Living with Hereditary arginine vasopressin deficiency
A water-balance condition that causes lots of urine and thirst because the body lacks a hormone.
Understanding Hereditary arginine vasopressin deficiency
This leads to extreme thirst. People can quickly become dehydrated if they do not drink enough, which can cause dizziness and tiredness and high blood sodium. Repeated dehydration can cause long-term problems, especially in children. The familial form is caused by gene changes, usually shows in childhood, and worsens over time. It is different from diabetes mellitus.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extreme thirst (polydipsia)
- Passing lots of urine (polyuria)
- Irritability
- Tiredness (lethargy)
- Vomiting and diarrhea
- Slow growth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in AVP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Pituitary Network Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Pituitary Network Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
The familial form is caused by changes in the AVP gene. It can be passed down in autosomal dominant, autosomal recessive, or X-linked ways. An acquired form can result from brain injury.
Also known as: adh deficiency; antidiuretic hormone deficiency; avp deficiency; diabetes insipidus of pituitary gland; diabetes insipidus, neurogenic; diabetes insipidus, primary central
Patient organizations
- Pituitary Network AssociationPituitary deficiencies · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary arginine vasopressin deficiency.
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