Skin, Lung, Nervous System Issues Lead to Man’s EGPA Diagnosis

25-year-old man had chronic rhinitis and asthma for 5 years

Patricia Valerio, PhD avatar

by Patricia Valerio, PhD |

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A 25-year-old man was diagnosed with eosinophilic granulomatosis with polyangiitis (EGPA) after going to an outpatient clinic with joint pain and numbness in the hands and legs, according to a case study.

He received treatment with corticosteroids and immunosuppressants, which stopped the EGPA progression and eased peripheral nerve damage and joint pain. Peripheral nerves are outside the brain and spinal cord and play a key role in controlling movements and sensation.

“Earlier diagnosis and prompt evaluation of the stage of the disease are key to treatment,” the researchers wrote.

The study, “ANCA-Negative EGPA With Pulmonary, Cutaneous, and Neurological Manifestations in a 25-Year-Old Male: A Case Report,” was published in Cureus

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EGPA Patient and Doctor Differences in Disease Reporting Noted

EGPA is a type of ANCA-associated vasculitis (AAV) that mainly affects small- and medium-sized blood vessels. It’s an extremely rare and progressive disease that typically affects multiple tissues and organs.

A feature of EGPA is the presence of eosinophilia (high numbers of eosinophils) and necrotizing vasculitis (inflammation of the blood vessel walls) with eosinophilic-caused granulomas, or clumps of the immune cells that create tiny nodules, outside vessels. Eosinophils are a type of white blood cell that helps protect the body from parasites, bacteria, and other disease-causing organisms.

Patients usually have a history of chronic asthma, rhinitis, sinusitis, otitis, nasal obstruction, and nasal polyps. Anti-neutrophilic cytoplasmic autoantibody (ANCAs) ­— self-reactive antibodies that attach to another type of white blood cell called neutrophils and wrongly activate them — are not found in most EGPA patients, unlike other forms of AAV.

Lead-up to a diagnosis of EGPA

A report from Pakistan described the case of a 25-year-old man who consulted an outpatient clinic complaining of severe pain in his hands and hip joints. The man also reported numbness in his hands and legs for the past two months.

For the last five years, he had a history of chronic rhinitis and asthma and underwent surgery to remove nasal polyps the year before. He was being treated with a montelukast and salbutamol inhaler for asthma and an antihistamine for allergy symptoms.

A rash with flat or raised red bumps on the skin of his palms and soles was observed during a physical evaluation. Raynaud’s phenomenon, wherein the fingers and toes can change color due to excessive blood vessel constriction, was found in his hands and feet.

Laboratory tests also showed he had an excessive number of white blood cells, eosinophils, neutrophils, and platelets. The erythrocyte sedimentation rate — a blood parameter that measures how quickly red blood cells settle to the bottom of a test tube and is often used as an inflammatory marker — was also elevated.

The man’s total cholesterol levels were also abnormally high, as were the levels of aspartate transaminase and globulin. Aspartate transaminase is an enzyme that’s released to the bloodstream when the liver is damaged and globulin is a protein that plays an important role in liver function.

An X-ray of the lungs showed infiltrations and other abnormalities. A CT scan also showed ground-glass nodules present along the blood vessels that supply the bronchi, the lungs’ main airways.

Antibody tests came back negative, including the ones for ANCAs, with the exception of those for anti-nuclear antibodies (ANAs), which were positive. ANAs typically signal the presence of an autoimmune disorder.

Rheumatoid factor — a protein produced by the immune system that can attack healthy tissues in the body — was also present.

At this stage, “the rheumatology department was consulted and a differential diagnosis of undifferentiated connective tissue disorder (UDCTD) and EGPA was established,” the research team wrote.

A biopsy of skin lesions also showed intense eosinophilia with granulomas.

Challenges with EGPA treatment

Test results were consistent with an EGPA diagnosis. The patient was then started on a treatment regimen of 20 mg of the corticosteroid prednisone, 10 mg of the immunosuppressant methotrexate, 5 mg of folic acid (vitamin B9), 10 mg of montelukast, and 200 mg of hydroxychloroquine sulfate, an anti-rheumatic medicine.

“Peripheral [nerve damage] and [joint pain] resolved within one month of treatment. Labs were repeated six months later showing a significant decrease in [white blood cell] count and peripheral blood eosinophilia,” the researchers wrote.

Since EGPA is a systemic condition that can manifest in different ways, identifying it in a standardized way for a diagnosis is challenging, causing a somewhat variable prognosis. But, “patients who test negative for ANCA are younger at diagnosis, suffer from persistent asthma, and have cardiac involvement,” the researchers wrote.

“Corticosteroids, immunosuppressants, and monoclonal antibodies are effective in preventing this disease from progression, sometimes even leading to remission,” they wrote.