• Choose a category
• All
• Classic-Fiction

• Tell emergency department personnel what your child ate or drank before becoming ill, what type of medication he or she takes regularly, and the medicine’s dosage.

There is no cure or effective treatment for Canavan disease. Care focuses on treating the symptoms as they develop and making the child as fully functioning and comfortable as possible.

Hereditary Hemochromatosis

Hereditary hemochromatosis (also known as iron overload) is an inborn error of metabolism that causes the body to absorb and store too much iron. Because hemochromatosis is an autosomal recessive disorder, a person needs to inherit a copy of the defective gene from both parents to have the disease. Hemochromatosis is the most common genetic disorder in the United States, affecting mostly whites of northern European descent (especially Irish and German), although people in other ethnic groups can also be affected. One in eight people has one copy of the defective gene, and nearly 1 in 200 has two copies of the defective gene and has the disease, although many people with the disease never develop an overload of iron. Males are five times more likely than females to develop symptoms of hemochromatosis and tend to develop problems from the excess iron at a younger age, possibly because women naturally lose iron during menstruation, pregnancy, and breastfeeding.

Iron is an essential nutrient that the intestines absorb from food to make up part of hemoglobin, the pigment in red blood cells that transports oxygen from the lungs to the rest of the body. In people with hemochromatosis, the intestines absorb twice as much iron as normal. When the body cannot eliminate excess iron, it is stored in tissues, particularly in the liver, heart, and pancreas. Over time, a buildup of iron can cause organ damage and lead to serious problems such as arthritis, liver disease, heart abnormalities, erection problems, early menopause, abnormal pigmentation of the skin (making it look gray or bronze), diabetes, or thyroid deficiency. If the disease is treated early, before organ damage occurs, a person can lead a healthy life.

Because the genetic defect that causes hemochromatosis is so common and the disorder is easy to treat successfully when diagnosed at an early stage, many doctors recommend that all people be screened for the disorder. Testing is definitely recommended for people who have a sibling, parent, child, or other close relative with hemochromatosis.

Symptoms

Although a person has the genes for hemochromatosis from birth, he or she rarely has noticeable symptoms until adulthood, usually between ages 30 and 60. In men, symptoms of hemochromatosis tend to develop between ages 30 and 50; in women, symptoms usually appear after age 50. The disorder often goes undiagnosed because the symptoms can be vague and similar to those of many common disorders, such as osteoarthritis (see page 996). The most common initial symptoms are joint pain, fatigue, lack of energy, abdominal pain, loss of sex drive, and heart problems. Ask your doctor about being tested for hemochromatosis if you have any of these symptoms. Many people have no symptoms when the disease is diagnosed.

Diagnosis

Doctors diagnose hemochromatosis from a person’s health history, a physical examination, and blood tests to measure the amount of iron stored in the body. If a blood test shows a higher-than-normal level of iron, the doctor will probably confirm the diagnosis with a genetic test to detect the disease-causing gene mutation. To evaluate the buildup of iron in the liver and to determine if the liver is damaged, he or she may recommend a liver function test and, if the results are abnormal, a liver biopsy (microscopic analysis of a sample of tissue taken from the liver).

Treatment

Hemochromatosis is usually treated by a doctor who specializes in liver disorders (a hepatologist), digestive disorders (a gastroenterologist), or blood disorders (a hematologist). You may need to see a number of specialists,