For immediate release: Feb. 7, 2007
GALVESTON, Texas -Porphyrias haven't captured the imagination of many young medical researchers. This is because support to train porphyria experts has been lacking. That's not a good thing for those who suffer from the rare and often painful disorders. Patients with any rare disease need expert physicians whom they can consult on the best available approaches to diagnose and treat them.
Dr. Karl Anderson, a professor and director of the Division of Human Nutrition at the University of Texas Medical Branch at Galveston, fears that without financial support there will be little if any porphyria expertise remaining in the United States in just a few years.
"The few experts nationally are all of the same generation and getting long in the tooth and younger specialists are not being trained," he laments. Anderson, who heads the Porphyria Center at UTMB, is one of the world's leading authorities on porphyrias.
Which is why he's excited about a grant he received through the American Porphyria Foundation "Protecting Our Future" campaign. The $40,000 grant, spread over two years, helped Anderson introduce Dr. Gagan Sood to the disease. Sood, a gastroenterologist and hepatologist, is the first doctor selected for funding by the campaign.
"The American Porphyria Foundation is concerned about the paucity of young physician-scientists interested in porphyrias, and is concerned that expert clinicians will not be available to patients with porphyrias in the future," Anderson said. To raise public awareness of porphyrias, APF is sponsoring National Porphyria Week, Feb. 18-24.
"Dr. Anderson serves as an expert not only to Texas, but to the whole nation," Sood said. "His referral base, clinic and lab are a good repertoire to learn about the management of this rare disorder. With this training, I will be able to provide specialized care to these patients and hopefully fill the vacuum of availability of limited specialists."
Desiree Lyon Howe, executive director of the APF, said, "Dr Anderson has conducted the most important clinical research on porphyria in the last decade. Most recently, Dr. Anderson and his colleagues conducted the research on Porphozym, an enzyme replacement developed by Zymenex, a company in Denmark, which specializes in niche treatment."
UTMB has the only university laboratory in the United States that provides reliable diagnostic testing for the disease. Anderson is hopeful that other donors will help maintain a porphyria center at UTMB. He notes that in Europe, each country has at least one lab and specialized clinic that focuses on porphyria.
There are at least eight disorders classified as porphyrias, which affect the nervous system or skin. Symptoms such as abdominal pain, vomiting, depression and seizures make them difficult to diagnose since the symptoms are common to many diseases. Drugs, chemicals, foods and sunlight may trigger the symptoms depending on the type of porphyria.
Since symptoms do not necessarily point to porphyrias, diagnosis is through tests on blood, urine and stool. After an accurate diagnosis, the patient and physician can select specific and effective treatment. Patients may also participate in research leading to new knowledge and treatments. UTMB is building a repository of data and samples on patients for both current and future research.
"Many medical centers send tests to large commercial labs that return results that are difficult to interpret and may lead to a wrong diagnosis," Anderson said. The UTMB lab can advise what tests should be done, depending on the type of porphyria suspected, and provides an expert interpretation of the results.
In addition to Anderson and Sood, Csilla Hallberg and Chul Lee are part of the diagnostic and research team at the UTMB Porphyria Center. Their research is accomplished through UTMB's General Clinical Research Center.
Howe believes that Anderson and his UTMB colleagues are critical to the future of porphyria sufferers throughout the country. "This (grant) was established to attract and train the next generation of doctors and future specialists in the field of porphyria," she said. "Without doctors like Dr. Anderson who can train younger physicians like Dr. Sood, we run the risk of losing knowledge of the disease, quality testing, diagnosis, treatment and ultimately a cure."
The University of Texas Medical Branch at Galveston
Public Affairs Office
301 University Boulevard, Suite 3.102
Galveston, Texas 77555-0144