Rare Disease Day – Learn About Rare Dieases

The Foundation of the National Lipid Association supports Rare Disease Day taking place on Monday, February 29, 2016. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision makers about rare diseases and their impact on patients’ lives. The Foundation of the National Lipid Association is helping to raise awareness by drawing attention to these rare diseases and how prevalent they really are.

Familial Hypercholeterolemia (FH) Facts:

About 1 in 200 to 1 in 500 people worldwide have FH.

In the United States alone, an estimated 1.3 million people live with FH. Yet only 10% of them are diagnosed. Can you imagine? Nearly 2 million people in the US might have FH and not even know it. Perhaps they won’t know it until they have a heart attack! This is what we want to change!

  • Over 90% of people with FH have not been properly diagnosed. (1)
  • FH runs in families. If one parent has FH, each child has a 50% chance of having FH. (2)
  • 1 in 250 people in the world have FH. (1)
  • An estimated 1.3 million people in the U.S. have FH. (1)
  • If left untreated, men have a 50% rise of having a heart attack by age 50. Untreated women have a 30% risk by age 60. (3)
  • 1 in 160,000 to 1 in 1 million people have HoFH.  (1)
  • FH is even more common in certain populations such as French Canadians, Ashkenazi Jews, Lebanese, and South African Afrikaners. In these populations FH may be found as frequently as 1 in every 67 people.
  1. Nordestgaard B G et al. Eur Heart J: 2013, 34:3478-3490
  2. Goldstein JL et al. Familial hypercholesterolemia. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001:2863-2913
  3. Marks D, Thorogood M, Neil HA et al. A review on the diagnosis, natural history, and treatment of familial hypercholesterolemia. Athersclerosis 2003;168:1-14.

Information gathered from The FH Foundation.


Lysosomal Acid Lipase Deficiency (LAL-D) Facts:

Prevalence of LAL-D:

As there is limited published information about the incidence of LAL-D, the precise prevalence of impacted patients is unknown. (1)
Misdiagnosis of LAL-D is suspected due to overlap in clinical presentation with other conditions, including: (2)

  • Wilson disease (3)
  • Nonalcoholic fatty liver disease/nonalcoholic steatohepatitis (2)
  • Metabolic syndrome (2)
  • Heterozygous familial hypercholesterolemia (2)
  • Familial combined hyperlipidemia (2)

LAL-D affects patients of all ages, with frequent pediatric onset—early complications are an urgent threat. (1)

References:  1. Bernstein DL, et al. J Hepatol. 2013;58:1230-43. doi:10.1016/j.jhep.2013.02.014.  2. Reiner Ž, et al. Atherosclerosis. 2014;235:21-30. doi:10.1016/j.atherosclerosis.2014.04.003.  3. Roberts EA, et al. Hepatology. 2008;47:2089-111. doi:10.1002/hep.22261.

Information gathered from LALDSource.com.

Progressive liver damage and premature death caused by LAL-D:

Nearly 90% mortality seen within 1 year of birth in infants with LAL-D. (1)

  • Infants experience profound growth failure,liver fibrosis, cirrhosis, and a median age of death of 3.7 months (1)

In pediatric and adult patients with LAL-D with a clinical biopsy assessment, nearly 50% progress to fibrosis, cirrhosis, or liver transplant within 3 years of symptom onset. (2)

  • In a separate review of 135 pediatric and adult patients with LAL-D:
    • 64% (72/112) of biopsied patients showed fibrosis and/or cirrhosis (3)
    • 29% (33/112) showed cirrhosis (3)
  • Studies on NAFLD and NASH report lower rates of disease progression compared with LAL-D:
    • Of 67 pediatric patients with biopsy-proven NAFLD, only 15% showed significant fibrosis (4)
    • Of 144 patients with biopsy-proven NASH, only 17% showed cirrhosis (5) 

Regardless of age at diagnosis, patients with LAL-D face a risk of early mortality and significant morbidity. (1-3)

References: 1. Jones SA, et al. Genet Med [published online August 27, 2015]. doi:10.1038/gim.2015.108. 2. Data on file, Alexion Pharmaceuticals. 3. Bernstein DL, et al. J Hepatol. 2013;58:1230-43. doi:10.1016/j.jhep.2013.02.014. 4. Alkhouri N, et al. Liver Int. 2013;33:79-85. doi:10.1111/liv.12024. 5. Angulo P, et al. Hepatology. 1999;30:1356-62.

Information gathered from LALDSource.com.


Familial Chylomicronemia Syndrome (FCS) Facts:

Familial chylomicronemia syndrome is an autosomal recessive genetic condition. In order to have it, a person needs two copies of defective genes—one from each parent. These genes are portions of DNA, the heritable material passed down from parents to children. About 1 in 500 people are thought to carry one of these defective genes. Nearly one hundred mutations have been identified that cause the syndrome.

Prevalence
An estimated 1 in 1 million people have FCS. However, the exact prevalence is currently unknown since the condition may not get properly diagnosed. A so-called founder population has been identified in Quebec, Canada and in the Netherlands, and the prevalence of FCS in these populations is as high as 19-20 in 1 million people.

Information gathered from Rare Disease Report and Chylomicronemia Syndrome Resource Center.

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