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Porphyria cutanea tarda

Porphyria cutanea tarda is the most common type of porphyria. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood. Porphyria cutanea tarda is a subtype of porphyria. more...

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When signs and symptoms occur, they usually begin in adulthood and result from the skin becoming overly sensitive to sunlight. Areas of skin exposed to the sun develop severe blistering, scarring, changes in pigmentation, and increased hair growth. Exposed skin becomes fragile and is easily damaged. People with porphyria cutanea tarda also have increased iron levels in the liver. They face a higher risk of developing abnormal liver function and liver cancer. The signs and symptoms of this condition are triggered by nongenetic factors such as alcohol abuse, excess iron, certain hormones, and viral infections.

Epidemiology

This type of porphyria occurs in an estimated 1 in 25,000 people, including both inherited and sporadic (noninherited) cases. An estimated 80 % of porphyria cutanea tarda cases are sporadic. The exact frequency is not clear because many people with the condition never experience symptoms.

Genetics

Inherited mutations in the UROD gene cause about 20 % of cases. (The other 80 % of cases do not have mutations in UROD, and are classified as sporadic.) UROD makes an enzyme called uroporphyrinogen decarboxylase, which is critical to the chemical process that leads to heme production. The activity of this enzyme is usually reduced by 50 % in all tissues in people with the inherited form of the condition.

Nongenetic factors such as alcohol abuse, excess iron, and others listed above can increase the demand for heme and the enzymes required to make heme. The combination of this increased demand and reduced activity of uroporphyrinogen decarboxylase disrupts heme production and allows byproducts of the process to accumulate in the body, triggering the signs and symptoms of porphyria cutanea tarda.

The HFE gene makes a protein that helps cells regulate the absorption of iron from the digestive tract and into the cells of the body. Certain mutations in the HFE gene cause hemochromatosis (an iron overload disorder). People who have these mutations are also at an increased risk of developing porphyria cutanea tarda.

In the 20% of cases where porphyria cutanea tarda is inherited, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to decrease enzyme activity and cause the signs and symptoms of the disorder.

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Agent Orange: legacy of disability
From DAV Magazine, 1/1/05 by Thom Wilborn

Soldiers who served in Vietnam tell of the red liquid dripping from jungle leaves they brushed by while on patrol. Sometimes their uniforms would be soaked with the stuff. Today, the reddish-brown liquid known as Agent Orange used to defoliate trees and remove jungle cover from the enemy in Vietnam is responsible for a wide range of illnesses, causing disability and death to thousands of veterans.

"An estimated 21 million gallons of Agent Orange and other herbicides were sprayed Over South Vietnam and Cambodia between January 1965 and April 1970," said National Service Director Randy Reese. "The Department of Veterans Affairs estimates that 2.6 million U.S. military personnel were affected, causing disabling and life-threatening illnesses that still are not fully understood."

Some Vietnam veterans reported a variety of health problems soon after returning from the war, and others are just now experiencing the ill effects of their exposure. Agent Orange was a 50:50 mixture of 2,4,5-trichlorophenoxyacetic acid (2,4,5-T) and 2,4-dichlorophenoxyacetic acid (2,4-D). At the time it was sprayed, 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) was an unintended contaminant from the production of 2,4,5-T, and was present in Agent Orange and other formulations sprayed in Vietnam. Dioxin is one the deadliest cancer-causing chemicals known.

Skeptical federal authorities acknowledged a possible problem in 1979, when the VA offered Vietnam veterans special access to health care and launched a nearly endless series of Studies by beginning the Agent Orange Registry Examination Program. It was a medical surveillance program tracking Vietnam veterans' health concerns. In 2003, after 25 years, the VA lead examined 334,000 of 3.4 million veterans who served in Vietnam and maintains a computer database to track their health concerns.

The VA's Advisory Committee on Health-Related Effects of Herbicides was established in 1979 to examine issues surrounding the possible health effects of herbicides on Vietnam veterans. The VA also established the Veterans' Advisory Committee on Environmental Hazards, consisting of non-VA experts in dioxin and radiation exposure and lay members, to advise on the results of Agent Orange-related research and regulatory, administrative, and legislative initiatives. A Federal law passed in 1991 directed the VA to request that the National Academy of Sciences (NAS) review diseases associated with herbicide exposure, a move that superseded the Advisory Committee's work.

The NAS reviewed more than 6,000 abstracts of scientific or medical articles and analyzed 230 long-term studies before making its initial report in July 1993, which led to presumptive service-connection for several health problems among veterans.

Today, the list of presumptive service-connected health problems caused by exposure to Agent Orange and other herbicides includes chloracne (a skin disease), Hodgkin's disease, multiple mycloma to (a cancer of the blood cells), non-Hodgkin's lymphoma, porphyria cutanea tarda (a skin disease caused by a defective liver enzyme), respiratory cancers (lung, bronchus, larynx, and trachea), soft-tissue sarcoma (cancer of the muscles and tendons), acute and subacute peripheral neuropathy (weakening of the nervous system), prostate cancer, chronic lymphocytic leukemia, and adult-onset (Type 2) diabetes.

In addition, the VA offers monetary benefits, health care, and vocational rehabilitation to the children of Vietnam veterans who suffer from spins bifida, a congenital birth defect of the spine.

The widespread use of Agent Orange makes presumptive service-connection for these health problems simple, all military personnel who served in Vietnam are considered to have been exposed to Agent Orange. The VA estimates that 10,000 Vietnam veterans have been disabled because of illnesses caused by exposure to Agent Orange and other herbicides used during the war. And officials estimate that more than 178,000 of the 2.6 million living Vietnam veterans might qualify for disability compensation and health care.

The progress of Agent Orange research has been slow and incremental," said Reese. "Large-scale research should continue to study the health problems of Vietnam veterans. Vietnam veterans are dying from diseases that today are not considered service-connected, but may someday be considered presumptive.

"Any Vietnam veterans who suspect they have been diagnosed with any of these diseases should contact their nearest DAV National Service Office to file a claim for benefits." he said. "Our National Service Officers are ready to offer their outstanding free professional services to help veterans apply for and receive compensation and health care for the diseases associated with Agent Orange and other herbicide contamination."

Meanwhile many questions remain about Agent Orange and other herbicide contamination. House Veterans' Affairs Committee ranking number. Rep. Lane Evans (D-Ill.) asked the Department of Defense (DoD) about potential Agent Orange and other herbicide contamination of U. S. service members in Guam, Cambodia, Laos, Thailand, Puerto Rico, and several sites in the United States during the Vietnam years. Evans provided DoD with a report finding dioxin contamination in the soil at Anderson Air Force Base in Yigo, Guam.

Principal Assistant Deputy Under Secretary of Defense for Installations and Environment Philip W. Grone said DoD had no record of the use, storage, or testing of Agents Orange, Blue, or white on Guam, although other herbicides may have passed through Guam during the Vietnam War. Grone said the dioxin found at the Guam base may have been associated with burned material. The site is today, however, highly restricted. A summary provided by Grone listed 48 reported uses of chemical herbicides at sites in the United States and overseas.

Meanwhile, it was reported to Rep. Evans that nearly 250,000 pounds of Agent Orange accidentally spilled on Johnson Island in 1972 when about 1.1 million gallons of unused Agent Orange was brought there from Vietnam. An estimated 49,000 gallons of Agent Orange is estimated to have leaked annually from the drums at the Johnston Island storage site. The VA has consistently denied Agent Orange claims from veterans who served on Johnston Island from 1971 to 1977, unless they were directly involved in the handling of the herbicide.

Another area of questioned exposure to Agent Orange and other herbicides is Korea. The DoD says that some military personnel were exposed to chemical herbicides in the Korean Demilitarized Zone.

"It is more than 30 years since many of the herbicides were used, yet veterans are still having claims denied because of the lack of information concerning where veterans may have been exposed," said Evans. "It is well past the time for full and open disclosure."

"Agent Orange has been a Pandora's box for Vietnam veterans," said Reese. "The more that is learned about herbicide contamination, the more we find it affects the health of our veterans. Even though the fighting ended 30 year's ago, the causalities from the Vietnam War continue to mount. It is our duty to offer the best DAV services to help those veterans and their families."

* Today, the list of presumptive service-connected health problems caused by exposure to Agent Orange and other herbicides includes chloracne (a skin disease), Hodgkin's disease, multiple myeloma (a cancer of the blood cells), non-Hodgkin's lymphoma, porphyria cutanea tarda (a skin disease caused by a defective liver enzyme), respiratory cancers (lung, bronchus, larynx, and trachea), soft-tissue sarcoma (cancer of the muscles and tendons), acute and subacute peripheral neuropathy (weakening of the nervous system), prostate cancer, chronic lymphocytic leukemia, and adult-onset (Type 2) diabetes.

COPYRIGHT 2005 Disabled American Veterans
COPYRIGHT 2005 Gale Group

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