Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This paper reviews the literature reports concerning sickle cell disease and the hepatobiliary system. Sickle cell disease can cause progressive injury to the liver with significant fibrosis, often cirrhosis, and decreased liver function by adulthood. Asymptomatic patients commonly have hepatomegaly and elevated liver enzyme levels. The presence of sickle cell disease obscures features otherwise useful in differential diagnosis. Acute episodes of the disease selectively affect the liver in 10% of patients, causing hepatic crisis with abdominal pain, nausea, fever, jaundice, and transaminase elevation. Viral hepatitis is often clinically indistinguishable from hepatic crisis, but in viral hepatitis the abdominal pain is usually less, the jaundice tends to be more severe, and the transaminase elevation more prolonged. The two can be distinguished by serology and liver biopsy. Furthermore, acute cholecystitis or choledocholithiasis may have clinical and laboratory features similar to sickle cell hepatic crisis or viral hepatitis. By adulthood, 50%-70% of sickle cell patients have gallstones. Elective cholecystectomy is indicated for those who are symptomatic, but, because of operative mortality, there is disagreement concerning surgery for asymptomatic patients. The literature contains nine well-documented cases of acute hepatic failure related to sickle cell disease. The mechanism is unclear; however, as the necrosis is often not severe, a metabolic problem is suggested.
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PMID:Hepatobiliary system in sickle cell disease. 351 88

Sickle cell intrahepatic cholestasis (SCIC) is a rare complication seen in sickle cell patients who present with sudden onset of RUQ pain, progressive hepatomegaly, mild elevation of transaminases, coagulopathy, and extreme hyperbilirubinemia. Early recognition of this entity is essential to avoid life-threatening complications. Diagnosis can be challenging given the overlap in clinical presentation with other conditions affecting the hepatobiliary biliary system in sickle cell anemia such as hepatitis, cholecystitis, and hepatic crisis. Treatment is currently limited to exchange transfusion. The authors present two patients with SCIC and cholelithiasis; the clinical picture of one is complicated by choledocholithiasis.
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PMID:Sickle cell intrahepatic cholestasis with cholelithiasis. 1665 Dec 37

Hereditary spherocytosis (HS) is an inherited membranopathy characterized by phenotypic and genotypic heterogeneity. This study describes the clinico-hematological profile of 70 HS patients diagnosed at a tertiary care center in North India over a period of five years. Patients commonly presented with intermittent jaundice (82.9%), pallor (80%) and dark colored urine (11.4%). The common signs were splenomegaly (92.9%), hepatomegaly (50%), cholelithiasis or choledocholithiasis (36.8%) and hemolytic facies (10%). Family history was contributory in 28.6% patients. Blood transfusion (BT) requirement was present in 35.7% patients. Unconjugated and conjugated hyperbilirubinemia was seen in 89.1 and 10.9% patients respectively. At presentation, the hemoglobin ranged from 3-14 g/dl with a mean of 9.37 g/dl (SD2.43). Spherocytes were seen in 88.6% and incubated Osmotic fragility test (OFT) was positive in 88.2% patients. The Eosin-5-maleimide (EMA) flow cytometric test was done in 28 patients. Mean fluorescence intensity (MFI) for normal subjects was 11861.5 (SD-883.51) and for confirmed HS patients was 7949.3 (SD1304.1). Taking the MFI range of 5341.1-10 557.5 for HS, eight cases of suspected HS/undiagnosed hemolytic anemia with a negative (n=5) or equivocal (n=3) incubated OFT were diagnosed as HS. An increase in HbF level was seen in 10 cases ranging from 2.1 to 17.7% with a mean of 5.66%, three of these had associated beta thalassaemia trait. Twelve patients (17%) underwent splenectomy and 91% of them did not require any BT post-splenectomy. Among the patients treated conservatively 49% had persisting pallor and 16.3% had transfusion requirement.
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PMID:Clinico-hematological profile of hereditary spherocytosis: experience from a tertiary care center in North India. 1949 Jul 62