Alpha-1 Antitrypsin Deficiency SZ Phenotype Associated With Necrotizing Panniculitis and Ground Glass Opacities on Chest CT

Abstract

INTRODUCTION: Common manifestations of Alpha-1 antitrypsin (AAT) deficiency include panacinar emphysema, bronchiectasis, and cirrhosis. Rarely association of inflammatory bowel disease, vasculitis, psoriasis, urticaria, and angioedema have been described. Here, we present an unusual case with necrotizing panniculitis and pulmonary ground glass opacities (GGO) on chest CT. CASE PRESENTATION: A 26-year-old Caucasian female smoker presented with painful, vulvar ulcers for eight weeks. On examination thickened, tender labia majora and minora covered with serous exudate, and multiple ulcers on the labia minora were noted. Serologies for HSV, HIV, HBV, HCV, ANA, ANCA, and ENA were all negative. Biopsy of the vulvar lesions revealed neutrophilic dermatoses consistent with necrotizing panniculitis. Special stains and cultures for fungi, bacteria, viruses and acid-fast bacilli were negative. In view of the diagnostic uncertainty esophago-gastro-duodenoscopy, colonoscopy, CT thorax, abdomen and pelvis were performed. Incidental findings of peptic ulcer disease and diffuse upper lobes dominant pulmonary GGOs were observed. Subsequent bronchoscopy showed generalized airway hyperemia and transbronchial biopsies revealed neutrophilic inflammation in the alveoli. Serum AAT level was 74 mg/dl with SZ phenotype. Her vulvar lesions did not respond to empiric treatment with acyclovir, corticosteroids and antifungal treatment. She was eventually discharged home on immunosuppressive therapy. DISCUSSION: Our patient's unique presentation highlights some uncommon features of AAT deficiency. She presented at a young age of 27 years, whereas patient with AAT deficiency usually present between the ages of 32 and 41 years . Necrotizing panniculitis (NP) is a rare manifestation of AAT deficiency, with fewer than 65 cases reported in the literature. No specific studies predict the cut off for AAT level at which NP occurs; however, a case series showed recurrence of NP below a level of 50mg/dl while being managed with intravenous AAT .Moreover, the occurrence of pulmonary GGOs on chest CT scan in our patient is an extremely rare manifestation of AAT deficiency. CONCLUSIONS: Our case report emphasizes the lack of correlation between serum AAT levels and the severity of clinical manifestations. We recommend that patients with NP should be screened for AAT deficiency, and a diagnosis of AAT deficiency should be considered in young smokers presenting with GGO on chest CT with lung biopsy findings of neutrophilic inflammation and negative microbiological workup.