A Case of Familial Hypercholesterolemia and Cerebrotendinous Xanthomatosis With Multiple Giant Xanthomas
A 56-year-old woman was referred to our hospital for evaluation of multiple infectious giant xanthomas on her upper and lower limbs. She was initially diagnosed with heterozygous familial hypercholesterolemia with a proprotein convertase subtilisin/kexin type 9 (PCSK9) mutation and was administered...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
American College of Physicians
2024-10-01
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| Series: | Annals of Internal Medicine: Clinical Cases |
| Online Access: | https://www.acpjournals.org/doi/10.7326/aimcc.2024.0554 |
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| Summary: | A 56-year-old woman was referred to our hospital for evaluation of multiple infectious giant xanthomas on her upper and lower limbs. She was initially diagnosed with heterozygous familial hypercholesterolemia with a proprotein convertase subtilisin/kexin type 9 (PCSK9) mutation and was administered a PCSK9 inhibitor. However, the infectious state of the giant xanthomas did not improve, despite good control of the patient's low-density lipoprotein cholesterol levels. After further investigation, the patient was diagnosed with cerebrotendinous xanthomatosis. After initiation of treatment with chenodeoxycholic acid in addition to a PCSK9 inhibitor, the xanthoma ulcer gradually improved and eventually healed. |
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| ISSN: | 2767-7664 |