Hereditary endotheliopathy, retinopathy, nephropathy, and stroke

What causes hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS)?

Hereditary retinopathy, nephropathy, and stroke (HERNS) is caused by genetic changes (mutations or pathogenic variants) in the TREX1 gene. Genes provide instructions to help make proteins that complete specific functions in the body. It is thought that the protein made from TREX1 has a number of functions, including helping to prevent the immune system from attacking the tissues of the body.

Pathogenic variants in TREX1 that cause HERNS are located in a specific region of the gene. When this region of the gene has a change, the protein that the gene creates spreads all throughout the cell instead of being located where it is most important. This is thought to cause the immune system to mistakenly attack the small blood vessels of the eyes, brain, and kidneys, which causes the signs and symptoms of HERNS. However, researchers are still trying to better understand the exact function of the TREX1 gene.

Last updated on 05-01-20

How is hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS) diagnosed?

Hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS) may be suspected when a person has signs and symptoms of the disease including visual and behavioral changes. A doctor may then take a detailed personal and family history to determine if there are other signs and symptoms of the disease. Other tests may be ordered to examine the health of the kidneys, eyes, and brain. People who have HERNS have specific changes in the small vessels of the brain called multi-layered basement membranes. This finding may increase a doctor’s suspicion that a person has HERNS. Genetic testing of the __TREX1 gene can confirm the diagnosis.

Last updated on 05-01-20

How is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) inherited?

Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is inherited in an autosomal dominant manner. This means that only one copy of the TREX1 gene is changed in people who have HERNS. We inherit one copy of each gene from our mother and the other from our father. When a person who has HERNS has children, for each child there is a:

  • 50% chance to inherit the changed copy of TREX1, meaning he or she will have HERNS
  • 50% chance to inherit the working copy of TREX1 , meaning he or she will not have HERNS

Last updated on 05-01-20

What is hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)?

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.

Last updated on 05-01-20

How can I find others who have loved ones with hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)?

You can view the Organizations section of our Web page on HERNS to see contact information for organizations that support individuals and families affected by HERNS. These resources may be able to help put individuals in touch with others that are affected by this condition.

Last updated on 05-01-20

What is the long-term outlook for people with hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS)?

Unfortunately, most people with hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS) pass away about 5-10 years after they first experience symptoms of the disease. The disease is progressive, meaning that the signs and symptoms continue to worsen. Eventually, the lesions in the brain cause changes in mental and physical abilities of people who have HERNS. These progressive mental and physical changes, as well as the kidney problems that are caused by the disease, are the most life-threatening complications of HERNS.

Last updated on 05-01-20

How might hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) be treated?

At this time, there is no effective treatment for hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Treatment of HERNS is largely palliative, which means that it is aimed at decreasing pain by providing treatments that may help relieve some of the symptoms, along with providing comfort and support. In some cases, aspirin may be recommended. Laser treatment of the eyes may be beneficial to some people. Other treatment options may be recommended depending on the signs and symptoms of each person.

Last updated on 05-01-20

Selected Full-Text Journal Articles

HERNS - Online book

Jen JC, Baloh RW. Herediatry endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). In: Bogousslavsky J, Caplan L., eds Uncommon Causes of Stroke. 2nd ed, Cambridge University Press. 2001;319-323.

Last updated on 04-27-20

Name: Retina International Ausstellungsstr. 36 8005 Zurich
Switzerland
Phone: + 41 (0)44 444 10 77 Email: info@retina-international.org Url: http://www.retina-international.org
Name: Energy 4 a Cure Foundation 5000 Eldorado Parkway, Suite 150, #403
Firsco, TX, 75033,
Phone: 281-825-2854 Email: info@RVCLresearch.org Url: http://www.rvclresearch.org/index.php

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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