Diabetes Over View

Bronze diabetes-The Hemochromatosis

Introduction

Diabetes is associated with certain well-known syndromes like the DIDMOAD, MODY etc. One amongst them is Haemochromatosis or Bronze Diabetes. It is a conglomeration of symptoms like cirrhosis, diabetes mellitus, hyper pigmentation of the skin etc. The primary defect in it is that the Iron metabolism is hampered, leading to the accumulation of iron in various organs of the body. This ultimately results to all its symptoms.

Epidemiology

This is an inherited disease, which tends to run in the family and usually presents in old age mostly in the males. But it can also present in the young, the adults or in the females.

There is also a rare non-familial type of hemochromatosis in which the mutations of the gene arise anew.

Genetics

The inherited form has been found to develop, because of the mutations in the gene called as the HFE gene , named after the scientist who discovered it. The mutations are of two types and can be detected by the blood or cheek brushings of the patient.

Susceptibility:

1. Men with family history of premature death by heart attack, liver disease, diabetes, arthritis, impotence, neurological disorders or cancer.
2. Women with the above family history and have undergone menopause, premature discontinuation of periods or have undergone hysterectomy,
3. The condition can also be present in blood relatives of these men and women.
4. Women are less susceptible than men because of their menstrual cycle which protects them from the over loading effects of the iron since almost 1mg/day of iron is lost at an average in the menstrual blood loss.

Pathology

The basic condition in this disease is a defect in the carrier proteins of iron in our body, which transfer the body iron from one place to the other. This would lead to the accumulation of body iron stores in all the organs of the body especially in the liver, heart, pancreas, brain etc.

Symptoms

Hemochromatosis can affect the entire system, and can have a number of related symptoms. These symptoms are usually similar to those of diabetes, heart failure, arthritis, liver disease, impotence, and depression. These are misleading and are common cause for misdiagnosis. What makes the diagnosis all the more difficult is the fact that no two individuals with the disease show similar symptoms related to excessive iron build up. The most common symptoms associated with excessive iron build up:

• Changes in skin tone and colour such as jaundice, bronze or gray-olive colored skin (the bronzing), a tan without exposure to the sun, redness in the palms of the hands
• Symptoms of diabetes in long standing disease like excess thirst , excess hunger, excess urination etc.
• Chronic fatigue
• Arthritic pain in joints
• Impotence
• Amenorrhea (premature cessation of menstrual cycle)
• Abdominal pain
• Severe weight loss
• Shortness of breath
• Chest pain
• Heart arrhythmia
• Depression
• Elevated blood sugar
• Hypothyroidism
• Enlargement of spleen
• Elevated liver enzymes (ALT/AST)
• Fibromyalgia
• Irritable bowel syndrome

Genetic Testing

Genetic testing for hemochromatosis; also called molecular analysis or DNA analysis, is a type of testing which helps identify mutations present on particular genes that may later result in the development of the disease. The gene for hereditary hemochromatosis is called HFE. It is located on a portion called the short arm of chromosome 6. Two mutations or defects of HFE contribute to the malfunction of iron metabolism and possibly transport problems of the metal throughout the body.

Many questions have been raised as to who should go for genetic testing for the HFE mutations? The answer may frighten some people but it is necessary that parents who are planning a family

And those in whom one of the parents has been diagnosed with hemochromatosis should go for the test. This test may give deep insights into preventing the fatal results of the condition. The test can be of great value if both parents are carriers of one single mutation of HFE and pass them on to the offspring. The test determines the risk in these children of developing the disease.

The test is done using two methods:

1. Cheek Brush method
2. Whole blood method

Cheek brush collection

It involves scraping cells from inside the mouth using a mascara-like wand with tiny bristles on the end. In the Whole blood collection a needle is inserted into the arm and a vial of blood removed and the samples are sent to a genetic laboratory> though the test provides only 85% of accuracy yet it has been considered to be of great help in testing for carrier status in couples planning to have a family. In cases where both the parents are carriers there is a possibility that the child may develop the disease while the parents remain symptom free. Iron Panel Tests reveal if the person is affected with hemochromatosis. They are a group of specific blood tests, genetic analysis, and possibly liver biopsy. Some physicians might do all these including a complete iron panel: serum iron, total iron binding capacity, hemoglobin and hematocrit, ferritin, serum transferrin receptor, transferrin and transferrin iron saturation percentage.

Risk Factors

Anyone homozygous is at a high risk of developing the disease more so if he or she is an offspring of parent, both of whom are carriers of the HFE gene mutation. They should take precautions to prevent disease. These include cessation of smoking, cut down in consumption of alcohol, eating less of red meat and regular blood donations. Though these steps do not guarantee that the disease may not develop but they do help in reducing the risks associated.

Some Misunderstandings

Many of the doctors believe that Hemochromatosis (HHC) is a rare condition of older men. It is tricky since it is not revealed in routine blood work; specific tests are needed to diagnose this iron overload disorder. There is a possibility that the physician might initially diagnose the patient with having diabetes, arthritis, heart trouble, liver damage, impotence, liver-gall bladder disease, and stomach disorder long before he or she thinks to order an iron panel. Research says that almost 67% of the cases are misdiagnosed. It has to be taken as a real health concern though appearing to be rare because timely diagnosis and treatment can help revert the destructive consequences.