Home » Alpha-1 » What conditions can be associated with Alpha-1?
Through the years, there are a number of rare illnesses that have been identified as being associated with Alpha-1. In some cases the relationship between a particular disease and Alpha-1 is not well established. Just because a rare disease occurs in one or two individuals with Alpha-1, this alone does not mean that Alpha-1 caused the disease.
There are, however, several illnesses that have a well-documented, direct association with Alpha-1, in addition to the lung and liver diseases
Big Fat Reference Guide – AlphaNet
a painful skin condition characterized by discoloration of the skin, large eruptions, and scarring. This condition appears to be related to an inflammation of the blood vessels under the skin leading to death of the overlying skin. This condition is classified as a "vasculitis," an inflammatory condition of the blood vessels. The condition is known to respond well to intravenous Prolastin (and presumably other augmentation therapies, although these have not been tried yet).
Big Fat Reference Guide – AlphaNet
Read more about panniculitis here.
Another form of vasculitis associated with Alpha-1 is a condition called Wegener's Granulomatosis (WG). WG causes nodules to develop in the lung and other parts of the body. It is not known whether augmentation therapy is beneficial in this condition.
Big Fat Reference Guide – AlphaNet
There is recent evidence that individuals with Alpha-1 are more susceptible to infections caused by an unusual group of bacteria known as atypical mycobacteria. This type of bacteria is a relative of the organism that causes tuberculosis. Fortunately, these infections are quite rare.
Big Fat Reference Guide – AlphaNet
Individuals with Alpha-1-related liver disease are at increased risk of developing a type of liver cancer known as hepatocellular carcinoma. This increased risk for hepatocellular carcinoma also is seen in individuals with other diseases that cause scar tissue in the liver. Therefore, this form of cancer is probably not caused by Alpha-1, but rather from having severe liver scarring.
Big Fat Reference Guide – AlphaNet
Other conditions that may be associated with Alpha-1 include pancreatitis (an inflammatory condition of the pancreas), rheumatoid arthritis, and lupus erythematosus (an autoimmune disease). A clear relationship between Alpha-1 and these conditions has not been established, and it may well be that Alpha-1 does not lead to an increased risk for developing anyone of these conditions. Instead, it may be that when an individual who happens to have Alpha-1 also develops one of these conditions, they may suffer more severe symptoms.
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PI MZ carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. have an increased incidence of gallstone disease34 and an increased susceptibility to immune disorders such as ANCA-associated vasculitis...
Although the mechanisms leading to lung or liver disease in PI MZ carriers are probably analogous to those identified in PI ZZ carriers, the factors leading to the increased incidence of gallstones in PI MZ carriers remain to be determined."
Alpha-1 Antitrypsin Deficiency - The New England Journal of Medicine
• Elastase is a pancreatic enzyme.
• Increased elastase due to alpha-1-antitrypsin deficiency can cause chronic pancreatitis.
• Chronic pancreatitis leads to steatorrhea, malabsorption, vitamin deficiency (A, D, E, K, B12), diabetes and weight loss.
Alpha-1 antitrypsin deficiency panniculitis - DermNet NZ
A lack of Alpha1-antitrypsin in patients with rheumatoid arthritis could allow inflammation to increase because of uninhibited lysosomal enzymes.
Mini Review: Alpha 1-antitrypsin and Its Involvement In Rheumatoid Arthritis
The genetic types of alpha1-antitrypsin (Pi types) were studied in 55 adults with classical or definite rheumatoid arthritis and 56 children with juvenile rheumatoid arthritis. A comparison was made with control groups of 211 healthy adults and 512 schoolchildren. Pi types MZ and SZ were significantly more prevalent in adults with rheumatoid arthritis than in the control adults. There was no difference between the patients with juvenile rheumatoid arthritis and the control children. Reduced concentrations of alpha1-antitrypsin, as associated with heterozygotes for the Z allele, may be a contributory factor to the development of rheumatoid arthritis or to the tissue destruction of rheumatoid arthritis.
Rheumatoid arthritis and alpha-1-antitrypsin - NCBI
PI MZ carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. have an increased incidence of
gallstone disease34 and an increased susceptibility to immune disorders such as ANCA-associated vasculitis.32 Particularly high odds were reported
for disorders associated with myeloperoxidase-reactive ANCA with perinuclear staining (p-ANCA) and those associated with proteinase 3–reactive ANCA with cytoplasmic staining (c-ANCA). ANCAassociated vasculitis can occur with other AATalpha-1 antitrypsin variants such as the S allele33 and may represent a loss-of-function phenotype, since proteinase 3 is a target protease for AATalpha-1 antitrypsin.
Alpha-1 Antitrypsin Deficiency - The New England Journal of Medicine
