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Genetic and Rare Diseases Information Center (GARD)

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Hereditary endotheliopathy, retinopathy, nephropathy, and stroke


Other Names for this Disease

  • HERNS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Please provide me with information and supportive resources for HERNS. I have loved ones with this condition and need help finding information and support.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is a rare genetic condition that affects the vascular endothelium (the inner lining of the arteries and blood vessels). Specifically, the small blood vessels of the brain (microangiopathy); retina (vascular retinopathy); and kidneys are affected. Signs and symptoms may include progressive adult onset vision loss, psychiatric disturbances, stroke-like episodes, neurologic decline, and kidney disease. HERNS is inherited in an autosomal dominant manner.[1][2][3][4]

The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. Genetic studies have shown that these 3 conditions are likely variations of RVCL and are caused by mutations in the TREX1 gene.[5]
Last updated: 10/9/2013

What are the signs and symptoms of hereditary endotheliopathy with retinopathy, nephropathy, and stroke?

Very few cases of hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) have been reported. Based upon these reports, it appears that symptoms often begin in the 30’s or 40’s. Early symptoms, which may differ among individuals, may include depression, anxiety, paranoia, decreased central vision, and/or blind spots. Within the next 4 to 10 years affected individuals reportedly experience focal neurologic deficits that may have a sudden stroke-like onset. The stroke-like episodes may last several days. Headache and seizures may also occur. As the condition progresses, symptoms may include speech impairment, partial paralysis, and/or apraxia. Other symptoms of advanced disease include loss of vision as well as physical and mental skills. Kidney failure, hematuria (blood in the urine) and proteinuria has been described in some affected individuals.[1][2][3][4]

Common to all affected individuals is the presence of cerebral microvasculopathic lesions. Some individuals go on to develop mass lesions, predominantly involving the right frontal lobe. These lesions are often mistaken for tumors.[4]
Last updated: 10/9/2013

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 having a mutation in only one copy of the gene responsible for the condition is sufficient to cause signs and symptoms of HERNS. When an individual with HERNS has children, each child has a 50% (1 in 2) chance to inherit the mutated gene.

The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. However, recent genetic studies have shown that these 3 conditions are likely variations of RVCL and are now known to be caused by mutations in the TREX1 gene.[4][5]
Last updated: 10/9/2013

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 and suffering by providing treatments for relief of symptoms along with comfort and support. In some cases, aspirin may be recommended. Laser treatment to prevent retinal hemorrhage may be beneficial to some affected individuals. A continuous maintenance dose of corticosteroids may be prescribed to manage cerebral edema (swelling in the brain).[1][2][3]
Last updated: 10/9/2013

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 1/21/2014

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: 10/9/2013

References
  • Dichgans M, Meschia JF. Cerebrovascular disorders. In: Rimoin DL et al. Principle and Practice of Medical Genetics, 5th ed. Philadelphia, PA: Churchill Livingston Elsevier; 2002;
  • 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;
  • Seifried C, Sitzer M, Jen J, Auburer G. HERNS. A rare, hereditary, multisystem disease with cerebral microangiopathy. Nervenartz. 2005;
  • Cohn AC, Kotschet K, Veitch A, Delatycki MB, McCombe MF. Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome. Clin Experiment Ophthalmol. April 2005; 33(2):181-183.
  • David Kavanagh et al. New roles for the major human 3'–5' exonuclease TREX1 in human disease. Cell Cycle. June 15, 2008; 7(12):1718-1725.
Other Names for this Disease
  • HERNS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.