Acquired hemochromatosis: A case report in a Filipino patient and literature review

@#Hemochromatosis is a hereditary or acquired chronic iron overload syndrome that presents with organ damage to the liver, pancreas, heart, joints and skin due to pathologic iron deposition. Hereditary hemochromatosis is a common genetic disorder with human hemochromatosis protein (HFE) mutations found in European ethnic groups but has low-prevalence in the Asian population. Secondary or acquired hemochromatosis may result from ineffective erythropoiesis, liver disease and parenteral iron overload. A 51-year-old Filipino woman presented with generalized hyperpigmentation associated with severe anemia and hepatomegaly. Laboratory investigation revealed a markedly elevated serum ferritin (>2,000 g/L, 10x the normal) and hepatic aminotransferases (6x elevated). Magnetic resonance imaging (MRI) T2-weighted images revealed hypotense signal of the liver with the magnetic susceptibility measurement (MSM) of iron at 12.297 mg/g indicating severe iron overload. Dermatopathology findings revealed hyperpigmented epidermis with hemosiderin found in the basal keratinocytes as well as around cutaneous adnexal structures. Special stain with Perls’ Prussian blue revealed iron granules that are seen as blue pigments in the epidermis and dermis. Treatment with the oral iron chelator deferiprone (DFP) showed improvement. However, the patient developed hospital-acquired sepsis, deteriorated, and eventually died.

Hemacromatosis como causa de cirrosis en Costa Rica: a propósito de un caso / Hemochromatosis as a cause of cirrhosis in Costa Rica: report of a case

Se presenta el caso de un paciente masculino de 63 años con historia de hepatopatía crónica evolucionada en estadio de cirrosis. Durante su control médico y su último internamiento no se logró dilucidar su etiología. Al realizársele la autopsia hospitalaria se demostró la presencia de hierro en hígado, páncreas, miocardio y mucosa gástrica con tinciones histoquímicas. Al correlacionar este hallazgo con el cuadro clínico y los hallazgos de laboratorio se demostró que el origen de la cirrosis fue una hemocromatosis primaria. Se debe recordar que en el hemisferio occidental la hemocromatosis primaria es una causa de hasta 5 por ciento de la cirrosis y por ello el clínico y el anatomopatólogo debe tenerla en cuenta en sus diagnósticos diferenciales, pues su tratamiento es sumamente sencillo...

A Case of Secondary Hemochromatosis Revealed in Gastrofiberscopy / 대한소화기내시경학회지

A patient who underwent a transfusion due to an aplastic anemia subsequently experienced secondary hemochromatosis, which is very rare in Korea. The 56 year old female was admitted to our hospital with complaints of general weakness, fatigue, a brown-colored facial complexion, dyspnea upon exertion, and abdominal distension. Laboratory examination disclosed functional impairment of the liver and echocardiography revealed a congestive heart failure pattern. Gastrofiberscopy revealed brown colored gastric mucosa, and a fundal mucosa biopsy revealed a hemosidt pigment in iron stain.

A Case of Secondary Hemochromatosis after Allogeneic Bone Marrow Transplantation in Severe Aplastic Anemia / 대한혈액학회지

Increasing number of successful bone marrow transplantation (BMT) for hematologic malignancies has focused attention on possible long-term consequences of the procedure. Liver disease after day 100 is usually due to chronic graft-versus-host disease, chronic HBV or HCV infection, drug, or other virus induced hepatitis. Iron overload is also an important cause of liver dysfunction after BMT, especially in multitransfused patients. We observed a male patient diagnosed with secondary hemochromatosis after allogeneic BMT. His total red cell support had been only 14 units. He was admitted to hospital due to jaundice and generalized weakness for two weeks. Previously he was diagnosed with hepatitis C and treated with -interferon for six months, then his serum became negative for anti-HCV and HCV RNA. On admission, studies for evaluation of liver function showed total protein, 6.4g/dL, albumin, 4.2g/dL, AST, 242IU/L, ALT, 144IU/L, total bilirubin, 15.6 mg/dL, direct bilirubin, 13.3mg/dL, alkaline phosphatase, 223IU/L and prothrombin time, 10.5 sec (INR 0.76; 100%). His iron status was serum iron 246microgram/dL, total iron binding capacity, 277microgram/dL, transferrin saturation, 88.8% and serum ferritin, 8,042ng/mL, and the liver biopsy showed extensive amounts of hemosiderin deposits in hepatocytes. After using deferoxamine to reduce iron overload, his liver function and iron status were substantially improved. Thus the long-term follow-up of BMT patients should include analysis of HCV and iron status. This may prevent the development of clinically significant chronic liver disease. The cause of iron overload in this patient may not simply due to transfusional overload and therefore further tests of intestinal iron absorption are warranted.