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| Disease found: | Familial Hypercholesterolemia |
| Current as of: | October 8, 2024 |
| Disease Overview: | A diagnosis characterized by very significantly elevated low-density lipoprotein (LDL) cholesterol (LDL-C) due to mutations in LDLR, APOB, and PCSK9 genes [more info] |
| Signs and Symptoms: | Elevated LDL, Xanthomas, CAD, peripheral vascular disease and aortic aneurysm [more info] |
| Diagnosis: | DNA testing confirms the diagnosis and is considered the “gold standard” [more info] |
| Treatment: | Cholesterol lowering medication and lifestyle modifications [more info] |
| Clinical Management: | Medication management and supportive therapy [more info] |
| Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Various clinical trails still recruiting |