Alpha-1 antitrypsin deficiency–associated panniculitis - 14/03/21

Doi : 10.1016/j.jaad.2021.01.074

Alessandro N. Franciosi, MD, PhD ^a,^b,^⁎ , James Ralph, MD ^c, Naoimh J. O'Farrell, MD, PhD ^d, Colm Buckley, FAMLS ^d, Christian Gulmann, MD ^d, Marina O'Kane, MD, BSc ^c, Tomás P. Carroll, PhD ^b,^e, Noel G. McElvaney, MD, DSc ^a,^b
^a Department of Medicine, Beaumont Hospital, Dublin, Ireland
^b Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland, Dublin, Ireland
^c Department of Dermatology, Beaumont Hospital, Dublin, Ireland
^d Department of Histopathology, Beaumont Hospital, Dublin, Ireland
^e Alpha-1 Foundation Ireland, Royal College of Surgeons in Ireland, Dublin, Ireland

^∗Correspondence to: Alessandro N. Franciosi MD, PhD, Department of Medicine, Beaumont Hospital, Dublin 9, Ireland.Department of MedicineBeaumont HospitalDublin 9Ireland

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Abstract

Background

Panniculitis represents a rare and potentially lethal manifestation of alpha-1 antitrypsin deficiency (AATD). Evidence regarding management is limited to case reports and small case series. We sought to clarify typical features and investigation of AATD-associated panniculitis and assess the evidence regarding therapeutic options.

Search methodology

Articles and abstracts published between 1970 and 2020 were identified by searches of MEDLINE, PubMed, and secondary searches of references from relevant articles using the search terms “panniculitis,” “alpha-1,” “antitrypsin,” “deficiency,” and “Weber-Christian.”

Findings

We identified 117 cases of AATD-associated panniculitis. In 1 series, AATD was present in 15% of all cases of biopsy-proven panniculitis. Failure to achieve clinical response was seen in all instances of systemic steroid use. Dapsone, although effective and accessible, is frequently associated with failure to achieve remission. In these instances, intravenous AAT augmentation therapy generally resulted in response.

Conclusions

AATD may be more prevalent among patients presenting with panniculitis than previously thought. Patients presenting with panniculitis and systemic illness show high mortality risk. Although most cases are associated with the severe ZZ-genotype, moderate genotypes may also predispose to panniculitis. Dapsone remains the most cost-effective therapeutic option, whereas intravenous AAT augmentation remains the most efficacious. Finally, glucocorticoids appear ineffective in this setting.

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Key words : AATD, alpha-1 antitrypsin, augmentation, dapsone, neutrophilic, panniculitis

Abbreviations used : AAT, AATD, IL, IV-AAT, TNF