Reed’s syndrome

Overview

Reed’s syndrome (also known as Hereditary leiomyomatosis and renal cell cancer (HLRCC), multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL)) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer.

 

Source: Genetics Home Reference 

Symptoms

 In this disorder, growths on the skin (cutaneous leiomyomas) typically develop in the third decade of life. Most of these growths arise from the tiny muscles around the hair follicles that cause "goosebumps". They appear as bumps or nodules on the trunk, arms, legs, and occasionally on the face. Cutaneous leiomyomas may be the same color as the surrounding skin, or they may be darker. Some affected individuals have no cutaneous leiomyomas or only a few, but the growths tend to increase in size and number over time. Cutaneous leiomyomas are often more sensitive than the surrounding skin to cold or light touch, and may be painful.

 Most women with HLRCC also develop uterine leiomyomas (fibroids). While uterine fibroids are very common in the general population, women with HLRCC tend to have numerous large fibroids that appear earlier than in the general population.

 Approximately 10 percent to 16 percent of people with HLRCC develop a type of kidney cancer called renal cell cancer. The signs and symptoms of renal cell cancer may include lower back pain, blood in the urine, or a mass in the kidney that can be felt upon physical examination. Some people with renal cell cancer have no symptoms until the disease is advanced. The average age at which people with HLRCC are diagnosed with kidney cancer is in their forties.

Source: Genetics Home Reference

Causes

Reed’s syndrome is caused by mutations in the fumarate hydratase (FH) gene. The FH gene provides instructions for making an enzyme called fumarate hydratase (also known as fumarase). This enzyme participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy.

People with HLRCC are born with one mutated copy of the FH gene in each cell. The second copy of the FH gene in certain cells may also acquire mutations as a result of environmental factors such as ultraviolet radiation from the sun or a mistake that occurs as DNA copies itself during cell division.

FH gene mutations may interfere with the enzyme's role in the citric acid cycle, resulting in a buildup of fumarate. Researchers believe that the excess fumarate may interfere with the regulation of oxygen levels in the cell. Chronic oxygen deficiency (hypoxia) in cells with two mutated copies of the FH gene may encourage tumor formation and result in the tendency to develop leiomyomas and renal cell cancer.

 Source: HLRCC Alliance; Genetics Home Reference

Prevention

Screening for HLRCC is very important, because even small HLRCC kidney tumors can metastasize, or spread, very quickly to the bones, lungs and brain. Screening requires an annual MRI (1-3 mm slices) for the detection of kidney cancer.

 

Source: HLRCC Alliance

Diagnosis

When you encounter the abovementioned symptomes, plese contact your physician.

Gene tests are available in a number of service laboratories worldwide. 

Prognosis

Both men and women tend to develop benign skin leiomyomas (or “skin bumps”) in their twenties. These two symptoms together, fibroids and skin leiomyomas, offer an important clue to the need for genetic testing of the FH gene. Because of the absence of uterine fibroids, HLRCC is more likely to go undetected in men, and early diagnosis is less likely.

Treatment

Unlike some other cancers, there is no curative treatment for kidney cancer once it metastasizes, although life may be extended with the latest class of drugs. 

 

Source: HLRCC Alliance