The list of medical tests mentioned in various sources as used in the diagnosis of Hemochromatosis includes:
A thorough medical history, physical examination, and routine blood tests help rule out other conditions that could be causing the symptoms. This information often provides helpful clues, such as a family history of arthritis or unexplained liver disease.
Blood tests can determine whether the amount of iron stored in the body is too high. The transferrin saturation test determines how much iron is bound to the protein that carries iron in the blood. The serum ferritin test shows the level of iron in the liver. If either of these tests shows higher than normal levels of iron in the body, doctors can order a special blood test to detect the HFE mutation, which will help confirm the diagnosis. (If the mutation is not present, hemochromatosis is not the reason for the iron buildup, and the doctor will look for other causes.) A liver biopsy, in which a tiny piece of liver tissue is removed and examined under a microscope, will disclose how much iron has accumulated in the liver and whether it is damaged. (Source: excerpt from Hemochromatosis: NIDDK)
The following medical news items are relevant to diagnosis and misdiagnosis issues for Hemochromatosis:
16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about diagnostis of Hemochromatosis.
According to the American Diabetes Association (ADA), DM can be diagnosed if any of the following exist:
❑ symptoms of diabetes (polyuria, polydipsia, and unexplained weight loss) plus a random (non-fasting) blood glucose level greater than or equal to 200 mg/dl accompanied by symptoms of diabetes.
❑ a fasting blood glucose level (no caloric intake for at least 8 hours) greater than or equal to 126 mg/dl.
❑ a plasma glucose value in the 2-hour sample of the oral glucose tolerance test greater than or equal to 200 mg/dl. This test should be performed after a glucose load dose of 75 g of anhydrous glucose.
If results are questionable, the diagnosis should be confirmed by a repeat test on a different day. The ADA also recommends the following testing guidelines:
❑ Test every 3 years: people age 45 or older without symptoms
❑ Test immediately: people with the classic symptoms
❑ High-risk groups should be tested frequently: Individuals with impaired glucose tolerance usually have normal blood levels unless challenged by a glucose load, such as a piece of pie or glass of orange juice. Two hours after a glucose load, the glucose level ranges from 140 to 199 mg/dl. These individuals have an abnormal fasting glucose level between 110 and 125 mg/dl. Because the fasting plasma glucose test is sufficient to make the diagnosis of diabetes, it replaces the oral glucose tolerance test. (See Classifying blood glucose levels.)
An ophthalmologic examination may show diabetic retinopathy. Other diagnostic and monitoring tests include urinalysis for acetone and blood testing for glycosylated hemoglobin (Hb A1C), which reflects recent glucose cortisol.
Source: Professional Guide to Diseases (Eighth Edition), 2005
The initial presentation of DM can vary. Either type may present with the insidious onset of the symptoms associated with hyperglycemia (polyuria, polydipsia, and polyphagia) or with the abrupt onset of an acute complication [diabetic ketoacidosis (in type 1 DM) or nonketotic hyperglycemic-hyperosmolar coma (in type 2 DM)].
A. Type 1 diabetes. Patients with type 1 DM typically present before the age of 18 years. The symptoms heralding the disease emerge gradually as hyperglycemia appears and becomes more frequent and profound. Physiologic stress (e.g., an acute illness or trauma), which increases the requirement for insulin, can unmask the insulinopenia and give the impression that the problem is acute. Enuresis may be a clue for polyuria in a child who was previously toilet-trained. Lethargy, weakness, and weight loss are other common features.
B. Type 2 diabetes. Patients with type 2 DM usually present after the age of 40 years. The diagnosis is often made in an asymptomatic patient as a result of routine blood tests that reveal an elevation of plasma glucose. Other patients may present with the symptoms of hyperglycemia. The patient may have a history of recurrent skin infections or persistent vulvovaginitis. Other common symptoms include altered sensations in the extremities, nocturia, erectile dysfunction, and visual disturbances (Chapters 4.6, 5.1, 10.3, and 10.4). The use of glucocorticoids, β-adrenergic agonists, or thiazides can precipitate the symptoms of type 2 DM.
Patients often present with similar physical findings in both type 1 and type 2 DM, owing to hyperglycemia. In the young child, failure to grow and gain weight can occur with type 1 DM. The child may be ill appearing, lethargic, and often have signs of dehydration (tachypnea, tachycardia, and low blood pressure). Ketone production will produce a fruity odor on the patient’s breath. The patient with type 2 DM tends to be obese (especially upper body obesity) and may appear fatigued and have muscle weakness or decreased vision. The neurologic examination may reveal painful feet and numbness. Monilial infections may be found in the vagina and pubic areas.
Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000
In nonpregnant adults, diabetes mellitus is diagnosed with:
❑ at least two occasions of a fasting plasma glucose level greater than or equal to 126 mg/dl
❑ typical symptoms of uncontrolled diabetes and a random blood glucose level greater than or equal to 200 mg/dl
❑ a blood glucose level greater than or equal to 200 mg/dl at 2 hours after ingestion of 75 grams of oral dextrose.
Two tests are required for diagnosis; they can be the same two tests or any combination and may be separated by more than 24 hours.
An ophthalmologic examination may show diabetic retinopathy. Other diagnostic and monitoring tests include urinalysis for acetone and blood testing for glycosylated hemoglobin, which reflects glucose control over the past 2 to 3 months.
Source: Handbook of Diseases, 2003
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