Medical Mystery of the Week
Because of the COVID19 pandemic, you are practicing telemedicine. Your patient is a 35-year-old woman whose main complaint is sinus pain and congestion accompanied by an intermittent bloody nasal discharge. She has run low-grade fever and notes an occassional nonproductive cough. You are told by her primary care physician that she has microhematuria. Her image and chest x-ray are shown below. What is your diagnosis, what test(s) would you order to confirm your suspicions, and what treatment, if any, do you recommend?
DIAGNOSIS: Polyangiitis with granulomatosis (Wegener's granulomatosis) (PGA) with destruction of the nasal septum leading to a "saddle nose" deformity.
PGA occcurs in all age groups (mean age ∼ 44) and equally in men and women. The incidence is ∼ 5/100,000 persons. It is a type C anti-neutrophil cytoplasmic antibody (ANCA)-associated necrotizing granuilomatous vasculitis involving small and medium-sized vessels. The commonest areas to be involved are the upper airway (70-100%), lower airway (70-80%) and kidneys (60-70%).The pleitropic manifestations of PGA are shown below. Initial treatment of PGA consists of glucocorticoids and cyclophosphamide, but relapse is common, and the 10-year survival rate is estimated at 40% in patients with renal involvement.
Clinical/pathological manifestations of PGA
- General: malaise, myalgia, arthralgia, anorexia, weight loss, pyrexia.
- Skinleukocytoclastic vasculitis, digital infarcts, cutaneous ulcers, gangrene.
- Oral cavity: oral ulcers, palatal perforation, gingival hyperplasia.
- Eyes: episcleritis, scleritis, conjunctivitis, keratitis, uveitis, retinal vasculitis, retinal artery or retinal vein thrombosis.
- Nose and paranasal sinuses: persistent-recurrent nasal discharge, epistaxis, crusting, septal perforation, granulolmatous sinusitis.
- Ears: serous otitis, mastoiditis, conductive hearing loss.
- Upper airway: subglottic or tracheal stenosis.
- Lower airway: cough, dyspnea, wheezing, nodules, cavitary nodules, pleuritis, pleural effusions, pulmonary infiltrates, pulmonary hemorrhage, alveolar capillaritis, respiratory failure.
- Cardiovascular: small vessel vasculitis, pericarditis, pericardial effusions, cardiomyopathy, valvular heart disease, ischemic heart disease, heart failure.
- Gastrointestinal: abdominal pain, mesenteric vasculitis.
- Kidney: diffuse pauci-immune concentric necrotizing glomerulonephritis, hematuria, proteinuria, cellular casts, renal failure.
- Nervous system: headache, meningitis, seizures, CVAs, spinal cord lesions, cranial nerve palsies, peripheral neuropathy, mononeuritis multiplex, sensineuronal hearing loss, cerebral mass lesions.
- Musculoskeletal: arthralgias, myalgias, arthritis.