Medical Care

Early diagnosis of CTX is imperative because it is a treatable disease. This early diagnosis depends on recognition of early signs and symptoms, specifically the combination of diarrhea and cataracts. A recent publication has compiled expert opinion on best practices for patient management.^[76]

Surgical Care

Lensectomy and intraocular lens placement may be indicated for patients with visually significant cataracts. Surgical removal of tendon xanthomas is not recommended. One patient is reported to have undergone liver transplantation in infancy due to liver failure.^[73]

Consultations

Consultation with the following may be indicated:

Gastroenterologist
Ophthalmologist
Metabolic and genetic disease specialist
Developmental specialist
Neurologist
Orthopedist
Cardiologist
Lipid disorder specialist

Diet

A diet low in cholestanol containing foods (eg, egg yolk, butter, cheddar cheese) can significantly reduce plasma cholestanol and cholesterol levels; however, true clinical benefit is not seen unless pharmacologic therapy is also started. Dietary restriction probably is not necessary if pharmacologic treatment is commenced (see below).

Prevention

Therapy with CDCA can halt and reverse symptoms of the illness, including GI and neurologic complications.

Parents who both are known to be carriers for mutations in CYP27A1 can undergo in vitro fertilization with preimplantation genetic diagnosis to exclude implantation of embryos with biallelic mutations in CYP27A1.

Long-Term Monitoring

The annual examination in patients with CTX should consist of the following^[7]:

Neurologic and neuropsychologic evaluation
Cholestanol plasma concentration assessment. Elevated cholestanol results (or changes in clinical status) may warrant further investigation and potential treatment modification. Other biomarkers may be useful to more rapidly monitor treatment efficacy compared to cholestanol.
Liver enzymes
Brain MRI in selected cases
Echocardiography when indicated
Bone mineral density assessment when indicated

Medication

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Media Gallery

Sixteen-year-old male with cerebrotendinous xanthomatosis. Note the xanthomas on his knuckles.
Sixteen-year-old male with cerebrotendinous xanthomatosis.
Xanthomas of the Achilles tendon. Photo courtesy of William Connor, MD, Oregon Health and Science University.
Xanthomas on the knees in a patient with cerebrotendinous xanthomatosis. Photo courtesy of William Connor, MD, Oregon Health and Science University.

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Author

Austin Larson, MD Assistant Professor, Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado School of Medicine; Physician, Children's Hospital Colorado

Austin Larson, MD is a member of the following medical societies: Alpha Omega Alpha, Gold Humanism Honor Society, Society for Inherited Metabolic Disorders

Disclosure: Nothing to disclose.

Coauthor(s)

Andrea E DeBarber, PhD Research Associate Professor, Department of Chemical Physiology and Biochemistry, Associate Director, Bioanalytical Shared Resource Facility, Oregon Health and Science University; Director, Bioanalytical MS Facility, Portland State University

Andrea E DeBarber, PhD is a member of the following medical societies: American Chemical Society, American Society for Mass Spectrometry

Disclosure: Received research grant from: Retrophin, Inc, US distributor of Chenodal (chenodeoxycholic acid) Received income in an amount equal to or greater than $250 from: Retrophin, Inc, US distributor of Chenodal (chenodeoxycholic acid).

Robert D Steiner, MD, FAAP, FACMG Professor (Clinical), Department of Pediatrics, University of Wisconsin School of Medicine and Public Health; Editor-in-Chief, Genetics in Medicine; Chief Medical Officer, PreventionGenetics

Robert D Steiner, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics and Genomics, American Society of Human Genetics, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: PreventionGenetics, ACMG, Acer Therapeutics; Raptor, Retrophin/Travere, Censa; Biomarin; Best Doctors, Health Advances, Precision for Health, E-scape Bio, PTC Therapeutics, CTX Alliance, Aeglea, Leadiant Serve(d) as a speaker or a member of a speakers bureau for: France Foundation, Medscape Received research grant from: Alexion Received income in an amount equal to or greater than $250 from: Marshfield Clinic, A, France Foundation, Medscape,PreventionGenetics, ACMG, Acer Therapeutics; Raptor, Retrophin/Travere, Censa; Biomarin; Best Doctors, Health Advances, Precision for Health, E-scape Bio, PTC Therapeutics, CTX Alliance, Aeglea, Leadiant Travel Support for: Pfizer.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Peter R Baker, II, MD, FAAP, FACMG Assistant Professor, Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine

Peter R Baker, II, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, Society for Inherited Metabolic Disorders

Disclosure: Nothing to disclose.

Acknowledgements

The authors would like to thank Matthias C. Kurth, MD, PhD, for review of the manuscript.