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Tests and diagnosis
By Mayo Clinic staffNo diagnostic test confirms progeria. Doctors typically make a diagnosis based on signs and symptoms, such as failure to grow and hair loss, that typically aren't fully evident until your child is nearly 2. However, with the discovery of the genetic mutation that causes progeria, it's possible to use genetic testing for LMNA mutations at the first suspicion of progeria. The sooner you know your child has progeria, the sooner your doctor can recommend treatments that may help ease the signs and symptoms of the disorder.
A blood test may reveal that your child has a low level of high-density lipoprotein (HDL) cholesterol, the so-called good cholesterol that helps keep arteries open. This laboratory finding isn't diagnostic by itself, but may lend support to a diagnosis of progeria.
- Learning about progeria. National Genome Research Institute. http://www.genome.gov/11007255. Accessed March 5, 2009.
- Progeria. National Institutes of Health. http://www.nih.gov/about/researchresultsforthepublic/Progeria.pdf. Accessed March 5, 2009.
- Progeria (Hutchinson-Gilford syndrome). The Merck Manuals Online Medical Library: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/sec19/ch286/ch286d.html. Accessed March 5, 2009.
- Brown TW. Progeria. In: Kliegman RM, et al. Kliegman: Nelson Textbook of Pediatrics. 18th ed. Saunders Elsevier; 2007. http://www.mdconsult.com/book/player/book.do?method=display&type=bookPage&decorator=header&eid=4-u1.0-B978-1-4160-2450-7..50092-X&uniq=124224571&isbn=978-1-4160-2450-7&sid=812951456. Accessed March 5, 2009.
- Brown TW. Hutchinson-Gilford progeria syndrome. National Institutes of Health: Gene Reviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hgps. Accessed March 5, 2009.
- Hutchison-Gilford progeria syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome. Accessed March 5, 2009.
- Anti-cancer drug prevents, reverses cardiovascular damage in mouse model of premature aging disorder. National Institutes of Health. http://www.nih.gov/news/health/oct2008/nhgri-06.htm. Accessed March 5, 2009.
- Martini R. Helping children cope with chronic illness. American Academy of Child and Adolescent Psychiatry. Accessed March 5, 2009.
