CONDITIONS WE TREAT

Fighting LAL-D Every Day

What is lysosomal acid lipase deficiency (LAL-D)?

LAL-D is a genetic and progressive ultra-rare metabolic disease associated with multiorgan damage in infant, pediatric, and adult patients and premature death in infants.1 In patients with LAL-D, genetic mutations result in a decrease or loss in activity of the LAL enzyme, leading to continuous accumulation of cholesteryl esters and triglycerides in the liver, blood vessel walls, and other tissue. This can result in progressive complications in multiple organs, including the liver, spleen, and intestine.2,3

Tristan, diagnosed with LAL-D at 5 years old
TRISTAN
LIVING WITH LAL-D

LAL-D affects patients of all ages with clinical manifestations from infancy through adulthood and may have sudden and unpredictable clinical complications.2,3

Infants with LAL-D can face rapid disease progression over a period of weeks that is typically fatal within a matter of months. The median age of death in these patients is 3.7 months.4 Pediatric and adult patients with LAL-D face substantial disease burden.

Approximately 50% of children and adults with LAL-D progress to fibrosis, cirrhosis, or liver transplant within 3 years of clinical manifestation onset.5 The median age of onset in children and adults with LAL-D is 5.8 years (range 0 to 42 years).6 LAL-D can be diagnosed with a simple blood test.7

Symptom locations of LAL-D on the human body

Symptoms of LAL-D2,3

  • Multi-organ damage
  • Cardiovascular disease manifestations including dyslipidemia, accelerated atherosclerosis, coronary artery disease
  • Liver damage including fibrosis, cirrhosis, and failure
  • Failure to thrive and premature death

References:

  1. Kanuma [package insert]. New Haven, CT: Alexion Pharmaceuticals, Inc; 2015.
  2. Bernstein DL, Hülkova H, Bialer G, Desnick R. Chloesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58(6):1230-1243.
  3. Reiner Z, Guardamagna O, Nair D, et al. Lysosomal acid lipase deficiency—an under-recognized cause of dyslipidemia and liver dysfunction. Atherosclerosis. 2014;235(1):21-30.
  4. Jones SA, Valayannopoulos V, Schneider E, et al. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. Genet Med. 2016;18(5):452-458.
  5. Data on file. Alexion Pharmaceuticals, Inc. 2015.
  6. Burton BK, Deegan PB, Enns GM, et al. Clinical features of lysosomal acid lipase deficiency. J Pediatr Gastroenterol Nutr. 2015;61(6):619-625.
  7. Hamilton J, Jones I, Srivastana R, Galloway P. A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. Clin Chim Acta. 2012;413(15-16):1207-1210.

Maureen & Lauren, diagnosed with LAL-D at 8 and 12 years old
I know that they can deal with this or anything else and move on and live their lives.”
GREG, MAUREEN & LAUREN’S DAD LIVING WITH LAL-D

HEAR THEIR STORY
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