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119 Possible Causes for Hepatomegaly, Mutation in the Hereditary Hemochromatosis Gene

  • Hemochromatosis

    […] transferrin saturation (TS); ALT; AST; GGT; elevated C-reactive protein; ß-thalassemia; neutrophils; lymphocytes; monocytes; platelets; metacarpophalangeal joint hypertrophy; hepatomegaly[ncbi.nlm.nih.gov] Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes.[ncbi.nlm.nih.gov] Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and[ncbi.nlm.nih.gov]

  • Heart Failure

    A physical examination revealed a systolic murmur, which was best audible in the right parasternal side, ascites, and hepatomegaly.[ncbi.nlm.nih.gov] The actuarial survival rates of persons who are homozygous for the mutation of the hemochromatosis gene C282Y have been reported to be 95%, 93%, and 66%, at 5, 10, and 20[doi.org] We report the case of a 41-year-old female patient admitted to the Department of Cardiology with clinical signs of right heart failure: congested jugular veins, hepatomegaly[ncbi.nlm.nih.gov]

  • Congestive Heart Failure

    Right upper quadrant sonogram revealed hepatomegaly of 15 cm, trace amount of perihepatic ascites, pericholecystic fluid, and also thickened edematous gallbladder wall with[ncbi.nlm.nih.gov] The actuarial survival rates of persons who are homozygous for the mutation of the hemochromatosis gene C282Y have been reported to be 95%, 93%, and 66%, at 5, 10, and 20[doi.org] Cardiac examination at the age of 6 years revealed constrictive pericarditis with significant elevation of atrial filling pressures, consecutive hepatomegaly, and protein[ncbi.nlm.nih.gov]

  • Hemolytic Anemia

    Following this, a physical examination may reveal hepatomegaly or tenderness in the abdominal region.[symptoma.com] We herein report the assessment of glycemic control in a 41-year-old man with dehydrated hereditary stomatocytosis and a PIEZO1 gene mutation complicated by diabetes mellitus[ncbi.nlm.nih.gov] H1N1 influenza–associated AIHA in children may respond to treatment with oseltamivir and intravenous immunoglobulin. [6] Fetal splenomegaly and associated hepatomegaly could[emedicine.com]

  • Liver Cirrhosis

    Cardinal symptoms include fasting hypoglycemia, lactic acidosis and hepatomegaly as well as neutropenia.[ncbi.nlm.nih.gov] We herein report the assessment of glycemic control in a 41-year-old man with dehydrated hereditary stomatocytosis and a PIEZO1 gene mutation complicated by diabetes mellitus[ncbi.nlm.nih.gov] […] aminotransferase, and prothrombin international normalized ratio; LR, 0.09; 95% CI, 0.03-0.31); a platelet count 160 x 10(3)/μL (LR, 0.29; 95% CI, 0.20-0.39); or the absence of hepatomegaly[ncbi.nlm.nih.gov]

  • Porphyria Cutanea Tarda

    An increased frequency of hereditary hemochromatosis gene mutations occurs in patients with porphyria cutanea tarda.[ncbi.nlm.nih.gov] Mutations in the hereditary hemochromatosis (hh) gene (HFE) explain the siderosis in approximately 20% patients, suggesting that the remaining occurrences result from additional[ncbi.nlm.nih.gov] A case of PCT caused by iron overload associated with hereditary hemochromatosis (HH) is reported.[ncbi.nlm.nih.gov]

  • Cryptogenic Cirrhosis

    […] elderly women with liver atrophy and severe cirrhotic ascites diagnosed clinically with cryptogenic cirrhosis and 1 adult man with abnormal serum aminotransferase levels and hepatomegaly[ncbi.nlm.nih.gov] Because of the discovery of the candidate gene (HFE) for hereditary hemochromatosis, we may now be able to screen high-risk patient populations for the abnormal mutation ([ncbi.nlm.nih.gov] CARDIAC CIRRHOSIS Clinic a l featu r es · Mild jaundice · Liver dysfunction · Hepatomegaly – firm, non tender • *Ascites · Peripheral edema · Oesophageal bleeding · Encephalopathy[medicscientist.com]

  • Toxic Hepatitis

    It is concluded that the hepatomegaly noted in patients given short-term, high-dosage steroid therapy is due to excessive glycogen accumulation within parenchymal cells.[doi.org] Conclusions: The prevalence of the HFE gene mutations associated with hereditary hemochromatosis is very increased among subjets with drug-induced hepatotoxicity.[siicsalud.com] Hepatomegaly was recorded when ascites decreased. Liver function tests suggested cholestatic jaundice. The mortality rate in the hospital was 10%.[ncbi.nlm.nih.gov]

  • Fatty Liver

    Furthermore, these cases of hepatomegaly and fatty liver have been also in the context of concomitant extrahepatic side effects.[ncbi.nlm.nih.gov] […] is mutated in patients with hereditary hemochromatosis.[doi.org] There is hepatomegaly (increased size of the liver) in almost 70% of the cases.[symptoma.com]

  • Neonatal Hepatitis

    The hepatitis group had the highest frequencies of high-grade hepatomegaly and splenomegaly. Fifty six cases completely recovered.[ncbi.nlm.nih.gov] […] diagnosis [ edit ] The condition is sometimes confused with juvenile hemochromatosis, which is a hereditary hemochromatosis caused by mutations of a gene called hemojuvelin[en.wikipedia.org] There was jaundice and hepatomegaly. Others systems were normal.[pediatriconcall.com]

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