From the Guidelines
The most common cause of cyst formation is genetic factors, such as autosomal dominant polycystic kidney disease (ADPKD), which is the most common genetic disease in adults, with an estimated prevalence of 1 in 500–2,500 1. This occurs in various body locations and can result from several mechanisms. In the skin, sebaceous cysts form when sebum-producing glands become blocked, while ovarian cysts often develop when follicles fail to release eggs properly during menstruation. Inflammation can trigger cyst formation as the body walls off infected or irritated areas. Trauma may lead to cyst development when blood or other fluids collect and become encapsulated. Cellular abnormalities can also cause cysts, as seen in dermoid cysts containing tissue types not normally found in that location. Some key points to consider include:
- Genetic factors play a significant role in certain types of cysts, such as polycystic kidney disease, with ADPKD being the most common genetic disease in adults 1.
- The blockage of ducts or glands that prevent normal fluid drainage can lead to fluid accumulation within a confined space, resulting in cyst formation.
- Inflammation and trauma can also trigger cyst formation, and cellular abnormalities can cause cysts in various locations. While most cysts are benign and may resolve spontaneously, persistent or symptomatic cysts might require drainage or surgical removal depending on their location, size, and associated symptoms, as noted in the context of kidney involvement in tuberous sclerosis complex 1. It's also worth considering that oestrogen exposure is considered a key driver of cyst growth in certain conditions, such as polycystic liver disease (PLD) 1, and that genetic testing may be available for some types of cysts, but its role in routine clinical practice is limited due to the complexity of interpreting mutational findings 1. Additionally, some cysts may be associated with an increased risk of malignancy, such as acquired cystic disease-associated renal cell carcinoma (ACD-RCC) 1.
From the Research
Cyst Formation Causes
- The most common cause of cyst formation is not explicitly stated in the provided studies, but it can be inferred that genetic disorders, such as autosomal dominant polycystic kidney disease (ADPKD), play a significant role in cyst development 2, 3.
- ADPKD is characterized by the presence of fluid-filled cysts primarily in the kidneys, and it is caused by mutations in the PKD1 or PKD2 genes, which encode polycystin 1 and polycystin 2 3.
- Cyst formation can also occur in other organs, such as the liver, pancreas, esophagus, ovary, uterus, and brain, in patients with ADPKD 4.
- However, the frequency of ovarian cysts in women with ADPKD is not significantly different from that in the general population 5.
- Other factors, such as ductal blockage, can also contribute to cyst formation, as seen in the case of Bartholin duct cysts and gland abscesses 6.
Genetic Factors
- Mutations in the PKD1 and PKD2 genes are the underlying cause of ADPKD, which is the most common inherited cause of end-stage kidney disease worldwide 2, 3.
- The loss of function of the protein complex formed by polycystin 1 and polycystin 2 triggers cyst initiation, leading to dysregulation of multiple metabolic processes and downstream pathways 2.