Haemochromotosis typically has a late onset owing to gradual build-up of toxic levels of iron in body cells. For men, HHC typically appears in 30's-50's, though it can appear after age 20. It is later in women owing to iron loss from menstruation, often delayed until after menopause or even the 60's. However, HHC can occur before menopause in women. Other causes of loss of blood can also delay onset of iron overload symptoms, such as blood donations, ulcers, etc.
The list of diagnostic tests mentioned in various sources as used in the diagnosis of Hemochromatosis includes:
These home medical tests may be relevant to Hemochromatosis:
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 of Hemochromatosis:
16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the diagnostic tests for Hemochromatosis.
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.
A. Type 1 diabetes. Not all children with hyperglycemia have diabetes. Some children with a severe illness (e.g., severe dehydration from diarrhea or asthma treated with corticosteroids) may have elevated serum glucose and ketosis. If the diagnosis is uncertain, a low serum insulin level along with hyperglycemia supports the diagnosis of DM and excludes all other diagnoses. Elevated glycosylated hemoglobin provides a strong circumstantial case for the diagnosis of DM, but it is not used alone for the diagnosis. Performing a glucose tolerance test is rarely necessary. However, it is imperative to obtain insulin levels along with the blood glucose values when it is performed.
B. Type 2 diabetes. The American Diabetes Association (ADA) diagnostic criteria for type 2 DM are either (a) symptoms of diabetes and a casual plasma glucose level of 200 mg/dl or greater, (b) a fasting plasma glucose level of 126 mg/dl or greater, or (c) a plasma glucose level of 200 mg/dl or greater 2 hours after an oral glucose load (75 g). A “casual” plasma blood glucose level is obtained at any time of the day without regard to the time of the last meal, and a “fasting” level is obtained after a fast of at least 8 hours. If the only criterion is hyperglycemia, confirmation should be made on a different day (1).
The presence of polyuria, polydipsia, polyphagia, and weight loss along with hyperglycemia and ketosis are sufficient to establish the diagnosis of type 1 DM. This provides an ample basis for beginning insulin therapy. Hyperglycemia can also occur during a severe illness. Therefore, the diagnosis of type 1 DM is not always clear. Low insulin levels may be needed to make the diagnosis. The key to the diagnosis of type 2 DM is the detection of hyperglycemia. Patients with symptoms of diabetes should have testing according to the ADA recommendations. Once the diagnosis is made, formulate a treatment program with the patient.
References
1. American Diabetes Association. Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabetes Care 1997;20:1183–1197.
2. National Diabetes Data Group. Diabetes in America, 2nd ed. Bethesda, MD: National Institute of Diabetes and Digestive and Kidney Diseases, 1995. NIH publication 1468-1995.
3. Baker JR. Autoimmune endocrine disease. JAMA 1997;278:1931–1937.
Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000
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