Genetic testing recommended for family members of Fabry patients

Early diagnosis and treatment can improve life span and quality of life, study says

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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Testing family members of people diagnosed with Fabry disease can identify new individuals with the condition and improve their health outcomes, a recent study highlights.

“Family screening is of great significance in finding new patients with [Fabry disease],” the researchers wrote. “Therefore, genetic counseling should be recommended to all families with [Fabry disease] patients.”

The study, “Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry’s disease,” was published in the journal Frontiers in Pediatrics. In genetics, a pedigree refers to a group of people who are biologically related to each other.

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Family Genetic Screening of 331 People Detects 165 New Fabry Cases

Study investigated 5 children diagnosed with Fabry

Fabry disease is caused by mutations in the gene that provides instructions for making an enzyme called alpha-galactosidase A. Without a functional version of this enzyme, certain fatty molecules build up to toxic levels in several tissues and organs in the body, ultimately giving rise to disease symptoms.

In this study, a team of scientists at Chengdu Women’s and Children’s Central Hospital, in China, reported the clinical characteristics of five children who were diagnosed with Fabry disease at their center from October 2021 to May 2022.

Among the five children (four males and one female), the age at diagnosis ranged from about 1 year to just over 13 years. Three had classic Fabry, while the other two were diagnosed with late-onset disease.

The oldest patient was diagnosed after several years of experiencing pain attacks. He also had an abnormally short stature and had not shown any signs of beginning puberty by age 13, which is unusual. Genetic and enzyme testing eventually led to a diagnosis of Fabry disease.

After the first patient was diagnosed, his 1-year-old half-brother was also tested and found to harbor the same disease-causing mutation. His mother was also found to be a mutation carrier.

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Fifth child carried mutation that developed de novo

Two of the other children were also diagnosed due to a family history of Fabry disease. One, with a history of intermittent foot pain, was diagnosed at the age of 6 after his mother and uncle were diagnosed with the disease. Another, who did not have any obvious symptoms, was diagnosed at age 7 after her father was found to have Fabry disease.

The fifth child in the report did not have any family history of Fabry. His mutation appeared to have developed de novo, meaning it was present only in him, but not in either of his parents. He was diagnosed as a toddler by genetic sequencing, which was ordered because he was unusually small for his age and was not growing at a normal rate.

The two patients diagnosed as infants and the 7-year-old who did not yet have any symptoms are being monitored, according to the researchers. The other two children have started on enzyme replacement therapy (ERT), and for both, treatment has helped to alleviate their symptoms.

“The early diagnosis of [Fabry disease], regular monitoring of confirmed cases in childhood, initiation of ERT treatment, and holistic lifestyle management can effectively prolong the life span and quality of life of patients,” the researchers wrote.