nemoci-sympt/PLICNI/alfa-1-antitrypsinova-deficience/patofyzioloige-dusledky-symptomy
Symptomy
- May resemble recurrent respiratory infections
- Asthma that does not respond to treatment
- May develop emphysema during their thirties or forties even without a history of significant smoking
- Impaired liver function in some patients
- May lead to cirrhosis and liver failure (15%) [2]
- Early onset jaundice in newborns followed by prolonged jaundice [2]
Age
Newborn
- Enzyme deficiency is congenital
- In neonates as a cause of neonatal jaundice and hepatitis [4]
Infants
- Present in infants as cholestatic jaundice [4]
Children
- In children as hepatic cirrhosis or liver failure [4]
- Leading underlying condition requiring liver transplantation in children [4]
Adolescents
- Lung function appears to be normal among adolescents with PiZZ compared with a similarly matched group
- FVC, FEV1, residual volume, and total lung capacity measurements were not different [4]
Adults 30+
- Decrease in lung function during the fourth decade of life in smokers [4]
- FEV1 decreases in adult PiZZ patients at 51-317 mL per year
- Estimated decline in healthy patients is 30 mL/y [4]
Adults 40+
- In adults chronic liver disease in the fifth decade of life
- Cause of emphysema in nonsmokers in the fifth decade of life [4]
Asthma
- Associated to ?1-antitrypsin deficiency
Autoimmune hepatitis
- Associated to ?1-antitrypsin deficiency
Bladder carcinoma
- Associated to ?1-antitrypsin deficiency
Bronchiectasis
- Associated to ?1-antitrypsin deficiency
COPD
- About 1% of all COPD patients actually have an A1AT deficiency [4]
- About 3% of people with COPD believed to have the condition [2]
- Testing should be performed for all patients with
- COPD
- Asthma with irreversible airflow obstruction
- Unexplained liver disease
- Necrotizing panniculitis [2]
- Early-onset panacinar emphysema [4]
Emphysema due to AAT deficiency
- Many features in common with usual COPD
- Dyspnea
- Most common presenting symptom
- Cough
- Sputum production
- Wheezing
- Chronically or with upper respiratory tract infections
- Spontaneous secondary pneumothorax may be
- Bronchiectasis has also been associated with severe deficiency of AAT
Other extrapulmonary manifestations of AAT deficiency
- Necrotizing panniculitis
- Hot, painful, erythematous nodules or plaques on the thigh or buttocks
- Major dermatologic manifestation of AAT deficiency
- Systemic vasculitis
- Psoriasis
- Urticaria
- Angioedema
- Possibly inflammatory bowel disease
- Intracranial and intra-abdominal aneurysms
- Fibromuscular dysplasia
- Glomerulonephritis [1]
Gallbladder cancer
- Associated to ?1-antitrypsin deficiency
Gallstones
- Associated to ?1-antitrypsin deficiency
Granulomatosis with polyangiitis
- Associated to ?1-antitrypsin deficiency
Hepatocellular carcinoma (liver)
- Associated to ?1-antitrypsin deficiency
Increased risk of lung infections
Liver idsease
- At-risk alleles
- Z, S[iiyama]
- M[malton]
- May develop
- Adult-onset chronic hepatitis
- Cirrhosis
- Hepatocellular carcinoma
- Major manifestation of alpha1-antitrypsin deficiency (AATD) in the first two decades of life is liver disease [5]
Lung cancer
- Associated to ?1-antitrypsin deficiency [2]
Lymphoma
- Associated to ?1-antitrypsin deficiency
Neonatal jaundice
Pancreatitis
- Associated to ?1-antitrypsin deficiency
Panniculitis
Pelvic organ prolapse
- Associated to ?1-antitrypsin deficiency
Pneumothorax
- Associated to ?1-antitrypsin deficiency
Primary sclerosing cholangitis
- Associated to ?1-antitrypsin deficiency
Secondary membranoproliferative glomerulonephritis
- Associated to ?1-antitrypsin deficiency
