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What is Familial hyperchylomicronemia?

What is Familial hyperchylomicronemia?

  • Familial hyperchylomicronemia: A rare inherited inborn error of metabolism involving the absence of the enzyme called lipoprotein lipase which results in increased blood triglyeride and chylomicron levels.

Familial hyperchylomicronemia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Familial hyperchylomicronemia, or a subtype of Familial hyperchylomicronemia, 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 Familial hyperchylomicronemia as a "rare disease".
Source - Orphanet

Familial hyperchylomicronemia: Introduction

Types of Familial hyperchylomicronemia:

Broader types of Familial hyperchylomicronemia:

How many people get Familial hyperchylomicronemia?

Prevalance of Familial hyperchylomicronemia: 1 per 1 million suffer from familial lipoprotein lipase deficiency worldwide, Genetics Home Reference website
Prevalance Rate of Familial hyperchylomicronemia: approx 1 in 1,000,000 or 0.00% or 271 people in USA [about data]

Who gets Familial hyperchylomicronemia?

Racial predominance for Familial hyperchylomicronemia: increased prevalence in Quebec

What causes Familial hyperchylomicronemia?

Causes of Familial hyperchylomicronemia: see causes of Familial hyperchylomicronemia

What are the symptoms of Familial hyperchylomicronemia?

Symptoms of Familial hyperchylomicronemia: see symptoms of Familial hyperchylomicronemia

Can anyone else get Familial hyperchylomicronemia?

Inheritance: see inheritance of Familial hyperchylomicronemia

Familial hyperchylomicronemia: Testing

Diagnostic testing: see tests for Familial hyperchylomicronemia.

Misdiagnosis: see misdiagnosis and Familial hyperchylomicronemia.

How is it treated?

Doctors and Medical Specialists for Familial hyperchylomicronemia: Hematologist ; see also doctors and medical specialists for Familial hyperchylomicronemia.
Treatments for Familial hyperchylomicronemia: see treatments for Familial hyperchylomicronemia
Research for Familial hyperchylomicronemia: see research for Familial hyperchylomicronemia

Name and Aliases of Familial hyperchylomicronemia

Main name of condition: Familial hyperchylomicronemia

Other names or spellings for Familial hyperchylomicronemia:

Buerger-Gruetz syndrome, familial lipoprotein lipase deficiency, lipoprotein lipase deficiency, lipoid hepatosplenomegalia, hyperlipemia essential, fat-induced hyperlipemia, hyperlipoproteinemia type I, familial LPL deficiency, lipase D deficiency, LIPD deficiency, lipoprotein lipase deficiency, familial, familial fat-induced hypertriglyceridemia, Familial hyperchylomicronemia syndrome, Hyperlipoproteinemia, type 1, Lipoprotein lipase deficiency, LPL deficiency, Hyperlipemia, idiopathic, Burger-Grutz type

Familial hyperchylomicronemia syndrome, Hyperlipemia, idiopathic, Burger-Grutz type, Hyperlipoproteinemia, type i, LPL deficiency, Lipoprotein lipase deficiency, Hyperlipemia, essential familial, Hyperlipemia, idiopathic, burger-grutz type, LPL deficiency, Lipoprotein lipase deficiency, Familial hyperlipoproteinemia type I
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Familial hyperchylomicronemia: Related Conditions

Research the causes of these diseases that are similar to, or related to, Familial hyperchylomicronemia:


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