Symptoms
Skin Leiomyomas (cutaneous leiomyomas): These are typically small, firm, raised bumps or nodules on the skin. They can be painful, especially when touched or exposed to cold. They usually appear on the trunk, limbs, and face.
Uterine Leiomyomas (fibroids): In women, these noncancerous tumors in the uterus can cause heavy menstrual bleeding, pelvic pain, frequent urination, and infertility.
Renal Cell Cancer: Affected individuals have an increased risk of developing renal cell carcinoma, often at a younger age than usual.
Pain: Intense pain in affected areas.
Causes
Reed syndrome is caused by mutations in the fumarate hydratase (*FH*) gene. This gene provides instructions for making an enzyme that is important for energy production within cells. Mutations in the *FH* gene disrupt this process, leading to the development of leiomyomas and an increased risk of renal cell cancer. It is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is sufficient to cause the disorder.
Medicine Used
There is no specific cure for Reed syndrome, and treatment focuses on managing the symptoms and complications.
Pain Management: Pain relievers (NSAIDs, neuropathic pain medications) for cutaneous leiomyomas.
Uterine Fibroid Treatment: Hormonal therapies (birth control pills, GnRH agonists), myomectomy (surgical removal of fibroids), hysterectomy (surgical removal of the uterus).
Renal Cell Cancer Treatment: Surgery (nephrectomy) is the primary treatment for renal cell carcinoma. Targeted therapies and immunotherapies may also be used, depending on the stage and characteristics of the cancer.
Is Communicable
Reed syndrome is not communicable. It is a genetic disorder caused by a mutation in the FH gene and is inherited from parents to offspring. It cannot be spread through contact with an affected individual.
Precautions
Genetic Counseling: Families with a history of Reed syndrome should seek genetic counseling to understand the risk of passing the gene to their children.
Regular Screening: Individuals with Reed syndrome should undergo regular screening for renal cell cancer, including abdominal imaging (MRI or CT scans), starting at a young age.
Pain Management: Implement appropriate pain management strategies to cope with leiomyoma-related pain.
Monitor Uterine Fibroids: Women with Reed syndrome should have regular gynecological exams to monitor uterine fibroids.
How long does an outbreak last?
Reed Syndrome is a chronic condition, not an acute "outbreak." The symptoms of skin and uterine leiomyomas can be ongoing and require continuous management. Renal cell cancer can develop at any time and requires monitoring. The length of time that an individual experiences symptoms depends on the severity of their condition and how well their symptoms are managed.
How is it diagnosed?
Clinical Evaluation: A doctor will evaluate a patient's symptoms, medical history, and family history.
Skin Biopsy: A biopsy of a skin lesion can confirm the presence of leiomyoma cells.
Imaging Studies: Ultrasound, MRI, or CT scans can be used to detect uterine fibroids and renal tumors.
Genetic Testing: Genetic testing for mutations in the FH gene can confirm the diagnosis of Reed syndrome.
Timeline of Symptoms
The timeline of symptoms can vary, but a general outline is:
Childhood/Adolescence: Skin leiomyomas may start to appear.
Reproductive Years (Women): Uterine fibroids may develop and cause symptoms like heavy bleeding and pelvic pain.
Adulthood: Renal cell cancer can develop at any age, but there is an increased risk starting in adulthood.
Important Considerations
Family History: A family history of skin leiomyomas, uterine fibroids, or renal cell cancer should raise suspicion for Reed syndrome.
Early Diagnosis: Early diagnosis and regular screening are essential for detecting and treating renal cell cancer at an early stage.
Multidisciplinary Care: Management of Reed syndrome requires a multidisciplinary approach involving dermatologists, gynecologists, urologists, oncologists, and geneticists.
Pregnancy: Pregnancy can exacerbate symptoms related to uterine fibroids.
Psychological Support: Living with a chronic condition and the risk of cancer can be challenging, and psychological support may be beneficial.