Alex Ortega Loayza, M.D., M.C.R., interim chair and associate professor of dermatology at Oregon Health & Science University, has made significant strides in studying rare dermatological conditions, including pioneering work on pyoderma gangrenosum — a rare and often misdiagnosed chronic skin disorder that causes deep, painful ulcers -- that has made him a leader worldwide on this debilitating disease.
Originally from Peru, his journey into the world of dermatology and immunology was shaped by his personal experiences, the mentorship he received and his drive to address the challenges faced by patients suffering from rare skin diseases.
From Peru to the U.S. — a focus on rare dermatological diseases
Ortega's passion for dermatology was sparked during medical school in Peru, where he studied endemic pemphigus foliaceus — the only known autoimmune disease that is also endemic — characterized by painful blisters, especially common in people living in the jungle.
"I saw people ostracized and isolated because they thought they were contagious," he said.
This disease, which causes patients to feel as though they are "on fire" due to the burning sensation caused by skin lesions, inspired his drive to understand the disease and find ways to improve the lives of those affected.
One of his mentors from Peru and chair emeritus of University of North Carolina Dermatology, Luis Diaz, M.D., a prominent figure in the study of endemic pemphigus, introduced him to leading-edge research on rare skin diseases.
"Diaz gave me the opportunity to expand my research and really think about how these rare diseases affect people," Ortega said.
Building foundations in dermatology and immunology
Ortega's path took him to Virginia Commonwealth University, where he pursued a combined residency in internal medicine and dermatology. During his time there, with mentorship from another dermatologist, Julia Nunley, M.D., he began to delve into the complexities of diseases that involved both the immune system and the skin. One condition that stood out to him was pyoderma gangrenosum, or PG. There is not a cure, or even an approved drug therapy, for PG.
"I started seeing these patients with large skin ulcers and I wanted to understand why this was happening," Ortega said. "I asked myself, 'Why do we not have better answers?'"
After collaborating with basic scientists specializing in neutrophil biology, the study of a type of white blood cells, and immunology, he co-authored a pivotal review paper in 2015 that would become foundational in PG research.
"That was my first paper as a faculty member," he said. "It's been cited over 300 times, and it helped me understand the development of PG."
In addition to the intellectual challenge, PG offered a unique intersection of immunology, wound care and dermatology — fields that are often studied separately, despite their close connection in conditions like PG.
"The way your immune system can cause ulcers like that was striking to me," he said "It was a perfect intersection of all these three fields. And it led me to really dive deeper into the mechanisms behind PG," he explained.
Overcoming diagnostic challenges
Ortega came to OHSU in 2016 after meeting Nicole Fett, M.D., an OHSU dermatologist who specializes in autoimmune disorders. He wanted a place where he could grow his research on PG and other rare skin diseases and continue his clinical work. At OHSU, he assembled a team of basic scientists, biostatisticians and clinicians to form the pyoderma gangrenosum study team, or PYGAS.
One of the main challenges Ortega and his colleagues face in treating PG is the lack of a definitive diagnostic test. While other rare diseases, like pemphigus vulgaris, can be identified through immunological tests and skin biopsies, PG lacks specific markers.
"For PG, the skin biopsy is nonspecific," Ortega said. "There is no objective test that can definitively tell us if a patient has PG. This has been a significant hurdle in both diagnosing and researching the condition."
To address this issue, Ortega's team has started experimenting with high-frequency ultrasound and other forms of imaging.
"We've begun using high-frequency ultrasound to visualize PG when it's active and differentiate it from other conditions like skin cancer," he said. "It's a noninvasive, point-of-care testing method that might help clinicians diagnose PG more accurately in the future."
Ortega is not only focused on understanding PG but also on developing effective treatments. Despite its devastating impact, there are currently no FDA-approved medications for PG.
"I feel fortunate to be part of two steering committees of clinical trials that are leading us toward FDA-approved medications in the next few years," he said, adding that he is involved in two groundbreaking phase 3 clinical trials: one testing a complement 5a inhibitor and the other an interleukin 36 inhibitor, both of which target the immune system's response to PG.
His dedication to improving treatments led him to become an NIH-funded investigator and co-founder of the Pyoderma Gangrenosum Group for the CHORD COUSIN Collaboration, a global research organization focused on advancing outcome measurements for skin conditions. He has been sponsored by the Medical Dermatology Society and American Academy of Dermatology to develop consensus guidelines to treat PG patients.
"Five years ago, there were no standardized ways to measure success in PG treatment," he said. "Now, with this international group, we're developing clear outcome measures that can guide industry investment in PG treatments."
A holistic approach to healing
For Ortega, being a physician is not just about treating the physical symptoms of a disease; it's also about offering emotional and psychological support to his patients. He has patients who travel from as far away as Alaska and Georgia for diagnosis and treatment. Patients who end up in his clinic often have been misdiagnosed multiple times and have ended up in the emergency room or urgent care.
"I see these patients who have been suffering, sometimes for years, and I know that I am often the last stop for them," he said. "It's not just about the physical healing; it's also about providing hope that they can heal, and that they are not alone in their journey."
He takes a holistic approach to patient care, wound care and pain management, often addressing mental health, nutrition and well-being alongside medical treatment.
"When I treat my patients, I try to understand the person as a whole," he said. "Physical healing is important but so is helping them find peace and hope in their journey."
Ortega is focused on advancing his research and continuing to improve the lives of his patients. With his involvement in international collaborations, clinical trials and groundbreaking research, he is making lasting contributions to the fields of dermatology, wound care and immunology. His hope is that diseases such as PG will not be as widely misdiagnosed in the future, and there will be effective treatment options soon.
"I've been lucky to have supportive mentors, collaborators, team members and my own family who have stood by me through this journey," he said. "We've been able to make real progress for patients suffering from rare diseases, and we will continue to push for better treatments, better diagnoses, and better care."
