Genetic primary orthostatic hypotension

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2Specialists8Treatment centers

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Overview

Genetic primary orthostatic hypotension is a rare inherited condition where your blood pressure drops significantly when you stand up from sitting or lying down. This happens because of problems in the nerves that normally help your body adjust blood pressure when you change positions. Under normal circumstances, when you stand up, your nervous system quickly tightens blood vessels and increases heart rate to keep blood flowing to your brain. In people with this genetic condition, that automatic response does not work properly due to inherited defects in the pathways that produce or use certain chemical messengers (neurotransmitters) like norepinephrine and dopamine. The main symptoms include dizziness, lightheadedness, fainting or near-fainting when standing, blurred vision, and fatigue. Some people also experience weakness, difficulty exercising, and problems with sweating or other automatic body functions. Symptoms can range from mild to severely disabling, depending on the specific genetic cause. Treatment is mainly supportive and aimed at managing symptoms. This may include increasing salt and fluid intake, wearing compression garments, sleeping with the head of the bed elevated, and medications such as fludrocortisone or midodrine to help raise blood pressure. In some specific genetic subtypes, replacement of the missing neurotransmitter precursor (such as L-DOPS, also known as droxidopa) may be effective. There is currently no cure, but with proper management many patients can significantly improve their quality of life.

Key symptoms:

Dizziness or lightheadedness when standing upFainting or near-fainting upon standingBlurred or dimming vision when uprightFatigue and low energyWeakness, especially when standing for long periodsDifficulty exercising or being physically activeRapid heartbeat when standingNausea upon standingProblems with sweating (too much or too little)Neck and shoulder pain or discomfort when standing (coat-hanger pain)Difficulty concentrating when uprightPale or clammy skin when standingLow blood pressure readings

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Genetic primary orthostatic hypotension.

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No actively recruiting trials found for Genetic primary orthostatic hypotension at this time.

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Specialists

2 foundView all specialists →
SM
Stephen G Kaler, MD, MPH
COLUMBUS, OH
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Genetic primary orthostatic hypotension.

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Community

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Latest news about Genetic primary orthostatic hypotension

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Caregiver Resources

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Mental Health Support

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Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What specific genetic mutation is causing my orthostatic hypotension, and does it affect treatment options?,Which medications are most likely to help my specific type of genetic orthostatic hypotension?,Are there activities or situations I should avoid to prevent fainting episodes?,How often should I have follow-up testing of my blood pressure and autonomic function?,Should my family members be tested for this genetic condition?,Are there any clinical trials or new treatments being studied for my condition?,What should I do in an emergency if I faint and cannot be revived quickly?

Common questions about Genetic primary orthostatic hypotension

What is Genetic primary orthostatic hypotension?

Genetic primary orthostatic hypotension is a rare inherited condition where your blood pressure drops significantly when you stand up from sitting or lying down. This happens because of problems in the nerves that normally help your body adjust blood pressure when you change positions. Under normal circumstances, when you stand up, your nervous system quickly tightens blood vessels and increases heart rate to keep blood flowing to your brain. In people with this genetic condition, that automatic response does not work properly due to inherited defects in the pathways that produce or use certai

Which specialists treat Genetic primary orthostatic hypotension?

2 specialists and care centers treating Genetic primary orthostatic hypotension are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.