Case Study: Making the VEXAS Diagnosis (Video)

Patient’s symptoms included periorbital edema, fevers, weight loss

A rare and sometimes fatal condition that was discovered as recently at 2020 can cause a constellation of symptoms so common that it can be difficult to home in on an accurate diagnosis.

In a recent video case study, Cleveland Clinic rheumatologist Adam Brown, MD, describes the case of a 71-year-old man who first sought help for symptoms that included fevers, night sweats and rash along with a 30-pound weight loss over three months. Periorbital edema — first unilateral and then progressing to bilateral — also was present. During examination, he was found to have low white blood count, low ANC, low hemoglobin with elevated mean corpuscular volume, but normal platelets.

Advertisement

Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy

He had neutrophilic dermatosis of his upper back. A CT scan of his chest, abdomen and pelvis revealed splenomegaly. A bone marrow biopsy revealed hyper cellularity.

“From the rheumatology perspective, when we have periorbital edema, the differential’s fairly narrow: Is it infection? Is it malignancy?” says Dr. Brown. “If those are ruled out, then the concern is something that can add tissue from rheumatologic perspective, which is actually not very broad.”

The patient was given high-dose steroids and felt better. The fever and both resolved, and cytopenias improved. He still didn’t have a diagnosis, however, and during tapering of prednisone after he left the hospital, a new symptom appeared: ear swelling, pain and redness.

Advertisement

The patient finally sought care at Cleveland Clinic, where clinicians diagnosed him with VEXAS — short for “vacuoles, E1 enzyme, X-linked, autoimmune, somatic mutation syndrome.” The condition was identified in 2020. The UBA1 gene is implicated in the condition, which is tends to affect patients 70 or older and more men than women.

To learn more, listen to Dr. Brown’s video case presentation.

Related Articles

Medical illustration of hand with discolored fingers
Coexistence of Erythromelalgia and Raynaud’s Phenomenon

Treatment strategies require understanding of pathomechanisms

Squamous cell skin cancer
Skin Cancer Risk in Immunosuppressed Patients

Education, prevention strategies and monitoring serves this at-risk group

esophageal plaques
Esophageal Plaques and Systemic Sclerosis

Treatment for scleroderma can sometimes cause esophageal symptoms

Lupus clinic
Coordinated Care, Education and Research

Lupus Clinic providers collaborate to advance treatment and understanding

Sjogren's Syndrome medical illustration
Case: Getting to the Root of Neuropathic Symptoms

Collaboration was key to identifying source of nerve condition

Middle-aged Black woman talks with doctor
Emerging Treatments for Systemic Lupus Erythematosus

A review of expanding options that hold new promise

Ad