20/04/14
  
Hemochromatosis
Viernes, 24 de Agosto de 2007 00:00

Hoy día recibí a un paciente uniformado... un policía del Estado de Pennsylvania. Vino con su esposa.  Ambos vinieron para un examen visual de cada dos años.

Al inicio creí que venia a buscar a alguien, pero pensándolo bien me he portado bien ... últimamente !

Durante el examen de dijo que era un "carrier" de Hemochromatosis.  Felizmente que ya he tenido varios pacientes con esto y había leído sobre el asunto. Pensé que seria interesante presentarlo al grupo de amigos.

What is hemochromatosis?

Hemochromatosis is the most common form of iron overload disease. It is one of the most common genetic diseases in the United States. Primary hemochromatosis, also called hereditary hemochromatosis, is an inherited disease. Secondary hemochromatosis is caused by anemia, alcoholism, and other disorders.

Juvenile hemochromatosis and neonatal hemochromatosis are two additional forms of the disease. Juvenile hemochromatosis leads to severe iron overload and liver and heart disease in adolescents and young adults between the ages of 15 and 30. The neonatal form causes rapid iron buildup in a baby’s liver that can lead to death.

Hemochromatosis causes the body to absorb and store too much iron. The extra iron builds up in the body’s organs and damages them. Without treatment, the disease can cause the liver, heart, and pancreas to fail.

Iron is an essential nutrient found in many foods. The greatest amount is found in red meat and iron-fortified breads and cereals. In the body, iron becomes part of hemoglobin, a molecule in the blood that transports oxygen from the lungs to all body tissues.

Healthy people usually absorb about 10 percent of the iron contained in the food they eat, which meets normal dietary requirements. People with hemochromatosis absorb up to 30 percent of iron. Over time, they absorb and retain between five to 20 times more iron than the body needs.
Because the body has no natural way to rid itself of the excess iron, it is stored in body tissues, specifically the liver, heart, and pancreas.

What causes hemochromatosis?

Hereditary hemochromatosis is mainly caused by a defect in a gene called HFE, which helps regulate the amount of iron absorbed from food. The two known mutations of HFE are C282Y and H63D. C282Y is the most important. In people who inherit C282Y from both parents, the body absorbs too much iron and hemochromatosis can result. Those who inherit the defective gene from only one parent are carriers for the disease but usually do not develop it; however, they still may have higher than average iron absorption. Neither juvenile hemochromatosis nor neonatal hemochromatosis are caused by an HFE defect. Juvenile and neonatal hemochromatosis are caused by a mutation in a gene called hemojuvelin.

The most common treatment is to remove some blood, just like when you donate blood. This is called therapeutic phlebotomy. Medicines may also help remove the extra iron. Your doctor might suggest some changes in your diet.

Aparte no deben ingerir hierro ni suplementos de vitamina C.

Esta condición no es muy frecuente en Africa, Asia ni entre latinos/hispanos.

Buenas Noches,

LL

Luis W. Lu, MD
Senior Partner, Pennsylvania Eye Consultants
Director, The Eye Clinic
Chief of Ophthalmology, Regional ASC
Instructor, University of Pittsburgh School of Medicine