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Van Bogaert-Scherer-Epstein Disease

Van Bogaert-Scherer-Epstein Disease: Introduction

Van Bogaert-Scherer-Epstein Disease: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed. More detailed information about the symptoms, causes, and treatments of Van Bogaert-Scherer-Epstein Disease is available below.

Symptoms of Van Bogaert-Scherer-Epstein Disease

Treatments for Van Bogaert-Scherer-Epstein Disease

  • Dietary changes: limit intake of foods containing cholestanol (butter, egg yolk and cheddar cheese)
  • Medication: Administration of cholic acid, chenodeoxycholic acid; HMG-CoA reductase inhibitors may be needed in more difficult cases
  • Cataracts may also require treatment
  • more treatments...»

Wrongly Diagnosed with Van Bogaert-Scherer-Epstein Disease?

Van Bogaert-Scherer-Epstein Disease: Complications

Review possible medical complications related to Van Bogaert-Scherer-Epstein Disease:

  • Premature atherosclerosis
  • Frequent fractures due to brittle bones
  • Premature death (type of Death) - due to heart attack or stroke
  • more complications...»

Causes of Van Bogaert-Scherer-Epstein Disease

  • The genetic condition is inherited in an autosomal recessive manner
  • The condition is inherited in an autosomal recessive manner
  • more causes...»

More information about causes of Van Bogaert-Scherer-Epstein Disease:

Less Common Symptoms of Van Bogaert-Scherer-Epstein Disease

Prognosis for Van Bogaert-Scherer-Epstein Disease

Prognosis for Van Bogaert-Scherer-Epstein Disease: The severity of the condition is very variable with some patients dying prematurely (during the 40's to 60's) if it is untreated. Death can occur as early as infancy in rare cases. Treatment can reduce the risk of complications and improve life spans. Early treatment can ensure a normal life expectancy.

Van Bogaert-Scherer-Epstein Disease: Broader Related Topics

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Definitions of Van Bogaert-Scherer-Epstein Disease:

A lipid storage disease, inherited as an autosomal recessive trait, characterized by xanthomas of the tendons, the white matter of the brain, and the lungs, and by spasticity, ataxia, pyramidal paresis, mental retardation, dementia, early cataracts, and atherosclerosis. It is associated with elevated plasma and tissue levels of cholestanol and defective bile synthesis, with the deposition of cholestanol in the central nervous system and myelin of peripheral nerves. The lesions contain cholesterol and dehydrocholesterol. (Dorland, 28th ed) - (Source - Diseases Database)

Related Van Bogaert-Scherer-Epstein Disease Info

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More information about Van Bogaert-Scherer-Epstein Disease

  1. Van Bogaert-Scherer-Epstein Disease: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Complications
  6. Prognosis

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