Which specialist consultations are beneficial to patients with low LDL cholesterol syndromes?

Updated: Mar 06, 2018
  • Author: Vibhuti N Singh, MD, MPH, FACC, FSCAI; Chief Editor: George T Griffing, MD  more...
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Patients who present with advanced complications of abetalipoproteinemia (ABL) or familial hypobetalipoproteinemia (FHBL), as well as the patients' first-degree relatives, require a comprehensive evaluation for the diagnosis and management of these conditions and for genetic counseling. [5] Expertise from the following consultants may be needed:

  • Lipidologist - Patients with ABL or FHBL may require an extensive and time-consuming assessment, including genetic studies and chromosomal analyses. A lipidologist at a major center specializing in the disorders of lipid metabolism is the most appropriate consultant to involve from the start.

  • Gastroenterologist - In patients with malabsorption syndrome, a thorough assessment by a gastroenterologist is necessary to exclude the many other common causes of this condition.

  • Hepatologist - Patients presenting with transaminase elevation and hepatic enlargement may require specialized evaluation by a liver specialist.

  • Ophthalmologist - Patients require assessment of any visual disturbance by an ophthalmologist. They also may need monitoring and periodic follow-up assessments for the development of retinal degeneration.

  • Neurologist - A complete neurologic evaluation is necessary in each patient. Patients, particularly those who present with gait disturbances or ataxia, need a thorough evaluation and subsequent monitoring of any spinocerebellar degeneration.

  • Nutritionist - A nutritionist must carefully evaluate the diets of patients with ABL or FHBL and suggest appropriate modifications. [21]

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