Estimating the Frequency and Neuro-Hormonal Characteristics of Acute Hepatic Porphyria in Postural Tachycardia Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 70
- 试验地点
- 1
- 主要终点
- AHP Case ascertainment in POTS patients
研究概览
简要总结
Postural Tachycardia Syndrome (POTS) is the most common autonomic disorder and is estimated to affect 3,000,000 individuals in the United States, with 80-85% of patients being women. The condition is characterized by a rapid increase in heart rate (HR) that occurs on standing, and chronic symptoms of cerebral hypoperfusion leading to lightheadedness, dizziness, and blurred vision.
The acute hepatic porphyrias(AHP)are among the diseases that present with autonomic cardiovascular(tachycardia)and neurovisceral symptoms (abdominal pain) among others; they present with acute exacerbations Given that there is available treatment for AHP that change the natural progression of the disease, study focuses to investigate the occurrence of AHP in POTS and determine the clinical and neuro-hormonal characteristic of the POTS subgroup that will likely benefit from AHP screening.
This study has one visit that involves, answering some questionnaires, coming to the lab for blood work, genetic testing, and some autonomic function tests. About 50 people will take part in this study.
详细描述
Postural Tachycardia Syndrome (POTS) affects ~3 million young women in the United States.(1)These patients have a low quality of life because of chronic presyncopal symptoms, and orthostatic tachycardia that occur while standing. POTS can be the initial presentation of an underlying illness. A substantial group of patients with POTS reported that their symptoms started after an acute illness, surgical intervention, substantial weight loss or after ingesting certain medications. These are the same triggers for acute AHP attacks.
Furthermore, the demographic characteristics of AHP overlaps with that of POTS. AHP also affects primarily young women, in their reproductive age. POTS can have a diverse presentation, some patients present with axonal autonomic neuropathy, and severe gastrointestinal symptoms which are co-morbid conditions also present in chronic AHP.
It is within this context that investigators propose to assess the occurrence of AHP in the general POTS population, identify its clinical presentation and neuro-hormonal characteristics.
Rationale and Endpoints:
- To evaluate occurrence of AHPs in POTS patients with autonomic and neurovisceral symptoms referred to a National Referral Center for the treatment of Autonomic Disorder.
- To determine the autonomic and neuro-hormonal characteristics of AHP-POTS patients compared with POTS patients
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 65 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age 18 - 65 years
- •Individuals having an established diagnosis of POTS defined as the presence of presyncopal symptoms for more than 6 months and orthostatic tachycardia (>30 bpm increase in HR within 10 min after assuming upright position)
- •The present of one of the following criteria:
- •3.1 Family history of acute hepatic porphyria 3.2 Unexplained recurrent (more than one), prolonged (>24 hours) episode of severe, diffuse (poorly localized) abdominal pain AND at least TWO of the following:
- •Red to brownish urine.
- •Blistering skin lesions on sun-exposed areas.
- •Peripheral nervous system manifestations occurring around the time of abdominal pain (i.e., motor neuropathy (paresis), sensory neuropathy (numbness, tingling, limb pain).
- •Central nervous system manifestations occurring around the time of abdominal pain (i.e. confusion, anxiety, seizures, hallucinations).
- •Autonomic nervous system manifestations occurring around the time of abdominal pain (i.e. hyponatremia(Na<lower limit of normal)), tachycardia, hypertension, nausea and vomiting, constipation).
排除标准
- •Pregnant or breastfeeding women
- •type 2 diabetes mellitus
- •History of alcohol or drug abuse
- •Inability to provide informed consent or comply with protocol
结局指标
主要结局
AHP Case ascertainment in POTS patients
时间窗: During the intervention
Evaluating the Prevalence of Acute Hepatic Porphyria in Postural Tachycardia Syndrome
次要结局
未报告次要终点
研究者
Cyndya Shibao, MD
Associate Professor
Vanderbilt University Medical Center