What are the other Names for this Condition (Also known as/Synonyms)

• A1AD Panniculitis
• Panniculitis Associated A1AD
• Panniculitis Associated with Alpha-1 Antitrypsin Deficiency

What is Alpha-1 Antitrypsin Deficiency Panniculitis? (Definition/Background Information)

• Alpha-1 Antitrypsin Deficiency Panniculitis is a rare type of panniculitis that occurs in individuals diagnosed with alpha-1 antitrypsin deficiency (A1AD) disorder
• In individuals with A1AD, there is a deficiency or lack of the enzyme alpha-1 antitrypsin in blood. Such individuals are susceptible to developing inflammation of fatty tissue under the skin (subcutaneous), and at other parts of the body
• A1AD Panniculitis is an inherited genetic condition and the risk factors for this condition include a positive family history of the same. In this condition, painful nodules occur on the chest, back, and arms
• The condition causes the presence of painful or painless subcutaneous nodules; the skin over these nodules may be red in color. The cause of the condition is unknown
• Alpha-1 Antitrypsin Deficiency Panniculitis may also have the involvement of many vital organs such as the heart, lungs, kidneys, intestines, and spleen
• The treatment involves the use of medications and steroids, however the prognosis depends upon many factors including the underlying condition, the severity of the signs and symptoms, and the organs that are affected

Who gets Alpha-1 Antitrypsin Deficiency Panniculitis? (Age and Sex Distribution)

• Alpha-1 Antitrypsin Deficiency Panniculitis can affect any individual of any age or gender provided they have a congenital condition of alpha-1 antitrypsin deficiency
• All racial and ethnic groups are susceptible and the condition is observed worldwide
• However, individuals of European ancestry have been found to more frequently have this enzyme deficiency condition

What are the Risk Factors for Alpha-1 Antitrypsin Deficiency Panniculitis? (Predisposing Factors)

• Alpha-1 antitrypsin deficiency is an inherited genetic disorder with an autosomal recessive pattern, and hence, children born with this disorder are at risk for Alpha-1 Antitrypsin Deficiency Panniculitis

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes Alpha-1 Antitrypsin Deficiency Panniculitis?

• The exact cause of Alpha-1 Antitrypsin Deficiency Panniculitis is currently unknown
• But, it is strongly linked to alpha-1 antitrypsin deficiency disorder, an inherited genetic disorder
• Alpha-1 antitrypsin deficiency is caused by mutations in the SERPINA1 gene, which is inherited in an autosomal recessive manner

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children, born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Alpha-1 Antitrypsin Deficiency Panniculitis?

The signs and symptoms of Alpha-1 Antitrypsin Deficiency Panniculitis may include:

• The chest, back, and arms may be affected giving rise to painful nodules that are itchy
• There could be the formation of ascites (fluid in the abdomen)
• The nodules are mostly observed in the thighs and lower legs. The nodules appear in a symmetric pattern and may present with or without any pain
• The subcutaneous nodules may be present on other parts of the body
• Fever
• Tiredness
• Joint and muscle pain
• Weight loss
• Occasional involvement of other organs such as:
  • Pericardium (covering of heart)
  • Pancreas
  • Pleura (fibrous covering of lung), with chest pain and breathing difficulties
  • Fat around the liver and intestines: When this occurs the signs and symptoms may include nausea and vomiting, abdominal pain, enlarged liver (hepatomegaly)

How is Alpha-1 Antitrypsin Deficiency Panniculitis Diagnosed?

Alpha-1 Antitrypsin Deficiency Panniculitis may be diagnosed using the following tools:

• Complete physical examination with comprehensive evaluation of medical history
• Blood test to detect levels of alpha-1 antitrypsin: Decreased serum levels of alpha-1 antitrypsin may be noticed
• Blood tests to detect serum amylase levels, CBC with differentials
• Urine tests to check for lipase and amylase levels
• Radiographic studies of the affected region
• Deep skin biopsy: A biopsy including an adequate representative sample of the subcutaneous fat is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis

Depending upon the organ involved, the healthcare provider may undertake further studies such as:

• Echocardiogram (for the heart)
• Chest X-ray, CT, or MRI scans
• Abdominal ultrasound, CT, or MRI scans
• Liver function test

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Alpha-1 Antitrypsin Deficiency Panniculitis?

The complications due to Alpha-1 Antitrypsin Deficiency Panniculitis may include:

• Alpha-1 Antitrypsin Deficiency can also involve severe liver, lung, and other organ manifestations. These must be evaluated and treated when A1AD Panniculitis is diagnosed
• The nodules may ulcerate and bleed, resulting to the formation of scars on healing
• Bacterial and fungal infections: The condition may providing a suitable environment for bacteria and fungi to grow and thrive, resulting in secondary infections
• The lesions can last for years resulting in self-image issues, emotional stress, and psychological trauma in some individuals
• If the emotional stress is severe, it may even lead to depression and social isolation

How is Alpha-1 Antitrypsin Deficiency Panniculitis Treated?

The treatment of Alpha-1 Antitrypsin Deficiency Panniculitis may involve the following measures:

• Treatment of the underlying cause, which is A1A deficiency, such as through intravenous (through vein) replacement of alpha-1 antitrypsin enzyme
• Medications such as oral dapsone, hydroxychloroquine, danazol, doxycycline, and colchicine 
• Human alpha-1 proteinase inhibitor concentrate can be given by intravenous infusion, providing the missing inflammatory chemicals. In more severe cases, this is the most effective treatment 
• Pain medication such as aspirin
• Surgical removal of longstanding skin lesions, particularly if they ulcerate and get infected
• Medications including antibiotics and antifungals to treat secondary infections
• Lung transplants, in cases of severely damaged lungs or with end-stage lung disease
• Antibiotics and bronchodilators are given for respiratory infections
• Providing reassurance and helping with feelings of stress and anxiety
• Rest is a very important component of treatment
• Follow-up care with regular screening and checkups are important, since the condition can last for many months and years

How can Alpha-1 Antitrypsin Deficiency Panniculitis be Prevented?

Current medical research has not established a method of preventing Alpha-1 Antitrypsin Deficiency Panniculitis. However, the severity of the condition may be controlled through continuous medical support and treatment.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child

What is the Prognosis of Alpha-1 Antitrypsin Deficiency Panniculitis? (Outcomes/Resolutions)

• The prognosis of Alpha-1 Antitrypsin Deficiency Panniculitis depends upon the underlying condition, the severity of the signs and symptoms, and involvement of the vital organs of the body
• It can be a fatal condition if severe involvement of the heart, lungs, kidneys, or liver occurs

Additional and Relevant Useful Information for Alpha-1 Antitrypsin Deficiency Panniculitis:

• Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder inherited in an autosomal recessive manner, in which there is deficiency of the protein alpha-1 antitrypsin (AAT) in blood

The following article link will help you understand alpha-1 antitrypsin deficiency disorder:

https://www.dovemed.com/diseases-conditions/alpha-1-antitrypsin-deficiency