eMedicine Specialties > Endocrinology > Metabolic Disorders

Hypercholesterolemia, Familial: Follow-up

Author: Elena Citkowitz, MD, PhD, FACP, Clinical Professor of Medicine, Yale University School of Medicine; Director, Cholesterol Management Center, Director, Cardiac Rehabilitation, Department of Medicine, Hospital of St Raphael
Contributor Information and Disclosures

Updated: Aug 4, 2009

Follow-up

Deterrence/Prevention

  • Identifying relatives who are carriers of the FH gene allows medical intervention to prevent patients from developing CAD.
  • In addition to treating hypercholesterolemia, cardiovascular risk factors should be identified and treated aggressively. Advise patients to begin aerobic exercise and, if indicated, a weight-loss program.

Complications

  • The adverse effects of medications used to treat hypercholesterolemia can pose major, though uncommon, complications.
  • Statin therapy carries a negligible risk of liver toxicity.
  • Myositis progressing to rhabdomyolysis is a rare but life-threatening complication of statin therapy.
  • Statins in combination with a variety of medications (particularly cyclosporine, as well as gemfibrozil, verapamil, amiodarone, etc) increase the risk of myositis (see Medication).
  • Niacin may cause gout, peptic ulcer disease, increased insulin resistance, and severe hepatotoxicity. Fulminant hepatic failure has been reported with time-release niacin therapy.

Prognosis

  • Prognosis depends heavily on the extent to which LDLc levels can be reduced.
  • Patients with homozygous FH have and extremely limited life expectancy without major medical intervention.
  • Treatment of other modifiable risk factors such as smoking, hypertension, and diabetes further decreases the risk of CAD.
  • Because long-term prospective studies on subjects with FH are not available, precise predictions regarding improved outcomes are difficult.

Patient Education

Miscellaneous

Medicolegal Pitfalls

  • Failure to lower the LDLc level to goal
  • Failure to recognize symptoms consistent with coronary ischemia in adult patients with other CAD risk factors
  • Failure to identify affected relatives
    • Although the physician caring for a patient with FH is not directly responsible for the patient's relatives, good medical care dictates that other affected individuals should be identified whenever possible.
    • See Deterrence/Prevention for information on the MED-PED FH project, an organization that assists in identifying relatives of patients with FH.
  • Failure to recognize drug interactions
    • Patients treated with high-dose statins have a small risk of developing myositis, which can progress to life-threatening rhabdomyolysis.
    • If a medication that may increase the risk of myositis (eg, fibric acid derivative) is used, the symptoms of myositis should be described (ie, unexplained persistent and generalized muscle soreness or weakness). The risks and benefits of the drug combination should be discussed with the patient and should be well documented in the medical record.
    • If a patient develops muscle symptoms, the patient’s creatine kinase level should be checked immediately. If it is within the reference range, stopping the statin is not mandatory. Given the severity of hypercholesterolemia and risk of CAD, statin therapy is life saving, and a search should be made for some other cause of the symptoms before withdrawing the statin. In many large double-blind statin trials lasting 5 years, the incidence of muscle symptoms and increases in creatine kinase levels were no different in the treatment groups than in the placebo groups.
    • Although the administration of statins requires monitoring hepatic transaminase levels for at least 1 year, the risk of significant injury is insignificant, if it exists at all. Multiple large double-blind statin trials lasting 5 years have shown no difference in liver function test results or liver toxicity in the treatment groups compared to the placebo groups. Moreover, until transaminase levels increase to greater than 3 times the upper limit of normal, statins should be continued.

Special Concerns

  • Women with FH who want to or may become pregnant should stop statin therapy. Pregnant or breastfeeding women should not take statins.
  • Although LDLc levels are much higher baseline, the cholesterol levels of pregnant women with FH increase approximately the same amount as those without FH (approximately 30% over baseline). Triglyceride levels also increase to a similar extent, approximately doubling during the course of the pregnancy.
 


More on Hypercholesterolemia, Familial

Overview: Hypercholesterolemia, Familial
Differential Diagnoses & Workup: Hypercholesterolemia, Familial
Treatment & Medication: Hypercholesterolemia, Familial
Follow-up: Hypercholesterolemia, Familial
Multimedia: Hypercholesterolemia, Familial
References
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Further Reading

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Keywords

familial hypercholesterolemia, FH, heterozygous familial hypercholesterolemia, homozygous familial hypercholesterolemia, monozygous hypercholesterolemia, low-density lipoprotein cholesterol, LDL cholesterol, LDLc, hypercholesterolemia, coronary artery disease, CAD, premature CAD, coronary atherosclerosis, xanthelasma, xanthoma, valvular abnormalities, heart valve anomaly, aortic stenosis, heart disease, corneal arcus, planar xanthoma, tendon xanthoma, tuberous xanthoma, ischemic heart disease, peripheral vascular disease, cerebrovascular disease, lipid abnormalities, lipid abnormality, lipid disorder

lipid disease, coronary heart disease, CHD, high cholesterol, bad cholesterol, acute myocardial infarction, acute MI, palpebral xanthomas, Achilles tendonitis, cutaneous xanthomas, Achilles tendon xanthomas

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Contributor Information and Disclosures

Author

Elena Citkowitz, MD, PhD, FACP, Clinical Professor of Medicine, Yale University School of Medicine; Director, Cholesterol Management Center, Director, Cardiac Rehabilitation, Department of Medicine, Hospital of St Raphael
Elena Citkowitz, MD, PhD, FACP is a member of the following medical societies: American College of Physicians, American Heart Association, National Lipid Association, and Sigma Xi
Disclosure: Nothing to disclose.

Medical Editor

Gregory William Rutecki, MD, Associate Professor, Program Director, Department of Internal Medicine, Feinberg School of Medicine, Northwestern University
Gregory William Rutecki, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians, American Society of Nephrology, National Kidney Foundation, and Society of General Internal Medicine
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Yoram Shenker, MD, Chief of Endocrinology Section, Veterans Affairs Medical Center of Madison; Interim Chief, Associate Professor, Department of Internal Medicine, Section of Endocrinology, Diabetes and Metabolism, University of Wisconsin at Madison
Yoram Shenker, MD is a member of the following medical societies: American Heart Association, Central Society for Clinical Research, and Endocrine Society
Disclosure: Nothing to disclose.

CME Editor

Mark Cooper, MBBS, PhD, FRACP, Head, Diabetes & Metabolism Division, Baker Heart Research Institute, Professor of Medicine, Monash University
Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD, Professor of Medicine, St Louis University School of Medicine
George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical Investigation
Disclosure: Nothing to disclose.

 
 
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