Congenital hepatic fibrosis (CHF) usually presents with signs and symptoms of portal hypertension, although cases presenting in infancy with cholestasis are well known [8]. [indianpediatrics.net]

Special attention should be paid to the clinical presentation because, despite the presentation, in a significant number of patients its etiology is not able to be defined. 5-8 The main complication presented by the patient was upper GI bleeding secondary [elsevier.es]

Management [ edit ] Management includes control of esophageal bleeding/varices and treatment of associated renal disease if present. [en.wikipedia.org]

CHF has initial presentation may be at around 3-6 months. The presentation ranges between 1.8-14 years, Portal Hypertension is a usual accompaniment and renal involvement is seen with 9 ]. [omicsonline.org]

Conclusion The age of presentation of CHF typically ranges between 1.8-14 years, both cases in this report were presented at a relatively older age. [aclr.com.es]

• Easy Bruising

  Cirrhosis can lead to Easy bruising or bleeding, or nosebleeds Swelling of the abdomen or legs Extra sensitivity to medicines High blood pressure in the vein entering the liver Enlarged veins called varices in the esophagus and stomach. [icdlist.com]

  bruising and abnormal bleeding, most often from swollen veins in the digestive tract Confusion or problems thinking Pale or clay-colored stools Bleeding from upper or lower intestinal tract Exams and Tests Your health care provider will do a physical [mountsinai.org]

  Later stage liver damage symptoms include: jaundice (yellow skin) vomiting blood fatigue weakness, loss of appetite itching easy bruising swelling of the legs ankles, or abdomen liver cancer bleeding in the gut increased sensitivity to alcohol and drugs [drinkingandyou.com]

• Jaundice

  Kidney failure Jaundice Severe itching Gallstones A small number of people with cirrhosis get liver cancer. Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy. Cirrhosis has many causes. [icdlist.com]

  […] and weight loss Nausea or belly pain Small, red spider-like blood vessels on the skin As liver function worsens, symptoms may include: Fluid buildup of the legs (edema) and in the abdomen (ascites) Yellow color in the skin, mucous membranes, or eyes (jaundice [mountsinai.org]

  In babies who respond well, jaundice and other symptoms usually disappear after several weeks. [liverfoundation.org]

  A common symptoms of liver disease are jaundice. With jaundice, the skin and the whites of the eyes take on a yellowish color as a result of the accumulation of bilirubin and bile pigments in the blood. [medical-dictionary.thefreedictionary.com]

  Liver cancer Inherited diseases, such as hemochromatosis and Wilson disease Symptoms of liver disease can vary, but they often include swelling of the abdomen and legs, bruising easily, changes in the color of your stool and urine, and jaundice, or yellowing [medlineplus.gov]

The underlying disorder can have a significant effect on morbidity and mortality in both mother and fetus, and a diagnostic workup should be initiated promptly. [clevelandclinicmeded.com]

• Globulins Increased

  Serum globulin increases in cirrhosis and in most liver disorders with an inflammatory component. Anemia is common and usually normocytic with a high RBC distribution width. [merckmanuals.com]

• Enlargement of the Spleen

  People with congenital hepatic fibrosis have an enlarged liver and spleen (hepatosplenomegaly). The liver is also abnormally shaped. [ghr.nlm.nih.gov]

  Other later symptoms, some due to complications, include: Reddened palms Loss of body hair Enlarged liver Enlarged spleen Appearance of thin, purplish-red, spidery looking blood vessels on the skin, especially around the navel Water retention and swelling [chp.edu]

  […] liver or spleen Excess breast tissue Swollen abdomen, as a result of too much fluid Reddened palms Red spider-like blood vessels on the skin Small testicles Widened veins in the abdomen wall Yellow eyes or skin (jaundice) You may have the following tests [mountsinai.org]

  Splenomegaly or enlargement of the spleen. [medicinenet.com]

• Hepatocellular Carcinoma

  Screening for Hepatocellular Carcinoma Also important to consider is screening for hepatocellular carcinoma. [acc.org]

  It may also present due to one of its complications: liver failure ascites portal hypertension hepatocellular carcinoma (HCC) Focal hepatocellular necrosis caused by a variety of insults (see above) is accompanied by the three characteristics of cirrhosis [radiopaedia.org]

  Liver transplantation is indicated for patients with end-stage liver disease or hepatocellular carcinoma. [merckmanuals.com]

  carcinoma Congenital liver disorders (Caroli disease) Drug-induced liver disease Fatty liver disease Nonalcoholic fatty liver disease Nonalcoholic steatohepatitis Hepatitis B and C viruses Jaundice Liver disease/cirrhosis, end-stage Metabolic liver disease [swedish.org]

  Case presentation We report the case of a 27-year-old Iranian woman with congenital hepatic fibrosis leading to cirrhosis and subsequently hepatocellular carcinoma. [jmedicalcasereports.biomedcentral.com]

However, no treatments have been shown to affect patient-oriented outcomes. [aafp.org]

Management and treatment There is no cure for congenital atransferrinemia. [orpha.net]

UHealth | Sylvester Comprehensive Cancer Center | Bascom Palmer Eye Institute Font Size Group 30 Group 30 Contrast logo Menu Search University of Miami Health System Close Search Find a Doctor Treatments Page 1 Featured Treatments For Allergy and Immunology [uhealthsystem.com]

The aim of treatment after surgery is to encourage normal growth and development. If bile flow is good, the child is given a regular diet. [liverfoundation.org]

Treatment to ease symptoms and prevent complications Various treatments may be advised, depending on the severity of the cirrhosis and the symptoms that develop. [patient.info]

Prognosis With proper treatment the prognosis is good but due to the small number of patients, long-term complications remain unknown.. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis depends on the type of atresia: (1) intrahepatic—both nonsyndromic (with cirrhosis usually developing in late childhood, and fatal without liver transplantation) and syndromic (e.g. Alagille’s syndrome, due to mutation in the ... [oxfordmedicine.com]

Early recognition is particularly important in neonates and infants because a delay in diagnosis may have a negative effect on the prognosis. [pedsinreview.aappublications.org]

Patients who continue to drink alcohol, even small amounts, have a very poor prognosis. [merckmanuals.com]

What is the prognosis for portal hypertension? Portal hypertension is a complication of an underlying liver disease. [medicinenet.com]

Imaging is not reliable enough to differentiate between various underlying etiologies. [radiopaedia.org]

[…] structures numerous epithelium-lined structures of biliary origin elongated and cystic spaces lined by regular biliary epithelium central or peripheral localization in the portal space luminal inspissated bile +/- cholangitis associated Caroli disease Etiology [humpath.com]

Etiology Congenital atransferrinemia is due to mutations in the TF gene (3q21) encoding TF, a blood protein necessary for the proper transport of iron to the liver, spleen, and bone marrow. [orpha.net]

Case Report Introduction There are several causes of liver cirrhosis spanning autoimmune, viral, congenital, and toxic etiologies. [sci.amegroups.com]

Alejandro Hernández Plata) As explained above, given the complexity of this case it was not easy to reach an etiological diagnosis of liver disease. [elsevier.es]

This problem motivated one of the authors to establish a new model of disaster epidemiology. [books.google.com]

Summary Epidemiology The prevalence is unknown. To date, there have been 16 reported cases from 14 families. Clinical description Disease onset usually occurs in infancy or early childhood. Only one reported patient was diagnosed at the age of 20. [orpha.net]

Congenital cytomegalovirus infection: review of the epidemiology and outcome. Obstet Gynecol Surv. 2002; 57 :245–256. [ PubMed ] [ Google Scholar ] 8. Fowler KB, Stagno S, Pass RF. [ncbi.nlm.nih.gov]

Epidemiology Frequency International Congenital hepatic fibrosis is a rare autosomal recessive disease; the exact incidence and prevalence are not known. [emedicine.medscape.com]

Symptoms, which may be early or late, are mostly related to an associated portal hypertension. [2, 5] Pathophysiology Congenital hepatic fibrosis results from a malformation of the ductal plate (the embryological precursor of the biliary system), secondary [emedicine.medscape.com]

Congenital hepatic fibrosis and Caroli’s disease closely resemble each other pathophysiologically, in that both occur as a result of ductal plate malformation. [omicsonline.org]

There are no clinical markers that predict the course of a pregnancy and the pathophysiologic mechanisms are not always understood, but knowledge and management of the preconception liver disease and efficacious pre-pregnancy and prenatal care are essential [clevelandclinicmeded.com]

Based on this information, strategies are discussed that are aimed at the prevention, early diagnosis and therapy of chronic liver diseases, thus preventing their progression to cirrhosis and its complications, including HCC development. [books.google.com]

More importantly, a preventive active vaccine against hepatitis A is available, and is often used as a preventative mechanism for staff in day-care centres or health settings. [health24.com]

[…] of the liver that can’t be prevented, but the type that is caused by long-term alcohol abuse or drug abuse certainly can. [sepsis.org]

Can portal hypertension be prevented? Some liver diseases due to inborn errors of metabolism like copper and iron cannot be prevented. The same can be said with congenital anatomy problems. [medicinenet.com]

Preventive Cardiology Clinic (Lipid Clinic): A preventive cardiology program that serves patients who have elevated lipid levels and hypertension. [childrenshospital.org]