Do you know? Open Door | Focus on rare diseases - primary biliary cholangitis, have you heard of it?

Contributor: He Tingting, a postgraduate student in rheumatology and immunology at the First Clinical Medical College of Xinjiang Medical University;

Hu Yongwei is a resident physician in the Department of Rheumatology and Immunology, the First Affiliated Hospital of Xinjiang Medical University.

Review expert: Luo Li, chairman of the Clinical Immunology Branch of the Xinjiang Immunology Society; vice president of the Xinjiang Uygur Autonomous Region Immunology Society; director, professor and chief physician of the Department of Rheumatology and Immunology, the First Affiliated Hospital of Xinjiang Medical University.

The bile duct is a channel for transporting bile. If it becomes inflamed, it will inevitably affect the excretion of bile and cause bile stasis. Have you ever heard of primary biliary cholangitis? It is a global disease with a male-to-female ratio of 1:10. The incidence rate is not uncommon in my country, especially in middle-aged and elderly women over 40 years old. The incidence rate is higher. Let us learn about this disease together.

1. What is primary biliary cholangitis?

Primary biliary cholangitis (PBC) is a chronic autoimmune liver disease that affects the interlobular bile ducts, causing bile duct reduction and progressive cholestasis. It is characterized by non-suppurative inflammation of small and medium-sized intrahepatic bile ducts, manifested as chronic and persistent intrahepatic cholestasis, and eventually leads to cirrhosis and even liver failure.

2. Why does primary biliary cholangitis occur?

The pathogenesis of this disease is still unclear, and it may be related to the interaction of genetic and environmental factors leading to abnormal autoimmune function. It is more common in middle-aged and elderly women, usually more common in those over 40-50 years old. The clinical onset is insidious, and some patients have already reached cirrhosis when they are discovered.

3. What symptoms will patients with primary biliary cholangitis experience?

1. Fatigue: It occurs in more than half of the patients and is one of the most common symptoms. It can occur at any time of the disease and affect the patient's quality of life. The severity of fatigue symptoms in different patients may not be consistent with the disease stage. Generally, whether the patient gets enough sleep at night and still feels sleepy during the day.

2. Skin itching: It can manifest as local or diffuse itching of the skin, which is often aggravated by contact with clothing, inflammation or pregnancy. It is cyclical, especially at night. In the late stage of the disease, the itching is reduced;

3. Abdominal pain and bloating: The main manifestations are mild fullness and discomfort in the right upper abdomen. Some patients also have dry mouth, dry eyes, decreased appetite, nausea, vomiting, diarrhea, indigestion, weight loss, etc.

4. Cholestasis: It can manifest as yellowing of the skin, sclera, mucous membranes, etc., accompanied by light-colored stools. It often occurs in patients with a long course of illness or in the late stage of the disease when it is discovered.

5. Portal hypertension: As the disease progresses, a series of complications of cirrhosis and portal hypertension may occur, such as ascites, splenomegaly, hypersplenism, esophageal-venous varicose vein bleeding, and hepatic encephalopathy. In some patients, portal hypertension appears in the early stage, which is not parallel to the degree of cirrhosis, and may be related to portal vein endothelial damage and nodular regenerative hyperplasia caused by venous occlusion.

According to the period when the above symptoms appear, primary biliary cholangitis can be clinically divided into four stages:

Early stage: Mild fatigue and intermittent itching are common, with only elevated serum alkaline phosphatase and γ-glutamyl transpeptidase.

Anicteric stage: Existing bile ducts are damaged and reduced, and cholesterol levels increase.

Jaundice stage: Jaundice continues to deepen, which is equivalent to the stage of liver fibrosis, and the bile duct disappears.

Late stage: The liver and spleen are significantly enlarged, fatigue worsens, and ascites, portal hypertension, and esophageal varices may appear, which is the cirrhosis stage.

4. Does primary biliary cholangitis cause other complications?

1. Abnormal bone metabolism: Metabolic bone disease may occur, mainly manifested as osteoporosis and osteomalacia. In addition to the malabsorption of fat-soluble vitamin D, it may also be related to liver damage. It is more common because more women are prone to it and are in the premenopausal or menopausal period, which accelerates bone loss.

2. Deficiency of fat-soluble vitamins: Reduced bile acid secretion in patients can lead to poor lipid absorption, causing steatorrhea, and deficiency of fat-soluble vitamins A, D, E and K. Severe vitamin A deficiency can lead to night blindness; vitamin E deficiency can cause abnormal neurological manifestations.

3. Hyperlipidemia and skin xanthomas: Patients often suffer from hyperlipidemia, with elevated cholesterol and triglycerides, typically manifested by elevated high-density lipoprotein cholesterol. Continuous elevation of serum cholesterol can lead to skin xanthomas.

4. Extrahepatic organs are affected. Patients may experience non-specific manifestations such as arthralgia, myalgia, Raynaud's phenomenon, as well as cardiopulmonary manifestations such as interstitial lung disease, pulmonary hypertension, myocardial injury, arrhythmia, and even renal involvement in some patients. Renal puncture biopsy may reveal membranous nephropathy, interstitial nephritis, and membranoproliferative glomerulonephritis.

5. How to diagnose and treat primary biliary cholangitis?

(1) When primary biliary cholangitis is considered, serological tests can be performed first to determine whether there are abnormal liver function manifestations, such as increased serum bilirubin, mainly increased direct bilirubin, significantly increased alkaline phosphatase, 5-nucleotidase, and γ-glutamyl transpeptidase, and slightly increased serum transaminase; serum autoimmune hepatitis antibody test indicates positive anti-mitochondrial antibodies; secondly, abdominal B-ultrasound is the first choice for imaging examination;

If the condition is still unclear, liver biopsy can be performed as the gold standard to further clarify the diagnosis, exclude other diseases such as non-alcoholic fatty liver disease, and clarify the disease stage, characteristics and prognosis.

(2) For the treatment of primary biliary cholangitis, drug therapy is the first choice:

Ursodeoxycholic acid (UDCA): It is the first choice drug currently recommended for the treatment of PBC. It can increase the secretion of bile acid, protect cells, fight inflammation and regulate immunity. This drug needs to be taken for a long time, and discontinuation of the drug may cause a rebound in biochemical indicators.

For patients whose drug treatment is ineffective or whose condition is serious, they can seek medical attention in time and choose other treatment methods according to their condition.

6. How to prevent primary biliary cholangitis and what should you pay attention to in your diet after diagnosis?

Disease prevention: In daily life, we should increase nutrition, quit smoking and drinking, avoid using drugs that damage the liver, maintain a regular schedule, exercise appropriately, improve immunity, and maintain a good attitude;

Dietary precautions: This disease affects the metabolism of nutrients in the liver, so a reasonable diet is very important. Balanced nutrition, choose protein with moderate energy, rich in vitamins, low in fat, easy to digest, and diverse in variety;

Maintain a constant diet: focus on low salt, low fat, low sugar, and high protein. Avoid spicy or high-oil foods. Do not overeat. Pay attention to food hygiene and prevent diarrhea.

If you have itching, fatigue, diarrhea, jaundice, abnormal biochemical indicators in liver function tests and other similar symptoms, you can go to the hospital in time for diagnosis and treatment to prevent the progression of the disease; after diagnosis, please follow the doctor's advice, take medication regularly, and follow up regularly to improve the prognosis of the disease.

References:

[1] Xiong Jingping, Zhang Yuexin. Clinical characteristics of 110 cases of primary biliary cholangitis[J]. Liver, 2020, 25(1): 36-39.1008-1704.2020.01.013.

[2] Lin Lin, Chen Ying. Progress in clinical research and development of drugs for the treatment of primary biliary cholangitis[J]. Chinese Journal of New Drugs, 2023, 32(11): 1108-1114.1003-3734.2023.11.005.

[3] Tang Min, Shen Zhenyang, Lu Lungen. Research progress on second-line treatment of primary biliary cholangitis[J]. Liver, 2023, 28(4): 401-403.1008-1704.2023.04.005.

[4] Liu Siqi, Si Qingtunala. Research progress in drug treatment of primary biliary cholangitis[J]. Journal of Gastroenterology and Hepatology, 2023, 32(5), 1006-5709.2023.05.019.

[5] Zhang Lili, Zhang Chun, Wang Yitong, et al. Clinical characteristics of 12 cases of systemic sclerosis combined with primary biliary cholangitis and portal hypertension[J]. Journal of Practical Hepatology, 2023, 26(2): 230-233.1672-5069.2023.02.020.

[6] Deng Qingling, Zhang Peng. Current status and progress of drug treatment for primary biliary cholangitis[J]. Liver, 2023, 28(2): 257-260.1008-1704.2023.02.028.

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