Alpha 1-antitrypsin deficiency history and symptoms: Difference between revisions

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{{Alpha 1-antitrypsin deficiency}}
{{Alpha 1-antitrypsin deficiency}}
{{CMG}}; {{AE}} {{CZ}}
{{CMG}}; {{AE}} {{Mazia}}


==Overview==
==Overview==
Alpha 1-antitrypsin deficiency (A1AD) may be slow to manifest in symptom onset in newborns. As a patient ages, liver dysfunction and deterioration will occur.
Alpha 1-antitrypsin deficiency (A1AD) may have delayed onset of [[symptoms]] [[newborns]]. As a patient ages, [[Liver Diseases|liver dysfunction]] and deterioration will occur. The hallmark of AATD is [[dyspnea]]. A positive history of [[dyspnea]] and [[Cirrhosis|liver cirrhosis]] or [[chronic hepatitis]] is suggestive of AATD. The presentation of [[disease]] varies depending on the type of [[mutation]] associated with AATD. [[Symptoms]] of alpha-1 antitrypsin deficiency include [[shortness of breath]], [[wheezing]], [[rhonchi]] and [[rales]] associated with [[Infections|recurring respiratory infections]] and obstructive [[asthma]] that does not respond to treatment.
*American Thoracic Society and the European Respiratory Society recommends diagnostic testing for alpha1-antitrypsin deficiency (AATD) in:
==Histroy and Symptoms==
*Patients with symptomatic emphysema, chronic obstructive pulmonary disease (COPD), or asthma associated with airflow obstruction that is incompletely controlled after aggressive treatment with bronchodilators.
*The hallmark of AATD is [[dyspnea]]. A positive history of [[dyspnea]] and [[liver cirrhosis]] or [[chronic hepatitis]] is suggestive of AATD.<ref>American Thoracic Society, Guidelines for the approach to the patient with severe hereditary alpha-1-antitrypsin deficiency, Am Rev Respir Dis 1989; 140: 1494-1497.</ref><ref>Eriksson, S. Alpha 1 – antitrypsin Deficiency: Lessons Learned from the Bedside to the Gene and Back Again: Historic Perspectives, Chest 1989; 95: 181-189. PMID 2642407</ref><ref>Rovner, M.S., Stoller, J.K., Treatment of alpha-1 antitrypsin deficiency, in UpToDate, January 12, 1998.</ref><ref>Stoller, J.K., Clinical Features and Natural History of Severe alpha-1 Antitrypsin Deficiency, Chest 1997; 111: 123s-128s. PMID 9184559</ref><ref>Stoller, J.K., Extrapulmonary manifestations of alpha-1 antitrypsin deficiency, in UpToDate, March 13, 1997.</ref><ref>Stoller, J.K., Clinical manifestations and natural history of alpha-1 antitrypsin deficiency, in UpToDate, January 3, 1997.</ref>
*Patients with unexplained liver disease, including neonates, children, adults, and older adults.
*The presentation of disease varies depending on the type of [[Mutations|mutation]] associated with AATD. The initial [[symptoms]] include cough associated with [[Sputum|sputum production]] and [[wheezing]]. These [[symptoms]] are initially intermittent
*Asymptomatic individuals with persistent obstruction on pulmonary function tests (PFTs) with identifiable risks factors (eg, smoking, occupational exposure)
*Adults with necrotizing panniculitis


*Patients that smoke regularly develop dyspnea about 10 years earlier when compared to patients who do not smoke.
*[[Dyspnea]] occurs with strenuous exercise initially but eventually results in limitation of mild activities with disease progession.


==Histroy and Symptoms==
*Other associations include [[panniculitis]] and [[Antineutrophil cytoplasmic antibody|cytoplasmic antineutrophil cytoplasmic antibody‒positive vasculitis]].  
The hallmark of AATD is Dyspnea.
 
A positive history of dyspnea and liver cirhosis or chronic hepatitis is suggestive of AATD. The presentation of disease varies depending on the type of mutation associated with AATD.
*It is important to have a high level of suspicion for AATD in the differential diagnosis as the presentation is very similar to some of the common illnesses such as [[asthma]], [[COPD]], or [[Chronic cough, severe cold|chronic cough]].
The initial symptoms include cough associated with sputum production, and wheezing. These symptoms are initially intermittent. Dyspnea of AATD is initially associated only with strenuous exertion but as the disease progresses it eventually limits even mild activities.
Cigarette smoking can result in accelerated progression of emphysema in patients with AATD. Dyspnea develops about 10 years earlier in alpha1-antitrypsin-deficient individuals who smoke regularly.
Less common associations are panniculitis and an increase in the association of cytoplasmic antineutrophil cytoplasmic antibody‒positive vasculitis. [5]
Often this diagnosis is missed, as presentation is similar to more common illnesses such as asthma, COPD, or chronic cough. Hence, it is important to have a high level of suspicion and consider AATD in the differential diagnosis.


Symptoms of alpha-1 antitrypsin deficiency include:
*Symptoms of alpha-1 antitrypsin deficiency include:
* [[dyspnea|Shortness of breath]]
** [[dyspnea|Shortness of breath]]
* Wheezing
** [[Wheezing]]
* [[Rhonchi]] rales may be present and appear to be recurring respiratory infections (but isn't)
** [[Rhonchi]] rales may be present and appear to be recurring respiratory infections (but isn't)
* Obstructive [[asthma]] that does not respond to treatment
** Obstructive [[asthma]] that does not respond to treatment


Individuals with alpha-1 may develop [[emphysema]] during their thirties or forties, without a history of significant smoking (although smoking greatly increases the risk for emphysema). A1AD also causes impaired liver function in some patients and may lead to [[cirrhosis]] and [[liver failure]] (15%). It is the leading cause of [[liver transplantation]] in newborns. <ref>American Thoracic Society, Guidelines for the approach to the patient with severe hereditary alpha-1-antitrypsin deficiency, Am Rev Respir Dis 1989; 140: 1494-1497.</ref> <ref>Eriksson, S. Alpha 1 – antitrypsin Deficiency: Lessons Learned from the Bedside to the Gene and Back Again: Historic Perspectives, Chest 1989; 95: 181-189. PMID 2642407</ref> <ref>Rovner, M.S., Stoller, J.K., Treatment of alpha-1 antitrypsin deficiency, in UpToDate, January 12, 1998.</ref> <ref>Stoller, J.K., Clinical Features and Natural History of Severe alpha-1 Antitrypsin Deficiency, Chest 1997; 111: 123s-128s. PMID 9184559</ref> <ref>Stoller, J.K., Extrapulmonary manifestations of alpha-1 antitrypsin deficiency, in UpToDate, March 13, 1997.</ref> <ref>Stoller, J.K., Clinical manifestations and natural history of alpha-1 antitrypsin deficiency, in UpToDate, January 3, 1997.</ref>
*Patients with alpha1 antitrypsin deficiency may develop [[emphysema]] during their third or fourth decade of life, even without a history of [[smoking]]. Smoking accelerate progression of [[emphysema]]. Alpha1 antitrypsin deficiency is also associated with impaired [[liver function]] leading to [[cirrhosis]] and [[liver failure]].  
*Alpha 1 antitrypsin deficiency is a common cause requiring  [[liver transplantation]] in newborns.


==References==
==References==

Latest revision as of 17:49, 22 January 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]

Overview

Alpha 1-antitrypsin deficiency (A1AD) may have delayed onset of symptoms newborns. As a patient ages, liver dysfunction and deterioration will occur. The hallmark of AATD is dyspnea. A positive history of dyspnea and liver cirrhosis or chronic hepatitis is suggestive of AATD. The presentation of disease varies depending on the type of mutation associated with AATD. Symptoms of alpha-1 antitrypsin deficiency include shortness of breath, wheezing, rhonchi and rales associated with recurring respiratory infections and obstructive asthma that does not respond to treatment.

Histroy and Symptoms

  • Patients that smoke regularly develop dyspnea about 10 years earlier when compared to patients who do not smoke.
  • Dyspnea occurs with strenuous exercise initially but eventually results in limitation of mild activities with disease progession.
  • It is important to have a high level of suspicion for AATD in the differential diagnosis as the presentation is very similar to some of the common illnesses such as asthma, COPD, or chronic cough.
  • Symptoms of alpha-1 antitrypsin deficiency include:

References

  1. American Thoracic Society, Guidelines for the approach to the patient with severe hereditary alpha-1-antitrypsin deficiency, Am Rev Respir Dis 1989; 140: 1494-1497.
  2. Eriksson, S. Alpha 1 – antitrypsin Deficiency: Lessons Learned from the Bedside to the Gene and Back Again: Historic Perspectives, Chest 1989; 95: 181-189. PMID 2642407
  3. Rovner, M.S., Stoller, J.K., Treatment of alpha-1 antitrypsin deficiency, in UpToDate, January 12, 1998.
  4. Stoller, J.K., Clinical Features and Natural History of Severe alpha-1 Antitrypsin Deficiency, Chest 1997; 111: 123s-128s. PMID 9184559
  5. Stoller, J.K., Extrapulmonary manifestations of alpha-1 antitrypsin deficiency, in UpToDate, March 13, 1997.
  6. Stoller, J.K., Clinical manifestations and natural history of alpha-1 antitrypsin deficiency, in UpToDate, January 3, 1997.


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