When you’re living with a rare hematological disease, the journey to a diagnosis can feel exhausting.
Misdiagnoses are common because symptoms of these conditions often mimic more familiar illnesses. Some people spend months or years visiting many doctors, undergoing countless tests, and receiving conflicting answers. This diagnostic uncertainty often leaves patients feeling frustrated, anxious, and without the treatments they need.
The experts at UPMC understand the heavy emotional toll diagnostic uncertainty can cause. We specialize in finding the right diagnoses and treatments for those with complex symptoms who are still searching for answers.
We are one of the country’s highest-volume programs for people with:
Our rare hematological disease services are nationally known. We offer expert evaluation and coordinated care for people with uncommon or difficult-to-diagnose blood conditions, including disorders of:
We specialize in diagnosing and treating rare hematological diseases. These are blood-related diseases that affect fewer than 200,000 people in the United States.
People often come to our program with the results of tests other physicians have run. But they may not have a comprehensive interpretation of the results in the larger context of rare blood diseases.
There are more than 10,000 rare blood diseases. Many have symptoms that overlap or mimic other diseases, both serious and benign. This can make getting a definitive diagnosis difficult.
Diagnostic uncertainty not only delays care but also takes a heavy emotional toll. It can make the search for answers as challenging as the diseases themselves.
Our multidisciplinary team evaluates every case to provide prompt diagnosis, expert advice, and continued support while working closely with referring doctors. Our goal is to ensure every patient receives:
We also offer comprehensive, lifelong care for those with inherited bleeding disorders. We are supported by a full multidisciplinary team, in partnership with the Hemophilia Center of Western Pennsylvania.
Among the rare hematological diseases our experts diagnose and treat are:
If you’ve experienced complex hematological disorder symptoms and seen other physicians without a definitive diagnosis, you may benefit from our program.
Symptoms of hematological disorders can differ, but common signs include:
Diagnosis often begins with a complete blood count (CBC). It may also involve imaging or biopsies.
When you visit UPMC, you can expect to meet with a rare disease specialist and a team of caregivers with experience in complex blood diagnoses.
Members of your team may include a rare disease fellow, a nurse practitioner, and other specialists, as needed. They will take the time to review your test results. They will discuss them with you during a personalized appointment based on your individual needs. The team may order more tests to aid in diagnosis.
Once your team makes a diagnosis, they will explain it to you. This sometimes may mean disproving a diagnosis you may have expected.
Getting a different diagnosis than expected can stir up strong emotions. If this happens, your specialist can refer you to behavioral health supports. They can help you deal with a prior misdiagnosis or the mental health distress from a new diagnosis.
If you do have a rare hematological disease, the team can serve as a central point of care for treating your blood disorder.
We offer:
Our team is nationally recognized for its strengths in transfusion medicine, platelet disorders, and the diagnosis and management of rare hematological diseases.
By UPMC Editorial Staff. Last reviewed on 2026-05-20.
