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Ski champ Randall faces a genetic threat

Randall has disorder that increases risk of blood clots

The mysterious blood clot that two weeks ago threatened the life of World Cup champion skier Kikkan Randall of Anchorage may be hereditary, doctors reported Thursday.

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Tests of Randall's DNA -- a precautionary step while being treated for a large clot in a major vein in her left leg -- indicate the 25-year-old Olympic athlete has Factor V Leiden, or FVL, a genetic disorder that increases the risk of dangerous clotting in the blood system.

While the condition is not rare -- 5 percent of white Americans carry at least one of the defective genes -- it is serious, placing people with the most common form of FVL at seven times the risk for developing a life-threatening clot known as deep vein thrombosis, or DVT.

Randall underwent surgery for DVT in Anchorage last week to remove the residue of a clot before it could break loose and float to her lungs, resulting in a pulmonary embolism, a sometimes fatal blockage. Women with FVL also run a higher risk of clotting during pregnancy and miscarriage.

Waiting for the results, Randall worried about being diagnosed as genetically clot-prone. "If that's the case," she said, "I could be on blood thinners the rest of my life."

Some of the side-effects of Coumadin, the anti-coagulant she's currently taking to treat DVT, include fatigue and longer recovery times from cuts and bruises. That could dramatically affect her skiing career, which has soared over the past three seasons -- from a top-10 finish in the 2006 Winter Games in Italy to the first-ever World Cup victory by an American woman in cross-country skiing.

"I was on top of the world, feeling great, racing fast, just as happy as could be," Randall said Monday, convalescing in her East Anchorage home near the foothills of the Chugach. "Then, in an instant ... it changed."

A POSSIBLE CAUSE

Ever since the ache in her leg first became pronounced toward the start of a race in Fairbanks late last month, Randall's doctors have puzzled over what might have caused her blood clot.

Besides a hereditary factor, other possible explanations include extensive plane travel in cramped conditions and certain contraceptives.

Since November, Randall said, she's been using NuvaRing, an estrogen-based birth control that increases the risk for blood clots, stroke and heart attacks. Randall said she wasn't aware of those risks when her doctor prescribed it.

Now she finds it alarming that one study found women with Factor V Leiden who use estrogen-based contraceptives have a 35-times greater risk of developing a DVT.

"It's kind of surprising that they don't screen you for this kind of thing before putting you on birth control," she said. "Apparently it's a pretty easy blood test to do."

BLOOD-DOPING TESTS

A fourth explanation for the clot could be thick blood, dense in red cells, evidenced by high hemoglobin levels.

Athletes who dope their blood to artificially raise their level of hemoglobin -- the protein in red blood cells that carries oxygen to the muscles -- significantly increase their risk of blood clotting, strokes and heart attacks, according to the U.S. Anti-Doping Agency.

Randall is adamant that she's never blood-doped and doesn't cheat.

She's been tested repeatedly this season by USADA, and her results have always been negative, Randall said Monday during the interview in her home.

In the past three weeks alone, Randall said, she's been tested twice -- once by USADA during her last competition in Canada, and more recently by her doctor at Providence.

Results of the hospital test -- issued by the office of Dr. Erik Maurer and dated April 2 -- show that her hemoglobin level, at 13.3 grams per deciliter of blood, was well within the normal range of 11.7 grams to 15.7 grams for women.

Randall said she's never shied away from a USADA blood check. "They're always welcome to come and test me," she said. "It gives me a chance to prove that I'm honest and I'm clean."

OLYMPIC ACTION

Two years ago, however, Randall briefly made national headlines when she and 11 other Olympic skiers were temporarily grounded from the Winter Games for testing high for hemoglobin. International Ski Federation officials who administered the test stressed that the five-day suspension was health-related only -- some of the athletes were simply dehydrated -- and did not constitute a failed drug test.

"If the athletes are clean, their hemoglobin levels should return to normal by the second test," one Olympic official told the Associated Press.

Randall's blood count fell accordingly, and she was allowed to compete. Since then she's been monitored more closely by anti-doping agencies, partly due to her steadily improving performances in World Cup races.

According to USADA records posted online, Randall averaged one drug test a year in the five years preceding the 2006 Olympics. Since then USADA has tested her 10 times. The exams occurred both in competition and at random, when Randall least expected them.

"I've been at dinner parties and gotten a call and they say USADA is here ready to test you," she said. "You never know. They can show up any place, any time."

One such visit occurred three weeks ago inside her hotel room in Callaghan Valley, British Columbia, just prior to racing in the Canadian National Championships. After the test, Randall won the 1.2-kilometer freestyle sprint, bettering the defending Olympic gold and silver medalists along the way.

Five days later -- after flying home to Anchorage and driving to Fairbanks for the U.S. Cross Country Distance Championships -- the initial symptoms of the blood clot in her leg began, prompting Randall to check into the emergency room at Fairbanks Memorial.

HIGH HEMOGLOBIN

Though her hemoglobin levels during her hospitalization were average, they're usually higher than average, Randall said.

She knows this from the base-line data that anti-doping officials have established from her tests -- at altitude, at sea level, before travel, after travel.

Some athletes are geneticallypredisposed to thick blood through no fault of their own, according to Dr. Don Catlin, founder of the UCLA Olympic Laboratory and a longtime expert on substance abuse by athletes.

"There are people who have predilections to it," Catlin said in an interview.

Randall suspects she's one of them -- and now the results from her DNA test might explain why.

But she won't know any of the details about her particular type of Factor V Leiden -- or how that might affect her skiing career -- until she speaks with a blood expert on Monday, Randall said.

"We're going to have to wait and see."


Find George Bryson online at adn.com/contact/gbryson or call 257-4318.


What is FVL?

Factor V Leiden is a blood-clotting disorder resulting from a gene mutation. Allows overproduction of an enzyme that leads to excess clotting. Clots can break off, travel through the heart to the lung and cause a pulmonary embolism.

It is the most common inherited abnormality among the blood clotting disorders, affecting about 5 percent to 7 percent of the Caucasian population of European descent in the U.S.

Source: American Heart Association, National Institute for Health Medline Plus

Randall's career highlights

First American woman to win a World Cup cross-country race, taking the sprint event at Rybinsk (Russia) in December 2007.

2007 World Cup -- Rybinsk sprint, third place.

Two-time Olympian in 2002 and 2006. Ninth-place finish in sprint at 2006 Winter Games -- the best-ever finish by an American woman nordic skier.

Multiple National Championships: 2007 (1.4-K classic sprint), 2006 (5-K skate, 10-K classic, 1.3-K skate sprint), 2004 (sprint), 2003 (skate sprint), 2002 (sprint)

2001 World Junior Nordic Championships: sixth in women's sprint

Member of U.S. World Championships team 2001, 2003, 2005

Seven-time Alaska high school track champion (at 800 meters, 1600 meters, 3200 meters)

Three-time Alaska high school cross-country champion

Seven times U.S. Junior National cross-country ski champion

Two-time Daily News Prep Athlete of the Year (2000, 2001)

Three-time U.S. World Championships team member (2001, 2003, 2005)

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