Isolated hyperCKemia explained

Isolated hyperCKemia
Synonyms:Asymptomatic hyperCKemia
Symptoms:None other than high levels of creatine kinase in the blood
Complications:None
Onset:Birth
Duration:Life-long
Prevention:none
Management:-->
Medication:None required
Prognosis:Good
Frequency:Unknown, since almost all cases are asymptomatic

Isolated hyperCKemia is a benign[1] genetic disorder which is characterized by high levels of creatine kinase (an enzyme) in the blood, usually, levels of CK in the blood of people with this disorder are 3 to 10 times higher than average. Unlike what most people experience when their CK blood levels are high,[2] people with this disorder don't experience any symptoms, less commonly, people with isolated hyperCKemia have microscopic muscle cell abnormalities. This condition is a type of caveolinopathy since it is associated with the CAV3 gene, in chromosome 3.[3] [4] Although it is asymptomatic, people with this variant of hyperCKemia have an elevated risk of suffering from malignant hyperthermia.[5]

Notes and References

  1. Klinis . Spyridon . Symeonidis . Athanasios . Karanasios . Dimitrios . Symvoulakis . Emmanouil K. . 2017-01-01 . Asymptomatic hyperCKemia during a two‑year monitoring period: A case report and literature overview . Biomedical Reports . 6 . 1 . 79–82 . 10.3892/br.2016.822 . 2049-9434 . 5244789 . 28123712.
  2. Web site: HyperCKemia . 2022-05-21 . Practical Neurology . en.
  3. Web site: Isolated hyperCKemia: MedlinePlus Genetics . 2022-05-21 . medlineplus.gov . en.
  4. Web site: VSource .
  5. Rubegni . Anna . Malandrini . Alessandro . Dosi . Claudia . Astrea . Guja . Baldacci . Jacopo . Battisti . Carla . Bertocci . Giulia . Donati . M. Alice . Dotti . M. Teresa . Federico . Antonio . Giannini . Fabio . 2019-08-16 . Next-generation sequencing approach to hyperCKemia . Neurology: Genetics . 5 . 5 . e352 . 10.1212/NXG.0000000000000352 . 2376-7839 . 6705647 . 31517061.