familial hypercholanemia
MeSH: C564336ORPHA: 238475
Overview
Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
MeSH Code
C564336Orphanet Code
ORPHA:238475familial hypercholanemia
| MeSH | C564336 |
| Orphanet | ORPHA:238475 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO