Low LDL Cholesterol (Hypobetalipoproteinemia) Questions & Answers

Updated: Mar 06, 2018
  • Author: Vibhuti N Singh, MD, MPH, FACC, FSCAI; Chief Editor: George T Griffing, MD  more...
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Questions & Answers

Overview

Which syndromes cause low LDL cholesterol?

What is abetalipoproteinemia (ABL)?

What is familial hypobetalipoproteinemia (FHBL)?

What is the pathophysiology of low LDL cholesterol syndromes?

What is the role of beta apolipoproteins in the pathophysiology of abetalipoproteinemia (ABL)?

What is the role of genetics in the pathophysiology of abetalipoproteinemia (ABL)?

What is the role of vitamin E in the pathophysiology of abetalipoproteinemia (ABL)?

What is the role of genetics in the pathophysiology of familial hypobetalipoproteinemia (FHBL)?

What causes secondary hypobetalipoproteinemia?

What is the prevalence of low LDL cholesterol syndromes in the US?

What is the global prevalence of low LDL cholesterol syndromes?

What is the morbidity and mortality associated with abetalipoproteinemia (ABL)?

What is the morbidity and mortality associated with familial hypobetalipoproteinemia (FHBL)?

What are the racial predilections of low LDL cholesterol syndromes?

What are the sexual predilections of low LDL cholesterol syndromes?

At what age are low LDL cholesterol syndromes typically diagnosed?

Presentation

What are the signs and symptoms of low LDL cholesterol syndromes?

Which physical findings are characteristic of low LDL cholesterol syndromes?

What causes low LDL cholesterol syndromes?

DDX

What are the differential diagnoses for Low LDL Cholesterol (Hypobetalipoproteinemia)?

Workup

What is the role of lab testing in the workup of low LDL cholesterol syndromes?

What is the role of imaging studies in the workup of low LDL cholesterol syndromes?

How is a diagnosis of a low LDL cholesterol syndrome confirmed?

What is the role of biopsy in the workup of low LDL cholesterol syndromes?

Which histologic findings are characteristic of low LDL cholesterol syndromes?

Treatment

How are low LDL cholesterol syndromes treated?

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

Which dietary modifications are used in the treatment of low LDL cholesterol syndromes?

Which activity modifications are used in the treatment of low LDL cholesterol syndromes?

Medications

What is the role of medications in the treatment of low LDL cholesterol syndromes?

Which medications in the drug class Vitamins are used in the treatment of Low LDL Cholesterol (Hypobetalipoproteinemia)?

Follow-up

What is included in the long-term outpatient care of low LDL cholesterol syndromes?

When is inpatient care indicated for the treatment of low LDL cholesterol syndromes?

Which medications are used in the treatment of low LDL cholesterol syndromes?

When is patient transfer indicated for the treatment of low LDL cholesterol syndromes?

How low LDL cholesterol syndromes prevented?

What are the possible complications of low LDL cholesterol syndromes?

What is the prognosis of low LDL cholesterol syndromes?

What is included in patient education about low LDL cholesterol syndromes?