Rare Type of Albinism Linked to Deadly Lung Disease

Mayra Nieves is used to being ostracized and called names as an albino in this Caribbean community. What she fears is not being able to breathe. Nieves is among hundreds of Puerto Ricans who have a rare type of albinism that leads to a deadly lung disease.

Sufferers such as Nieves, 30, a mother of three, have roughly five years to live once they've been diagnosed with the lung condition, known as pulmonary fibrosis.

The island has the world's highest incidence of this often fatal type of albinism, which was likely brought by a colonizer centuries ago and proliferated as the isolated population intermarried.

Today it is the focus of an experimental drug study at the National Institutes of Health. Researchers aim to minimize lung scarring from the disease that smothers air sacs and prevents oxygen from entering the bloodstream.

Nieves still remembers the day several years ago — before her diagnosis — when she suddenly passed out, gasping for air.

"I almost died," she said. "It was scary. I couldn't talk, but I remember thinking, 'Dear God, let me stay. My daughters need me.' "

Various genetic disorders can lead to albinism, defined by a lack of pigmentation in eyes, skin and hair. But Type 1 of the so-called Hermansky-Pudlak Syndrome is particularly deadly, said Dr. Thomas Markello, who works at the medical genetics branch of the National Institutes of Health. The syndrome, which is rare worldwide, is the leading cause of albinism in Puerto Rico, he said.

An estimated 300 to 500 albinos with the fatal strain live in Puerto Rico's northwest region, the island's largest concentration. NIH estimates that one in every 400 to 2,000 people worldwide carries the gene for the syndrome, compared with one in every 20 Puerto Ricans living in the northwest.

"All patients will need a lung transplant to stay alive unless we succeed in fixing the problem," Markello said.

Nieves flew to an NIH clinic in Bethesda, Md., several times last year for the drug study, which is aimed at people in the earliest stages of the disease. She still has a couple of visits left.

Her mother and father are albinos, and her father suffers from Hermansky-Pudlak. Two of his cousins died from it. Nieves' husband is not albino, nor are her daughters, though all three carry the gene — and the potential for continuing the syndrome.

The albinos scattered across the mountain villages here are often ridiculed. Nieves almost dropped out of school for being called "milk" and other nicknames. People warned their children to stay away from her, fearing they could "catch" her genetic condition. Albinism has even broken up marriages. People who don't know they carry the gene sometimes accuse spouses of cheating when an albino child is born.

If both parents are carriers of the syndrome, children have a 25 percent chance of developing it, said Enid Rivera, the director of epidemiology in Puerto Rico's Health Department.

Most sufferers develop lung problems in their 30s and 40s, but patients as young as 25 and old as 65 have died from the disease, Markello said.

Like Nieves, several dozen Puerto Ricans are taking the experimental drug, pirfenidone, which already has been the subject of 12 U.S. trials involving other ailments, including the scarring of kidneys spurred by diabetes.

Lung function among albino sufferers improved slightly in a previous pirfenidone study. Researchers say they need at least 40 patients for the current one, and they have enrolled about 26 so far.

There's no cost to participating in the drug study, and the known side effects seem to be as mild as heartburn. But scores of afflicted Puerto Ricans have refused. Some believe prayer alone will help, while others mistrust the idea of government research.

"I've had people on the phone praying, saying their faith will get them through," said Donna Appell, who founded the New York-based, Hermansky-Pudlak Syndrome Network and helped establish a Puerto Rican chapter.

German Acevedo, 30, is among the sufferers trying to enlist others.

"OK, they use you, but they might be saving your life," he tells the skeptics.

Lung transplants aren't an alternative for Puerto Rican sufferers, Markello said, mostly because the procedure costs around $300,000 and is not available on the island. Many sufferers do not have insurance. For those 65 and younger, Medicaid is not an option, because it does not cover off-island treatment.

No one keeps records of how many Puerto Ricans have died from the syndrome. NIH researchers suspect many deaths have been wrongly blamed on pneumonia, asthma and lung cancer.