Hereditary leiomyomatosis (HLRCC)

HLRCC is a rare inherited condition that predisposes people to develop leiomyomas (benign smooth muscle tumours) in the skin and uterus, along with an increased risk of a specific, sometimes aggressive, type of kidney cancer. Recognising this condition is important because the associated kidney cancer can behave more aggressively than some other kidney cancer types, so specific screening is recommended. It is caused by a specific inherited gene mutation.

It is caused by inherited mutations in the FH gene, which normally helps regulate cellular energy metabolism, and is inherited in an autosomal dominant pattern, meaning each child of an affected parent has a 50% chance of inheriting the condition. Genetic testing can confirm the diagnosis in someone with relevant clinical features or family history. Recognising the syndrome, often triggered by identifying multiple skin or uterine leiomyomas at a young age, is important for guiding appropriate cancer screening.

Common features include multiple, sometimes painful, skin leiomyomas (firm nodules), and in women, uterine fibroids (leiomyomas) often occurring at a younger age and in greater number than typical fibroids. Kidney cancer, when it develops, may cause symptoms such as blood in the urine or flank pain, though it can also be found through screening before symptoms develop. Not everyone with the condition develops kidney cancer, but the risk is significantly increased compared with the general population.

The skin and uterine leiomyomas themselves are benign, though they can cause discomfort or, for uterine fibroids, gynaecological symptoms needing management. The more serious concern is the increased risk of a specific type of kidney cancer, which in HLRCC can behave more aggressively and spread earlier than other kidney cancer types, making regular screening particularly important. With appropriate screening and, when needed, early treatment, outcomes for the kidney cancer risk can be significantly improved. This is why genetic diagnosis and appropriate ongoing screening matter considerably for this condition.

Yes, it is an autosomal dominant genetic condition, meaning each child of an affected parent has a 50% chance of inheriting it. Genetic testing can confirm the diagnosis and identify at-risk family members who should also be considered for testing and appropriate screening. Genetic counselling helps families understand the implications of a diagnosis, both for the individual and other relatives.

Management includes regular kidney imaging (often annual MRI) to screen for kidney cancer, given the increased and potentially more aggressive risk associated with this condition, alongside management of skin and uterine leiomyomas as needed for symptoms. If kidney cancer is found, prompt treatment, usually surgical, is recommended given the tendency of HLRCC-associated kidney cancer to be more aggressive. A specialist multidisciplinary team, including genetics, urology, and gynaecology as relevant, coordinates this comprehensive care.

There is no cure for the underlying genetic condition itself, but with regular screening and prompt treatment of any kidney cancer found, particularly while still small and localised, outcomes can be significantly improved. Skin and uterine leiomyomas, being benign, are managed for symptom control rather than needing to be "cured." Lifelong screening remains an important part of managing this condition, given the ongoing cancer risk.

Typical, sporadic uterine fibroids and kidney cancer occur without an underlying inherited genetic syndrome and generally do not carry the same pattern of increased, aggressive kidney cancer risk seen in HLRCC. Recognising features suggestive of HLRCC, such as multiple skin leiomyomas alongside early-onset or numerous uterine fibroids, or a family history of similar findings or kidney cancer, is important because it changes the recommended screening and management approach considerably. Genetic testing can confirm whether an underlying syndrome like HLRCC is present when these suggestive features are noted.

See a doctor if you have multiple skin leiomyomas, early-onset or numerous uterine fibroids, or a family history of unusual kidney cancer or similar features, so genetic assessment can be considered. A private genetics or urology referral for assessment can typically be arranged within about one to two weeks. Once a diagnosis is confirmed, ensuring you are enrolled in regular kidney screening, rather than waiting for symptoms, is an important next step given the specific cancer risk involved.