Scott Hahm, MD, presented the case of a patient with alpha-1 antitrypsin deficiency (AATD), a rare cause of liver disease, in an article published in Proceedings of UCLA Health.

The case details a 34-year-old man who presented with right-sided abdominal pain and changes in his bowel habits. He had a past medical history of small bowel obstruction, tubular adenoma of the colon, external hemorrhoids, and migraine headaches.

Further history taking revealed that he passed 1 formed bowel movement per day when feeling well. However, when he felt unwell, his stools were dark and tarry and he would need to evacuate his bowels 3 times a day.


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Laboratory results discovered that he had mildly elevated levels of alanine aminotransferase (ALT). A repeat liver panel 1 month later showed persistent elevation of ALT. The patient denied drinking alcohol. 

“Chronic liver disease testing found low levels of serum [AATD]. Subsequently isoelectric focusing found him heterozygous for the Z mutation for alpha- 1-antitrypsin deficiency, genotype MZ,” Dr. Hahm wrote.

Read more about AATD epidemiology 

Abdominal ultrasound showed normal liver morphology, and no gallstones were detected. The patient was then referred to the pulmonary team for baseline function tests to be carried out and for the patient to be screened for emphysema. 

AATD is a rare cause of liver disease and is commonly found in patients of Northwestern European descent. There is currently no curative treatment for AATD. Alpha-1 antitrypsin may be given as an infusion consisting of blood plasma concentrate from human donors. It is usually administered once a week. As for severe liver disease, the main treatment option is liver transplantation.

“[AATD] is a rare genetic disease caused by an amino acid substitution resulting in improper folding of the protein leading to retention within the hepatocytes,” Dr. Hahm concluded. “Despite its rarity, it is common when evaluating abnormal liver panels.” 

Reference

Hahm S. Alpha-1-antitrypsin deficiency: a rare cause of liver disease in community hepatology practices. Proceedings of UCLA Health. 2022;26.