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Xanthomatosis cerebrotendinous

Xanthomatosis cerebrotendinous: Introduction

Xanthomatosis cerebrotendinous: 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 Xanthomatosis cerebrotendinous is available below.

Symptoms of Xanthomatosis cerebrotendinous

Treatments for Xanthomatosis cerebrotendinous

  • 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...»

Home Diagnostic Testing

Home medical testing related to Xanthomatosis cerebrotendinous:

Wrongly Diagnosed with Xanthomatosis cerebrotendinous?

Xanthomatosis cerebrotendinous: Related Patient Stories

Xanthomatosis cerebrotendinous: Complications

Review possible medical complications related to Xanthomatosis cerebrotendinous:

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

Causes of Xanthomatosis cerebrotendinous

  • 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 Xanthomatosis cerebrotendinous:

Disease Topics Related To Xanthomatosis cerebrotendinous

Research the causes of these diseases that are similar to, or related to, Xanthomatosis cerebrotendinous:

Less Common Symptoms of Xanthomatosis cerebrotendinous

Xanthomatosis cerebrotendinous: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Xanthomatosis cerebrotendinous

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Xanthomatosis cerebrotendinous: Research Doctors & Specialists

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Other doctor, physician and specialist research services:

Xanthomatosis cerebrotendinous: Rare Types

Rare types of diseases and disorders in related medical categories:

Evidence Based Medicine Research for Xanthomatosis cerebrotendinous

Medical research articles related to Xanthomatosis cerebrotendinous include:

Click here to find more evidence-based articles on the TRIP Database

Xanthomatosis cerebrotendinous: Animations

Prognosis for Xanthomatosis cerebrotendinous

Prognosis for Xanthomatosis cerebrotendinous: 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.

Research about Xanthomatosis cerebrotendinous

Visit our research pages for current research about Xanthomatosis cerebrotendinous treatments.

Clinical Trials for Xanthomatosis cerebrotendinous

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Xanthomatosis cerebrotendinous include:

Statistics for Xanthomatosis cerebrotendinous

Xanthomatosis cerebrotendinous: Broader Related Topics

User Interactive Forums

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Definitions of Xanthomatosis cerebrotendinous:

Xanthomatosis cerebrotendinous is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Xanthomatosis cerebrotendinous, or a subtype of Xanthomatosis cerebrotendinous, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Xanthomatosis cerebrotendinous as a "rare disease".
Source - Orphanet

 

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