Low LDL Cholesterol (Hypobetalipoproteinemia) Follow-up

Updated: Mar 06, 2018
  • Author: Vibhuti N Singh, MD, MPH, FACC, FSCAI; Chief Editor: George T Griffing, MD  more...
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Follow-up

Further Outpatient Care

The following are elements of outpatient care:

  • Diet low in long-chain fatty acids

  • Antidiarrheal medication as needed

  • High-dose fat-soluble vitamin supplementation, particularly vitamin E

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Further Inpatient Care

Infants who present with failure to thrive may require additional monitoring and therapy in the hospital. This therapy may include the following:

  • Parenteral vitamin supplementation

  • Electrolyte and nutrient supplementation

Patients with spinocerebellar degeneration and severe gait disturbances may need supportive measures. They may also need orthotic appliances.

Visual assessment and therapy are indicated for retinal degeneration.

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Inpatient & Outpatient Medications

See the medications below:

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Transfer

Transfer is rarely required for patients who are finally identified as having abetalipoproteinemia (ABL) or familial hypobetalipoproteinemia (FHBL).

Patients with advanced spinocerebellar degeneration who are unable to walk may occasionally require transfer to a tertiary care facility. Any safe method of transfer is adequate for these patients.

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Deterrence/Prevention

Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are inherited disorders caused by genetic mutations.

Obligate heterozygotes (ie, parents or offspring of homozygote patients) and possible heterozygotes (ie, siblings) should be informed that if their spouse has a very low plasma cholesterol level, the possibility exists that their children could have homozygous or compound heterozygous hypobetalipoproteinemia. Such persons should be referred to a genetic counselor at a lipid clinic. [5]

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Complications

Complications include the following:

  • Gastrointestinal

    • Steatorrhea

    • Malabsorption of fat-soluble vitamins (ie, vitamins A, D, E, and/or K)

    • Steatorrhea-induced calcium malabsorption (may lead to rickets)

  • Ophthalmologic

    • Ophthalmoplegia

    • Retinal degeneration

  • Neurologic - Spinocellular degeneration

  • Hematologic - Acanthocytosis

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Prognosis

Prognosis is reasonably good for most patients who are diagnosed early.

  • Patients with prolonged vitamin deficiency, especially of vitamin E, may develop very limiting ataxia and gait disturbances.

  • Some patients may develop retinal degeneration and blindness.

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Patient Education

Educating patients about the implications of their disease is of paramount importance. They should be counseled about the possible long-term complications, including blindness and gait disturbances. The need for periodic monitoring should be emphasized.

  • Genetic counseling is needed for patients and their first-degree relatives. [5]

  • Nutritional counseling should include dietary recommendations for a low-fat diet (low in long-chain fatty acids) and advice to take prescribed vitamins as directed.

  • For excellent patient education resources, visit eMedicineHealth's Cholesterol Center. Also, see the eMedicineHealth's patient education articles Lowering High Cholesterol in Children and Cholesterol Charts.

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