Complications
Necrotising panniculitis (multifocal, erythematous, non-pruritic cutaneous lesions, which ulcerate in the centre and discharge seropurulent exudate) can be caused by AAT deficiency, although this is uncommon.[10]
The prevalence in AAT deficient patients has been estimated at 1 in 1000.[43] There is no clear age group but it is more likely between age 30 and 60 years.
Tests include skin biopsy and AAT deficiency testing.
There is no role for corticosteroids or antibiotics; rather, smoking cessation and AAT augmentation are the mainstays of therapy.[38]
Multiple studies have demonstrated an association between c-ANCA (particularly in granulomatosis with polyangiitis) and AAT deficiency.[102][103] The mechanism by which this complication occurs is thought to involve a protective property of AAT against the serine protease proteinase-3 (PR-3). Additionally, the PI*ZZ variant may have a damaging effect on vasculitis processes once they are initiated.[104]
Granulomatosis with polyangiitis generally affects middle-aged patients, and may present with haemoptysis, haematuria, shortness of breath, cough, sinus disease, purpuric rash, abnormal chest x-ray/CT scan, abnormal urine analysis, and abnormal kidney function.
Tests include lung or kidney biopsy, ANCA test, and AAT deficiency testing.
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