Haemochromatosis Flashcards
What is Haemochromatosis?
Haemochromatosis is a genetic disorder characterized by excess iron accumulation in the body, especially in the liver, heart, pancreas, and joints.
What causes Haemochromatosis?
It is primarily caused by mutations in the HFE gene, leading to low levels of hepcidin, which disrupts the body’s ability to regulate iron absorption.
What are the common symptoms of Haemochromatosis?
Common symptoms include fatigue, weakness, lethargy, arthralgias, hepatomegaly, skin pigmentation, and diabetes mellitus.
What are some early signs of Haemochromatosis?
Early signs include subtle skin bronzing and joint pain.
What are advanced symptoms of Haemochromatosis?
Advanced symptoms include cirrhosis, diabetes, cardiac manifestations, and secondary hypogonadism.
What is the most common demographic affected by Haemochromatosis?
It is most common in individuals of northern European descent.
What is the prevalence of Type 1 Haemochromatosis?
Type 1 haemochromatosis (HFE-related) has a prevalence of approximately 1 in 200 to 400 people.
What are some examination findings in Haemochromatosis?
Findings include hyperpigmentation of the skin, joint swelling and tenderness, hepatomegaly, and signs of diabetes or hypogonadism.
What laboratory investigations are used for Haemochromatosis?
Investigations include transferrin saturation, ferritin levels, genetic testing for HFE mutations, MRI of the liver, and liver biopsy.
What is the first-line treatment for Haemochromatosis?
Phlebotomy is the first-line treatment, aiming to reduce iron levels by regularly removing blood.
What are the risks associated with phlebotomy?
Risks include fatigue, anemia, and hypotension.
What are the benefits of phlebotomy in Haemochromatosis?
Phlebotomy reduces iron overload and prevents organ damage, significantly improving prognosis if initiated early.
What is hepcidin’s role in Haemochromatosis?
Hepcidin is a key regulatory hormone in iron metabolism, which is reduced in haemochromatosis.
What are the potential complications of untreated Haemochromatosis?
Complications include liver cirrhosis, hepatocellular carcinoma, diabetes mellitus, cardiomyopathy, and arthropathy.
What differentiates Haemochromatosis from iron overload due to chronic transfusion?
Differentiation is based on transfusion history and anemia.
