What Is Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke?
Hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS)is a rare genetic disease that affects the inner lining of the blood vessels. This lining is called the endothelium, and a disease that affects the endothelium is known as an endotheliopathy. Specifically, the parts of the body that are affected include the small blood vessels of the brain (microangiopathy), retina (vascular retinopathy), and kidneys (nephropathy). Signs and symptoms may include progressive vision loss beginning in adulthood, psychiatric or neurological problems, an increased risk for a stroke, and kidney disease.
Researchers have discovered that HERNS is caused by genetic changes (mutations or pathogenic variants) in the TREX1 gene. There are other diseases that are also caused by pathogenic variants in TREX1. Two of these diseases are called cerebroretinal vasculopathy (CRV) and hereditary vascular retinopathy (HVR). These diseases have similar signs and symptoms with varying severity. All of these diseases together are known as retinal vasculopathy with cerebral leukodystrophy (RVCL). In many cases, the more general term RVCL is used to describe any of these diseases.
HERNS is inherited in an autosomal dominant manner. Diagnosis is based on observing symptoms of the disease and can be confirmed with genetic testing. Treatment options for HERNS may be limited, but medications or procedures may help slow the progression of symptoms.
Researchers have discovered that HERNS is caused by genetic changes (mutations or pathogenic variants) in the TREX1 gene. There are other diseases that are also caused by pathogenic variants in TREX1. Two of these diseases are called cerebroretinal vasculopathy (CRV) and hereditary vascular retinopathy (HVR). These diseases have similar signs and symptoms with varying severity. All of these diseases together are known as retinal vasculopathy with cerebral leukodystrophy (RVCL). In many cases, the more general term RVCL is used to describe any of these diseases.
HERNS is inherited in an autosomal dominant manner. Diagnosis is based on observing symptoms of the disease and can be confirmed with genetic testing. Treatment options for HERNS may be limited, but medications or procedures may help slow the progression of symptoms.
Source: Genetic and Rare Diseases (GARD) Information Center