gi hemochromatosis

Question 1

what is hemochromatosis and the two types

Answer 1

Hemochromatosis is a condition that leads to abnormal iron deposition in specific organs. There are two main types: primary (hereditary) and secondary (e.g., transfusion-related).

Question 2

what gene is mutated in hemochromatosis type 1

Answer 2

hfe

Question 3

how does hemochromatosis come about

Answer 3

defect in hle gene causes increased iron absorption by enterocytes causing over many years iron to build up. iron reacts with h2o2 to form free radicals which destroys tissues.

Question 4

clinical features of hemochromatosis

Answer 4

Asymptomatic: 75% of cases [2]
General symptoms
Fatigue, lethargy
Increased susceptibility to infections [7]
Organ-specific symptoms
Liver
Abdominal pain
Hepatomegaly
Cirrhosis
Increased risk of hepatocellular carcinoma (common cause of death) [8]
Pancreas: signs of diabetes mellitus (polydipsia, polyuria)
Skin: hyperpigmentation, bronze skin
Pituitary gland: hypogonadism, erectile dysfunction, testicular atrophy, loss of libido, amenorrhea [9]
Joints: arthralgia (typically symmetrical arthropathy of the MCP joints II and III), chondrocalcinosis (accumulation of calcium pyrophosphate)
Heart
Cardiomyopathy
Cardiac siderosis
The process of accumulation of iron in cardiac tissue.
Can lead to chamber remodeling and subsequent dilated (reversible) or restrictive cardiomyopathy .
Occurs in individuals with iron overload (e.g., due to hereditary hemochromatosis or repeated blood transfusions)
Cardiac arrhythmias: paroxysmal atrial fibrillation (most common), sinus node dysfunction, complete AV block, atrial and ventricular tachyarrythmias, and sudden cardiac death
Congestive heart failure

Question 5

treatment of hemochromatosis

Answer 5

Primary hemochromatosis
Dietary changes
Diet low in iron
Restriction of alcohol and vitamin C supplements
Consumption of tea
Therapeutic phlebotomy (first-line treatment)
Initially 1–2 phlebotomy sessions per week; after reaching target ferritin and hemoglobin levels, phlebotomy should be performed every 2–4 months.
Target levels: serum ferritin 20–50 μg/L; hemoglobin > 12 g/dL (or 120 g/L)
Prognosis: initiation of therapy in the pre-cirrhotic phase → normal life expectancy and no organ damage
Drug-induced iron chelation
Agents: deferoxamine, deferasirox, or deferiprone
Indication: particularly when phlebotomy is contraindicated, e.g., in cases of anemia, severe heart disease, or difficult venipuncture