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Recurrent Acute Pancreatitis Secondary to Alpha-1-Antitrypsin Deficiency
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A6782 - Recurrent Acute Pancreatitis Secondary to Alpha-1-Antitrypsin Deficiency
Author Block: Z. Awan1, A. Turner2; 1Academic Respiratory Medicine, Heart of England Foundation Trust, Birmingham, United Kingdom, 2Research Laboratories, Queen Elizabeth Hospital, Birmingham, United Kingdom.
We present the first reported case of recurrent acute pancreatitis (RAP) occurring with alpha-1-antitrypsin deficiency (AATD) (PiZZ phenotype). Deficiency of alpha-1-antitrypsin has previously been linked to acute and chronic pancreatitis (CP). It is important to explore this association as 30% of RAP cases are deemed ‘idiopathic’. AATD is under-diagnosed as many patients do not present with classic respiratory and/or hepatic dysfunction hence it is usually unsuspected and not currently investigated in the routine work-up of RAP. Efforts to investigate rarer causes of RAP are a worthy process given the greater risk of these patients developing CP.
A 30-year-old medically fit and well Caucasian woman presented to hospital with acute onset abdominal pain with nausea and vomiting without any preceding systemic or constitutional symptoms. The patient was genetically screened and confirmed to have alpha-1-antitrypsin deficiency (AATD) (PiZZ phenotype) as a child. Notwithstanding, she had no current evidence of active lung or liver disease secondary to her AATD. She was not on any regular medications or recreational drugs and had no family history of pancreatitis or hyperlipidaemia. There was no history of alcohol excess and she was a current smoker with a 17-pack-year history.
Blood tests revealed an amylase of 1420 U/L with normal full blood count, liver and kidney function. The patient also had an unremarkable lipid profile, serum biochemistry and bone profile including normal adjusted calcium levels (2.3 mmol/L), autoimmune profile. She was diagnosed as having mild acute pancreatitis based on the Glasgow score. An USS CT abdomen, MRI and MRCP were normal ruling out gallstones, pancreatic pseudocysts and pancreatic necrosis, strictures and congenital abnormalities. Fibroscans and spirometry throughout this period remained unremarkable.
Unfortunately, our patient had 4 further episodes over the following year despite supportive treatment and exocrine supplementation with Creon. After extensive investigations as per guidelines in to the cause of her RAP with repeated negative results, the episodes were attributed to her AATD by a pancreatic specialist.
If a true genetic association exists, it may justify routine testing for AATD in patients with RAP of unknown aetiology. As there is concurrent growing interest in the role of alpha-1-antitrypsin replacement (AATR) beyond augmentation therapy, this may warrant further studies in to the utility of AATR as a therapeutic target for a subset of patients with troublesome pancreatitis.
Author Block: Z. Awan1, A. Turner2; 1Academic Respiratory Medicine, Heart of England Foundation Trust, Birmingham, United Kingdom, 2Research Laboratories, Queen Elizabeth Hospital, Birmingham, United Kingdom.
We present the first reported case of recurrent acute pancreatitis (RAP) occurring with alpha-1-antitrypsin deficiency (AATD) (PiZZ phenotype). Deficiency of alpha-1-antitrypsin has previously been linked to acute and chronic pancreatitis (CP). It is important to explore this association as 30% of RAP cases are deemed ‘idiopathic’. AATD is under-diagnosed as many patients do not present with classic respiratory and/or hepatic dysfunction hence it is usually unsuspected and not currently investigated in the routine work-up of RAP. Efforts to investigate rarer causes of RAP are a worthy process given the greater risk of these patients developing CP.
A 30-year-old medically fit and well Caucasian woman presented to hospital with acute onset abdominal pain with nausea and vomiting without any preceding systemic or constitutional symptoms. The patient was genetically screened and confirmed to have alpha-1-antitrypsin deficiency (AATD) (PiZZ phenotype) as a child. Notwithstanding, she had no current evidence of active lung or liver disease secondary to her AATD. She was not on any regular medications or recreational drugs and had no family history of pancreatitis or hyperlipidaemia. There was no history of alcohol excess and she was a current smoker with a 17-pack-year history.
Blood tests revealed an amylase of 1420 U/L with normal full blood count, liver and kidney function. The patient also had an unremarkable lipid profile, serum biochemistry and bone profile including normal adjusted calcium levels (2.3 mmol/L), autoimmune profile. She was diagnosed as having mild acute pancreatitis based on the Glasgow score. An USS CT abdomen, MRI and MRCP were normal ruling out gallstones, pancreatic pseudocysts and pancreatic necrosis, strictures and congenital abnormalities. Fibroscans and spirometry throughout this period remained unremarkable.
Unfortunately, our patient had 4 further episodes over the following year despite supportive treatment and exocrine supplementation with Creon. After extensive investigations as per guidelines in to the cause of her RAP with repeated negative results, the episodes were attributed to her AATD by a pancreatic specialist.
If a true genetic association exists, it may justify routine testing for AATD in patients with RAP of unknown aetiology. As there is concurrent growing interest in the role of alpha-1-antitrypsin replacement (AATR) beyond augmentation therapy, this may warrant further studies in to the utility of AATR as a therapeutic target for a subset of patients with troublesome pancreatitis.
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