A 47-year-old woman presented to our facility. Over four months, she had suffered an inexorable decline and multiple hospitalizations with fruitless searches for a diagnosis. She had right-sided Bell’s palsy, progressive right-sided weakness, mastoiditis, vocal cord paralysis requiring intubation and tracheostomy, and severe dysphagia requiring a PEG tube. All work up was negative including imaging and cerebrospinal fluid studies. She failed empiric treatment for myasthenia gravis prior to transfer to us. Further history we obtained included an unintentional 50 lb weight loss, progressive hearing loss, blurry vision, headaches, nosebleeds, and persistent nausea despite a PEG tube. On exam, she was tachycardic to 120s, had bilateral episcleritis, extensive crusting and erythema of the nasal mucosa, severe hearing loss, right-sided facial palsy, dysarthria, and 4/5 strength of right arm and leg with intact sensation. Her left ear pinna revealed a discrete area of marked tenderness and erythema she had not noticed before. Labs showed WBC 26K, anemia, platelets 1.2 million, CRP >300, and ESR >50.
Initially, we suspected relapsing polychondritis (RPC) as she met McAdam’s criteria and had ear pinna involvement. Our work-up revealed: + proteinase 3 ANCA; perichondral neutrophilic infiltrates on Left ear biopsy; C-ANCA focal segmental necrotizing glomerulonephritis on kidney biopsy; and multiple solid and cavitary pulmonary nodules on CT chest. The +PR3-ANCA combined with episcleritis, nasal and mastoid involvement, cavitary lung nodules, multiple cranial nerve involvement, and kidney biopsy ultimately led to a diagnosis of granulomatosis with polyangiitis (GPA). She received steroids and cyclophosphamide and dramatically improved, and subsequently went home.
This patient had an unusual presentation of a rare disease. Her symptoms were mostly neurologic and prior evaluation focused on this. She additionally had signs concerning for possible sepsis at the time of arrival despite prior treatment of mastoiditis. Her overall picture suggested a severe systemic inflammatory process. Her episcleritis suggested this along with marked elevation of platelets and ESR/CRP. Her inflamed ear pinna was a clue that narrowed the differential and pointed toward GPA or RPC. GPA and RPC are rare and have some overlapping features. Delay in diagnosis in this case almost led to her death, and she had a dramatic recovery with aggressive immunosuppressive therapy. This highlights the need to recognize these systemic syndromes and the breadth of possible presentations.
- GPA can be difficult to diagnose given many possible manifestations.
- Combined respiratory and renal disease should prompt consideration of GPA.
- Aside from these classic signs, GPA can affect the nervous system, eyes and ears as seen in this case.
- Diagnosis is supported by granulomatous inflammation on biopsy and positive ANCA testing.
- It is very important to expedite the diagnosis and treatment of GPA to prevent death/organ failure.
To cite this abstract:Garza A, Bowling GD. A Race Against Time with Progressive Decline… and the Ear Holds the Key. Abstract published at Hospital Medicine 2016, March 6-9, San Diego, Calif. Abstract 516. Journal of Hospital Medicine. 2016; 11 (suppl 1). https://www.shmabstracts.com/abstract/a-race-against-time-with-progressive-decline-and-the-ear-holds-the-key/. Accessed April 5, 2020.