GenomeX Data Exchange FHIR IG
0.2.0 - draft
GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions
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<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation PrenatalReprDiagImpAlpha1ADPatientMale</b></p><a name="PrenatalReprDiagImpAlpha1ADPatientMale"> </a><a name="hcPrenatalReprDiagImpAlpha1ADPatientMale"> </a><a name="PrenatalReprDiagImpAlpha1ADPatientMale-en-US"> </a><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px">version: 1; Last updated: 2024-09-25 00:01:34+0000; </p><p style="margin-bottom: 0px">Information Source: #hrQE3dHjuHuJ5zkf</p><p style="margin-bottom: 0px">Profile: <a href="http://hl7.org/fhir/uv/genomics-reporting/2024Jan/StructureDefinition-diagnostic-implication.html">Diagnostic Implication</a></p></div><p><b>Genomic Risk Assessment</b>: <a href="RiskAssessment-PrenatalReproductivePostRiskAlpha1ADPatientMale.html">alpha-1 antitrypsin deficiency Reproductive Risk</a></p><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></p><p><b>subject</b>: <a href="Patient-PatientMale.html">Higado Sobreviviente (official) Male, DoB: 1996-05-13 ( Patient ID: fec6172efdca41b4a13341e75cb62e0f (use: official, ))</a></p><p><b>effective</b>: 2024-07-09</p><p><b>performer</b>: <a href="Practitioner-PractitionerLabDirector.html">Practitioner PractitionerJane Smith </a></p><p><b>note</b>: ## What Is Alpha-1 Antitrypsin Deficiency?
Alpha-1 Antitrypsin Deficiency (AATD), caused by mutations in the _SERPINA1_ gene, is an inherited condition that can cause lung and liver disease. The symptoms of AATD vary greatly from individual to individual, even among those in the same family. Knowing which mutations a child inherits can serve as a guide to how severe his or her symptoms might be. The primary mutation that causes symptoms is called the "Z allele."
As the name indicates, AATD is caused by a deficiency in a protein called alpha-1 antitrypsin. This protein protects the body from neutrophil elastase, an enzyme which normally fights infection in a helpful way. Without sufficient levels of alpha-1 antitrypsin, neutrophil elastase can attack and harm healthy tissue in the lungs. Abnormally formed alpha-1 antitrypsin can also build up in the liver and cause damage.
Ninety-five percent of AATD is caused by the presence of two Z alleles. Individuals who inherit two copies of the Z allele ("ZZ") are most likely to have the severe symptoms of the disease. Smokers with the disease are much more likely to develop symptoms than non-smokers. Secondhand smoke, particularly from one's parents, can also increase the chances of developing symptoms.
Emphysema, a chronic disease in which air sacs in the lungs lose their normal ability to expand and contract, is the most common symptom of AATD. Emphysema causes a progressive difficulty in breathing and a hacking cough. It can severely limit physical activity. The first signs of emphysema, shortness of breath and wheezing, often appear between the ages of 40 and 50 in smokers with the disease. Non-smokers with AATD typically develop emphysema symptoms later, even after the age of 60.
Liver disease is another possible symptom of AATD. About 2.5% of children with AATD will develop severe liver complications. Common symptoms of these early liver problems include a swollen abdomen, swollen feet or legs, abnormal liver enzyme activity, and a yellowing of the skin or whites of the eyes (jaundice).
Overall, 15 to 19% of adults over the age of 50 with two Z alleles develop a build-up of scar tissue in the liver (cirrhosis). This symptom can develop at any age, with a greater risk of cirrhosis later in life. When liver disease associated with AATD begins later in life, destruction of the liver tissue can be rapid.
Higher risk for a particular type of liver cancer has been reported among individuals with AATD, notably in men.
Individuals with only one copy of the Z allele (called carriers) have a slightly elevated risk for lung or liver problems. One study placed this risk at 8%, versus 2 to 4% for the general population. Smokers who are carriers of the Z allele are more likely to develop lung problems such as emphysema, while non-smoking carriers rarely do.
Individuals with AATD may rarely experience inflammation of the skin (panniculitis) or of the blood vessels (vasculitis). These symptoms are much less common than lung or liver complications, with panniculitis estimated to occur in 0.1% and vasculitis estimated to occur in 2% of patients with AATD.
## How Common Is Alpha-1 Antitrypsin Deficiency?
In North America, AATD affects 1 in 5,000 to 7,000 individuals. In a study of 75,000 Europeans, researchers estimated that 1 in 4,700 were affected by AATD. The Z allele is most common among individuals of Northwestern European, French Canadian, Cajun, Ashkenazi Jewish, and Middle Eastern ancestry, where up to 1 in 32 individuals are carriers.
AATD is rare in Asian and African populations, except in populations that are racially heterogeneous. For example, African-Americans in the United States have a higher rate of AATD than populations in Africa.
Researchers believe that AATD is often diagnosed as chronic obstructive pulmonary disease (COPD), a relatively common disease, without the realization that AATD is the cause of the COPD. For this reason, the disease may be more common than prevalence numbers indicate.
## How Is Alpha-1 Antitrypsin Deficiency Treated?
Individuals with AATD should not smoke. Smokers are more likely to develop symptoms of AATD. In smokers, symptoms tend to develop at an earlier age and progress at a faster rate. Individuals with the disease should also avoid exposure to secondhand smoke, pollution, mineral dust, gas, and chemical fumes. Regular exercise and good nutrition are beneficial for people with AATD.
Carriers of the Z allele should also avoid smoking, as it can increase the risk for health problems related to the Z allele such as COPD or emphysema.
Patients who have moderate lung damage are recommended to have infusions of purified human alpha-1 antitrypsin via intravenous injections. This treatment is considered most effective among individuals with moderate lung damage. This type of treatment is not recommended for patients with AATD who have very little or no lung damage.
In individuals with severe liver or lung disease, transplantation of the failing organ may be an option. Liver transplants can "cure" the disease, because the donor liver will produce the alpha-1 antitrypsin protein.
## What Is the Prognosis for an Individual with Alpha-1 Antitrypsin Deficiency?
The prognosis, or outcome, for patients with AATD depends on the type and severity of symptoms they have. In some patients the disease can shorten lifespan, while in others it allows for a normal lifespan. Roughly 2.5% of children with two copies of the Z allele develop severe liver disease and may need a liver transplant.
Overall, smokers show much more severe and rapid lung damage beginning earlier in life than non-smokers, and those with one or more copies of the Z allele are more likely to develop symptoms. In non-smokers who develop lung complications after their 60th birthday, lifespan may be normal., Alpha-1 Antitrypsin Deficiency (AATD) causes lung and liver disease. The condition is primarily an adult-onset condition, and not all people with the condition will develop symptoms. In approximately 2.5% of cases, children with the condition will develop liver complications. People affected by AATD should avoid smoking. In some cases the disease shortens lifespan, while in many others it does not.</p><p><b>derivedFrom</b>: <a href="Observation-PrenatalVariant1SNPAlpha1ADPatientMale.html">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81259-4}">Associated phenotype</span></p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 30188007}">Alpha-1-antitrypsin deficiency</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs condition-inheritance}">Condition Inheritance</span></p><p><b>value</b>: <span title="Codes:">Autosomal recessive inheritance</span></p></blockquote></div>
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Alpha-1 Antitrypsin Deficiency (AATD), caused by mutations in the _SERPINA1_ gene, is an inherited condition that can cause lung and liver disease. The symptoms of AATD vary greatly from individual to individual, even among those in the same family. Knowing which mutations a child inherits can serve as a guide to how severe his or her symptoms might be. The primary mutation that causes symptoms is called the "Z allele."
As the name indicates, AATD is caused by a deficiency in a protein called alpha-1 antitrypsin. This protein protects the body from neutrophil elastase, an enzyme which normally fights infection in a helpful way. Without sufficient levels of alpha-1 antitrypsin, neutrophil elastase can attack and harm healthy tissue in the lungs. Abnormally formed alpha-1 antitrypsin can also build up in the liver and cause damage.
Ninety-five percent of AATD is caused by the presence of two Z alleles. Individuals who inherit two copies of the Z allele ("ZZ") are most likely to have the severe symptoms of the disease. Smokers with the disease are much more likely to develop symptoms than non-smokers. Secondhand smoke, particularly from one's parents, can also increase the chances of developing symptoms.
Emphysema, a chronic disease in which air sacs in the lungs lose their normal ability to expand and contract, is the most common symptom of AATD. Emphysema causes a progressive difficulty in breathing and a hacking cough. It can severely limit physical activity. The first signs of emphysema, shortness of breath and wheezing, often appear between the ages of 40 and 50 in smokers with the disease. Non-smokers with AATD typically develop emphysema symptoms later, even after the age of 60.
Liver disease is another possible symptom of AATD. About 2.5% of children with AATD will develop severe liver complications. Common symptoms of these early liver problems include a swollen abdomen, swollen feet or legs, abnormal liver enzyme activity, and a yellowing of the skin or whites of the eyes (jaundice).
Overall, 15 to 19% of adults over the age of 50 with two Z alleles develop a build-up of scar tissue in the liver (cirrhosis). This symptom can develop at any age, with a greater risk of cirrhosis later in life. When liver disease associated with AATD begins later in life, destruction of the liver tissue can be rapid.
Higher risk for a particular type of liver cancer has been reported among individuals with AATD, notably in men.
Individuals with only one copy of the Z allele (called carriers) have a slightly elevated risk for lung or liver problems. One study placed this risk at 8%, versus 2 to 4% for the general population. Smokers who are carriers of the Z allele are more likely to develop lung problems such as emphysema, while non-smoking carriers rarely do.
Individuals with AATD may rarely experience inflammation of the skin (panniculitis) or of the blood vessels (vasculitis). These symptoms are much less common than lung or liver complications, with panniculitis estimated to occur in 0.1% and vasculitis estimated to occur in 2% of patients with AATD.
## How Common Is Alpha-1 Antitrypsin Deficiency?
In North America, AATD affects 1 in 5,000 to 7,000 individuals. In a study of 75,000 Europeans, researchers estimated that 1 in 4,700 were affected by AATD. The Z allele is most common among individuals of Northwestern European, French Canadian, Cajun, Ashkenazi Jewish, and Middle Eastern ancestry, where up to 1 in 32 individuals are carriers.
AATD is rare in Asian and African populations, except in populations that are racially heterogeneous. For example, African-Americans in the United States have a higher rate of AATD than populations in Africa.
Researchers believe that AATD is often diagnosed as chronic obstructive pulmonary disease (COPD), a relatively common disease, without the realization that AATD is the cause of the COPD. For this reason, the disease may be more common than prevalence numbers indicate.
## How Is Alpha-1 Antitrypsin Deficiency Treated?
Individuals with AATD should not smoke. Smokers are more likely to develop symptoms of AATD. In smokers, symptoms tend to develop at an earlier age and progress at a faster rate. Individuals with the disease should also avoid exposure to secondhand smoke, pollution, mineral dust, gas, and chemical fumes. Regular exercise and good nutrition are beneficial for people with AATD.
Carriers of the Z allele should also avoid smoking, as it can increase the risk for health problems related to the Z allele such as COPD or emphysema.
Patients who have moderate lung damage are recommended to have infusions of purified human alpha-1 antitrypsin via intravenous injections. This treatment is considered most effective among individuals with moderate lung damage. This type of treatment is not recommended for patients with AATD who have very little or no lung damage.
In individuals with severe liver or lung disease, transplantation of the failing organ may be an option. Liver transplants can "cure" the disease, because the donor liver will produce the alpha-1 antitrypsin protein.
## What Is the Prognosis for an Individual with Alpha-1 Antitrypsin Deficiency?
The prognosis, or outcome, for patients with AATD depends on the type and severity of symptoms they have. In some patients the disease can shorten lifespan, while in others it allows for a normal lifespan. Roughly 2.5% of children with two copies of the Z allele develop severe liver disease and may need a liver transplant.
Overall, smokers show much more severe and rapid lung damage beginning earlier in life than non-smokers, and those with one or more copies of the Z allele are more likely to develop symptoms. In non-smokers who develop lung complications after their 60th birthday, lifespan may be normal."/>
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