Topic: Hemochromatosis
Question: How to diagnose Hemochromatosis ?
Answer: Health care providers use medical and family history, a physical exam, and routine blood tests to diagnose hemochromatosis or other conditions that could cause the same symptoms or complications.
                
- Medical and family history. Taking a medical and family history is one of the first things a health care provider may do to help diagnose hemochromatosis. The health care provider will look for clues that may indicate hemochromatosis, such as a family history of arthritis or unexplained liver disease.    - Physical exam. After taking a medical history, a health care provider will perform a physical exam, which may help diagnose hemochromatosis. During a physical exam, a health care provider usually      - examines a patients body    - uses a stethoscope to listen to bodily sounds    - taps on specific areas of the patients body      - Blood tests. A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. Blood tests can determine whether the amount of iron stored in the body is higher than normal:1      - The transferrin saturation test shows how much iron is bound to the protein that carries iron in the blood. Transferrin saturation values above or equal to 45 percent are considered abnormal.    - The serum ferritin test detects the amount of ferritina protein that stores ironin the blood. Levels above 300 g/L in men and 200 g/L in women are considered abnormal. Levels above 1,000 g/L in men or women indicate a high chance of iron overload and organ damage.    If either test shows higher-than-average levels of iron in the body, health care providers can order a special blood test that can detect two copies of the C282Y mutation to confirm the diagnosis. If the mutation is not present, health care providers will look for other causes.    - Liver biopsy. Health care providers may perform a liver biopsy, a procedure that involves taking a piece of liver tissue for examination with a microscope for signs of damage or disease. The health care provider may ask the patient to temporarily stop taking certain medications before the liver biopsy. The health care provider may ask the patient to fast for 8 hours before the procedure.  During the procedure, the patient lies on a table, right hand resting above the head. The health care provider applies a local anesthetic to the area where he or she will insert the biopsy needle. If needed, a health care provider will also give sedatives and pain medication. The health care provider uses a needle to take a small piece of liver tissue. He or she may use ultrasound, computerized tomography scans, or other imaging techniques to guide the needle. After the biopsy, the patient must lie on the right side for up to 2 hours and is monitored an additional 2 to 4 hours before being sent home.  A health care provider performs a liver biopsy at a hospital or an outpatient center. The health care provider sends the liver sample to a pathology lab where the pathologista doctor who specializes in diagnosing diseaselooks at the tissue with a microscope and sends a report to the patients health care provider. The biopsy shows how much iron has accumulated in the liver and whether the patient has liver damage.
                
Hemochromatosis is rare, and health care providers may not think to test for this disease. Thus, the disease is often not diagnosed or treated. The initial symptoms can be diverse, vague, and similar to the symptoms of many other diseases. Health care providers may focus on the symptoms and complications caused by hemochromatosis rather than on the underlying iron overload. However, if a health care provider diagnoses and treats the iron overload caused by hemochromatosis before organ damage has occurred, a person can live a normal, healthy life.
                

                
Who should be tested for hemochromatosis?   Experts recommend testing for hemochromatosis in people who have symptoms, complications, or a family history of the disease.   Some researchers have suggested widespread screening for the C282Y mutation in the general population. However, screening is not cost-effective. Although the C282Y mutation occurs quite frequently, the disease caused by the mutation is rare, and many people with two copies of the mutation never develop iron overload or organ damage.   Researchers and public health officials suggest the following:   - Siblings of people who have hemochromatosis should have their blood tested to see if they have the C282Y mutation.   - Parents, children, and other close relatives of people who have hemochromatosis should consider being tested.   - Health care providers should consider testing people who have severe and continuing fatigue, unexplained cirrhosis, joint pain or arthritis, heart problems, erectile dysfunction, or diabetes because these health issues may result from hemochromatosis.
Source: NIDDK