Rare diseases · Sign or symptom
Increased stool alpha1-antitrypsin concentration
HP:0031686
What it means
An abnormally elevated amount of alpha1-antitrypsin in the feces.
Alpha-1-antitrypsin is resistant to degradation by digestive enzymes and can therefore be used as a marker for the presence of blood proteins in the intestinal tract (e.g., protein-losing enteropathy).
Rare diseases that can present with this2
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.