Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

Title

Other Names:

HANAC syndrome

Categories:

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Nervous System Diseases

Summary Summary

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is a genetic condition that causes blood vessels to become fragile. Signs and symptoms include muscle cramps, Raynaud phenomenon, kidney cysts, blood in the urine (typically not visible to the eye), leukoencephalopathy (a change in brain tissue that can be seen on MRI), arteries in the back of the eye that twist and turn abnormally, headaches, and supraventricular arrhythmia. These signs and symptoms do not often cause serious complications, however temporary vision loss due to bleeding in the back of the eye, minor ischemic stroke, and bleeding complications with blood thinner use has been described. While muscle cramps may begin in childhood, many of the other symptoms do not appear until later in life. HANAC syndrome is caused by mutations in the COL4A1 gene. It is passed through families in a autosomal dominant fashion.

Last updated: 5/14/2014

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Stroke	5%
Autosomal dominant inheritance	-
Cerebral aneurysm	-
Hematuria	-
Leukoencephalopathy	-
Muscle cramps	-
Nephropathy	-
Renal cyst	-
Renal insufficiency	-
Retinal arteriolar tortuosity	-
Retinal hemorrhage	-
Supraventricular arrhythmia	-

Last updated: 10/1/2016

Treatment Treatment

In order to know how HANAC syndrome is affecting you, your doctor may recommend that you undergo a series of imaging tests of the brain and kidney, an eye exam, and blood tests (e.g., serum CK concentration).^[1] While there is not a targeted treatment for HANAC syndrome, treatments are available to manage its signs and symptoms, such as drugs to reduce high blood pressure, manage headaches, and treat arrhythmia. People with HANAC syndrome may be regularly monitored (e.g., once a year) for signs and symptoms.^[1] In order to reduce the risk for health complications, your doctor may advise you to avoid smoking, activities that can cause head trauma, and blood thinners (anticoagulants).^[1]

Last updated: 5/14/2014

Management Guidelines

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Do you have updated information on this condition? Let us know.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

NCATS Co-Sponsored Conferences

2015 Collagen Gordon Research Conference and Gordon Research Seminar Sunday, July 12, 2015 - Friday, July 17, 2015
Location: New London, NH
Description: The 2015 Collagen GRC program will include invited and platform presentations as well as posters on (a) new data and concepts about the genetics, chemistry, biology and pathology of collagens; (b) advances in closely related areas of research, such as cell-matrix interactions, developmental biology and diseases of connective tissues, and bioengineering, that are relevant to the collagen field; (c) new and emerging technologies and approaches that may be applied to the collagen field.

Contact: Hung Tseng, Ph.D., (301) 496-0810, tsengh@mail.nih.gov

Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research

GARD Answers GARD Answers

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Should I worry about having HANAC syndrome? I purchased a genetic test and this condition came up. See answer

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References References

Plaisier E, Ronco P. COL4A1-Related Disorders. GeneReviews. March 8, 2011; http://www.ncbi.nlm.nih.gov/books/NBK7046/. Accessed 5/14/2014.
COL4A1-related brain small-vessel disease. Genetics Home Reference. September 2011; http://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease. Accessed 5/14/2014.

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