Diagnosing Hemochromatosis: Physical assessments, blood tests, and further investigations
Hemochromatosis, a genetic disorder that affects iron metabolism, can lead to excessive iron accumulation in the body. Here's a look at how doctors diagnose and treat this condition.
A doctor will typically review a person's medical history, conduct a physical examination, and order diagnostic tests to confirm a hemochromatosis diagnosis. Signs during a physical exam may include swelling and tenderness in the joints, skin discoloration, abdominal pain or tenderness near the liver, fatigue or lethargy.
If hemochromatosis is suspected, blood tests may be ordered to measure serum transferrin saturation or serum ferritin concentration. A ferritin level above 200 micrograms per liter (mcg/L) in women or 300 mcg/L in men, or a transferrin saturation of more than 40% in women or 50% in men, may indicate hemochromatosis.
Radiography and imaging tests may also be used in the diagnostic process. A liver biopsy can provide accurate information about the iron levels in a person's liver and assess the level of liver damage caused by hemochromatosis. Doctors may order a liver biopsy when a person has elevated liver enzymes or blood ferritin levels greater than 1,000 mcg/L.
Once a person receives a hereditary hemochromatosis diagnosis, a doctor may recommend genetic screening for any direct relative, such as a sibling. The presence of mutations C282Y and H63D can confirm a diagnosis of hereditary hemochromatosis. Genes can play a role in the development of hemochromatosis, with certain variants in the HFE gene causing hereditary hemochromatosis.
Treatment for hemochromatosis often involves regular phlebotomies, a procedure where a healthcare professional draws blood from a person to reduce the amount of iron in their body. This is the most common treatment method and can help reduce symptom severity and prevent complications from occurring.
To prevent complications of hemochromatosis, a person can also undergo liver biopsy, follow the schedule for phlebotomies or chelation therapy, undergo annual blood tests, make changes to diet, learn how to prevent infections, avoid alcohol consumption, and follow recommended vaccinations.
In severe cases of neonatal hemochromatosis, treatment may involve exchange transfusions, IV immunoglobulin, and liver transplant. In adults, a living caregiver may be able to donate a small portion of their liver for a liver transplant.
Anyone who receives blood transfusions and develops secondary hemochromatosis cannot receive phlebotomies and may instead be prescribed chelating agents. A fasting blood glucose test may also be ordered to check for diabetes, a potential complication associated with hemochromatosis.
Doctors may ask about family history of the disorder, diabetes, cirrhosis, symptoms experienced, and other health conditions such as arthritis or diabetes during the diagnostic process.
By understanding the signs, diagnosis, and treatment of hemochromatosis, individuals can take steps to manage their condition and lead healthier lives.
