Diagnosis and management of hereditary haemochromatosis

Abstract

Hereditary haemochromatosis, one of the most common genetic disorders in the United States, can produce systemic iron deposition leading to end-organ failure and death if untreated. The diagnosis of this condition can be challenging as elevated serum ferritin may be seen in a variety of conditions, including acute and chronic liver disease, a range of systemic inflammatory states, and both primary and secondary iron overload syndromes. Appropriate and timely diagnosis of haemochromatosis is paramount as simple interventions, such as phlebotomy, can prevent or reverse organ damage from iron overload. The recognition of other aetiologies of elevated ferritin is also vital to ensure that appropriate intervention is provided and phlebotomy only utilized in patients who require it. In this review, we summarize the existing data on the work up and management of hereditary haemochromatosis and present a practical algorithm for the diagnosis and management of this disease.

Disseminated cryptococcosis and hemochromatosis: clues to diagnosis

“…Hereditary hemochromatosis can be suspected in patients with unexplained chronic liver disease, cirrhosis, heart failure, cardiac conduction defects, early onset type 2 diabetes mellitus, male sexual dysfunction or skin hyperpigmentation. 15,16 The patient of this report had diabetes mellitus and may have had skin hyperpigmentation obscured by severe jaundice. His son had skin hyperpigmentation.…”

“…Hereditary hemochromatosis (also called genetic hemochromatosis) is a slowly progressive disease of organ-damaging iron accumulation primarily involving liver, heart, joints and endocrine organs. 15,16 It is autosomal recessive, with low penetrance, but highly prevalent in people of northern European descent. 17,18 The comorbidity of hemochromatosis and other chronic liver-injuring diseases, hepatitis B in this case, accelerates the progression to cirrhosis and end-stage liver disease.…”

“…Early organ injury due to iron overload can be suspected in patients who present with unexplained chronic fatigue, lethargy or arthritis, especially involving the second and third metacarpophalangeal joints. 15,16,19 Testing should begin with iron studies: serum iron, transferrin, transferrin saturation and ferritin. Hereditary hemochromatosis causes abnormally high saturation of serum transferrin (iron binding capacity), over 45%.…”

“…Hereditary hemochromatosis causes abnormally high saturation of serum transferrin (iron binding capacity), over 45%. 15,16 It also causes elevated levels of serum ferritin, the circulating iron storage protein, over 300 ng/mL in men or over 200 ng/mL in women. 15,16 Either high transferrin saturation or ferritin can be indicative of iron overload, although ferritin is an acute phase reactant and also released by any hepatocytic injury, rendering it less specific than transferrin saturation.…”

Polycythemia and Anemia in Hereditary Hemochromatosis

“…Hereditary hemochromatosis is an autosomal recessive disorder caused by dysregulated iron homeostasis resulting in excessive iron deposition in parenchymal cells. The organ systems primarily involved include the liver, heart, and endocrine glands (i.e., pancreatic islet cells) [1]. Once excessive deposition ensues, affected parenchymal cells undergo toxic changes resulting in cell death.…”