024) - Cholestyramine and UDCA are commonly employed in BRIC treatment.
[5] - Then both of the drugs were ceased and rifampicin in a dose of 300 mg per day was commenced. Rifampicin treatment was accompanied with improvement of symptoms.
[6] Koukoulioti E (2021) - Long‐Term Colestyramine Treatment Prevents Cholestatic Attacks in Refractory Benign Recurrent Intrahepatic Cholestasis Type 1 Disease.
[7] - Aug 5, 2024 — Some have reported success in treating patients with progressive familial intrahepatic cholestasis (PFIC) with ursodeoxycholic acid (20-30 mg/kg ...
[8] Everson GT (1989) - S-Adenosylmethionine (800 mg i.v. per day) was used to treat two brothers and a brother and sister from each of two kindreds with benign recurrent.
[9] Kato K (2023) - Rifampicin has been reported to be the drug most effective against cholestatic attacks in patients with BRIC [2, 7].
Recommended Medications
- Cholestyramine
- Maralixibat
- Odevixibat
- Phenylbutyrate
- rifampicin
- Rifampin
- ursodeoxycholic acid
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Benign recurrent intrahepatic cholestasis (BRIC) type 2, also known as BRIC2, is a rare genetic disorder that affects the liver's ability to transport bile acids. When diagnosing BRIC2, it's essential to consider other conditions that may present with similar symptoms.
Conditions to Consider in Differential Diagnosis:
- Wilson's disease: A genetic disorder characterized by excessive accumulation of copper in the body, leading to liver damage and other systemic problems.
- Alpha-1 antitrypsin deficiency: A genetic disorder that affects the production of a protein called alpha-1 antitrypsin, which helps protect the lungs from damage. Deficiency can lead to lung disease and liver damage.
- Autoimmune hepatitis: A condition in which the immune system attacks the liver cells, leading to inflammation and damage.
- Chronic viral hepatitis: Infections caused by viruses such as hepatitis B or C, which can cause chronic inflammation of the liver.
These conditions may present with similar symptoms to BRIC2, including jaundice, pruritus (itching), and liver dysfunction. A thorough medical evaluation, including laboratory tests and imaging studies, is necessary to rule out these conditions and confirm a diagnosis of BRIC2.
Key Points:
- Wilson's disease, alpha-1 antitrypsin deficiency, autoimmune hepatitis, and chronic viral hepatitis are all potential differential diagnoses for BRIC2.
- A comprehensive medical evaluation is essential to rule out these conditions and confirm a diagnosis of BRIC2.
- Genetic testing may be necessary to confirm a diagnosis of BRIC2.
References:
[6] Luketic and Shiffman proposed six criteria for diagnosing BRIC, which included cholestasis with intense pruritus, at least two episodes of jaundice, and liver function tests showing elevated bilirubin levels. [7] Wilson's disease, alpha-1 antitrypsin deficiency, autoimmune hepatitis, and chronic viral hepatitis are conditions that should be considered in the differential diagnosis of BRIC2. [8] Conditions like Wilson's disease, alpha-1 antitrypsin deficiency, autoimmune hepatitis, and chronic viral hepatitis are to be considered in the differential diagnosis of BRIC2.
Additional Differential Diagnoses
- Chronic viral hepatitis
- Alpha-1 antitrypsin deficiency
- disease
- autoimmune hepatitis
Additional Information
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- oboInOwl#id
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- ORDO:99961
- IAO_0000115
- A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.
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- benign recurrent intrahepatic cholestasis 2
- oboInOwl#hasExactSynonym
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- t349940
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- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_2104
- owl#annotatedSource
- t349481
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