Topic: Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
Question: What are the symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke ?
Answer: What are the signs and symptoms of Hereditary endotheliopathy, 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 30s or 40s. 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. 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. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the retinal vasculature 90% Visual impairment 90% Abnormality of movement 50% Behavioral abnormality 50% Cerebral ischemia 50% Developmental regression 50% Hematuria 50% Hemiplegia/hemiparesis 50% Migraine 50% Nephropathy 50% Neurological speech impairment 50% Proteinuria 50% Retinopathy 50% Seizures 50% Cataract 7.5% Glaucoma 7.5% Incoordination 7.5% Micronodular cirrhosis 5% Abnormality of the musculature of the lower limbs - Abnormality of the periventricular white matter - Adult onset - Apraxia - Autosomal dominant inheritance - Central nervous system degeneration - Dementia - Dysarthria - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Hemiparesis - Limb pain - Lower limb hyperreflexia - Macular edema - Pigmentary retinal degeneration - Progressive - Progressive forgetfulness - Progressive visual loss - Punctate vasculitis skin lesions - Retinal exudate - Retinal hemorrhage - Stroke - Telangiectasia - Vasculitis in the skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)