Panniculitis and Alpha-1 antitrypsin deficiency

If anyone here has panniculitis, have you been tested for the genetic condition Alpha-1 antitrypsin deficiency?

[PharmacistPrescriber]

I have not see any patients with Panniculitis but if you want more information I have provided link to NHS choices. As for Alpha-1 Antitrypsin deficiency I have come across two people during my practice in respiratory medicines. Both were young and had symptoms resembling COPD (Chronic Obstructive Pulmonary Disease). The enzyme deficiency is marker for diagnosis of COPD in people who have respiratory symptoms but they never smoked in the past. Around 10% of patients with COPD will have genetic disposition and that is deficiency of Alfa-1 Antitrypsin enzyme. I will also say not all people with deficiency will develop COPD hence you should not get yourself worry even if you have deficiency but make sure you seek medical advice should you at any time develop respiratory symptoms. Those includes recurrent chest infections, excessive phlegm production, shortness of breath and cough lasting long time. the link to NHS choices is : nhs.uk/conditions/panniculi...

[Hidden in reply to PharmacistPrescriber]

Unfortunately, the NHS website does not include Alpha-1 antitrypsin deficiency as one of the causes of panniculitis. In the case of panniculitis caused by Alpha-1, treatment can be effected by the use of augmentation therapy, the weekly infusion of purified Alpha-1 plasma protein, such as Zemaira (CSL Behring) or Prolastin (Grifols). More information is available here: alpha1.org/newly-diagnosed/... . I know an English woman whose sister, a young adult, died a painful, horrible death of panniculitis caused by Alpha-1. The doctors did not prescribe augmentation therapy.