It was in August 2007 that Anthony and Francine Pugliese began taking their daughter, Nina, to an assortment of doctors for an assortment of symptoms. Then 12, she was nauseated, vomiting, lightheaded and extremely fatigued. Her heart rate was increased.
As time went on and no diagnosis was forthcoming, the Jefferson Hills girl's symptoms got worse.
"She's losing weight; she can't function in school," Mrs. Pugliese said. "She loves basketball; she was trying to play basketball, but she would get violently sick after a game."
Victoria Piekut, 15, of North Huntingdon, started struggling with severe body pain, nausea, lightheadedness, body tremors and severe headaches she described as migraines back in the sixth grade, said her mother, Chris. Victoria couldn't stand for more than a short period. Her symptoms worsened over the next couple of years as her parents sought medical answers.
Between her junior and senior years at Penn Hills High School, Julee Catania, now 19 and a sophomore at Washington & Jefferson College, walked onto a softball field for a game and started having double vision. "I got dizzy and real nauseous," she said.
The symptoms continued, and Julee also went to numerous doctors and made several trips to emergency rooms without learning why she was ill.
When he was in fifth grade, now 18-year-old Micah Mason of Harrison began having headaches and dizziness; throwing up was a regular part of his morning routine. A search for a diagnosis was unsuccessful. He began to consider his symptoms a regular part of his life.
During the 2010-11 basketball season, the Highlands High School shooting star started losing weight. By Feb. 28, when he went to the emergency room with an eye infection that left him temporarily blind in that eye, he was down about 30 pounds. In early May, he began having hard, erratic heartbeats, and his legs felt as if he were running through cement.
Then, on May 15, he had his scariest episode while driving with his mother, Karen, to a tournament.
"He couldn't breathe. He was holding onto me, holding his chest," Mrs. Mason recalled.
They arrived at the school and went in. "He was white-faced, his eyes sunken. He went to the bathroom, came out and said, 'Let's go. I need to go to a hospital.' "
Two days later, he finally got a diagnosis at Children's Hospital of Pittsburgh of UPMC -- the same one the other three teens eventually got.
They all had POTS, or postural orthostatic tachycardia syndrome. It also is called orthostatic tachycardia, postural tachycardia, postural tachycardia syndrome, orthostatic intolerance and mitral valve prolapse syndrome. Orthostatis simply means standing upright; tachycardia is an abnormally rapid heart rate.
It is a disorder of the autonomic nervous system, which controls involuntary organ functions, and it could affect as few as 200,000 Americans or more than a million, experts say. Those numbers vary, in part, because those experts argue about the causes.
Satish Raj, a cardiac electrophysiologist and preeminent POTS expert who does clinical research at the Autonomic Dysfunction Center at Vanderbilt University, offers the following definition of POTS:
"It is a chronic disorder where patients feel unwell more acutely when upright and feel somewhat better when they're lying down and where the problem is not primarily a drop in their blood pressure when they're upright, but rather an excessive increase in their heart rate."
According to POTS experts, a patient's heart rate increases by at least 30 beats a minute when he or she stands.
When Micah Mason had his episode May 15, his pulse rate went from about 40 -- an excellent rate for a well-conditioned athlete -- to more than 120 in just a few seconds.
Besides the nausea and dizziness, patients complain of what they call "brain fog," something Dr. Raj said may have more to do with concentration or attention than memory; changes in their vision; increased sweating when standing and exercise intolerance.
What causes those symptoms?
"In some patients, it may be due to not getting enough blood flow to the brain while you're standing. You may be OK when you're lying down," said David Robertson, a neurologist and clinical pharmacologist who founded and directs the Autonomic Research Consortium at Vanderbilt.
Why that is the case is not that simple. Dr. Robertson cautions that "what physicians label as POTS is probably dozens of diseases. Each disease may have its own characteristics and its own cause."
In Dallas, Benjamin D. Levine of the Institute for Exercise and Environmental Medicine, Texas Health Presbyterian Hospital, believes that deconditioning is frequently the cause of POTS -- stay in bed ill a few days or more and your heart rate will increase when you finally get up. He is a huge proponent of an exercise conditioning program as treatment.
Victoria Piekut tried the program last year and felt symptom-free for the first couple of weeks. Then, her mother said, she began to dehydrate despite a normal amount of fluids. Eventually she ended up in a hospital on pain medications and intravenous fluids.
"That amount of exercise [an hour a day, five days a week] was too much for her," Mrs. Piekut said. "She couldn't take in enough fluids. That's kind of the problem with POTS: Everybody reacts differently."
Dr. Raj said there are many POTS patients in whom low blood volume, or the amount of blood in their bodies, may be the underlying trigger for the disorder. The reason for that low volume is unclear, he said, and he is doing federally funded research on the question.
And, he said, "there are other patients that we say have neuropathic POTS." That means there is damage to the peripheral sympathetic nerves, which normally would stimulate the blood vessels to tighten and support blood pressure and return blood back to the central vasculature (blood vessels) and the heart.
"Again, it's not fully clear how that relates to the tachycardia," Dr. Raj said, "but the thought is that perhaps the blood vessels in the lower extremities in these patients don't tighten or constrict as well because of the neuropathy." Poor blood flow then results in more blood pooling in the legs and less blood returning to the heart.
The treatments are as varied as the potential causes.
"One of the common strategies is to try to increase blood volume," said pediatric cardiologist Julian Stewart of the New York Medical College, the foremost researcher into the mechanisms of orthostatic intolerance in the young. That's done with fluids and salt or medication, but, he said, "it can be difficult to salt-load because it takes a lot of salt, which can be unpalatable. If you took a patient with POTS and infused saline, they could do pretty much anything temporarily, but it does not fix the problem.
"There are medications to make vessels contract. There are medications that can work on heart rate. Sometimes -- this is very important -- there are medications that work on aspects of the nervous system directly," he said. "Steady progress is being made on the underlying mechanisms of disease."
But Dr. Stewart and the other doctors agreed that exercise has to be included in any treatment strategy.
At the Mayo Clinic Neurological Center in Rochester, Minn., Phillip Low, a professor of neurology, said that in the long term, exercise is more important than medications in treating Mayo's POTS patients, some of whom "will tell you it's important to stay fit because if you lose your level of fitness, you may have more symptoms. Medications have some value for the control of symptoms for a period of time.
"We sometimes use medications, but it's mainly exercise and fluids," he added. "Sometimes we'll give them a beta blocker to slow the heart down a little bit. That's for the short term, but we don't rely on it in the long term."
At Vanderbilt, which only sees adult patients, Dr. Raj said, "we talk to everyone about the importance of exercise based on the [Qi] Fu and [Benjamin D.] Levine data. Everyone pretty much gets advised to increase their blood volume by diet, and that means increasing their salt intake and increasing their fluid volume." He also uses medications, particularly for low blood volume.
Julee Catania and Nina Pugliese, who were diagnosed and are being treated by Hasan Abdallah of the Children's Heart Institute in Reston, Va., take multiple medications. Julee, who has started playing softball again, walks and tries to live in a stress-free environment. Nina is home-schooled and does cardiac training two or three times a week. When she feels well enough, she plays basketball on an AAU team.
Neither is back to where she was pre-POTS.
Victoria Piekut, who was diagnosed about two years ago by a POTS cardiologist in Toledo, Ohio, can't take typical POTS medications, Mrs. Piekut said. "She has, like, allergic reactions to almost everything they try." She takes vitamins, goes to a chiropractor and massage therapist, and takes a weekly dance class and gym class. Getting up is difficult because of nausea, so she usually misses her first couple of morning classes.
"It's still a struggle. She's in the ER or MedExpress every four weeks for IV fluids," her mother said. "She pumps herself full of Gatorade; it's not enough. If she were sedentary, it might be enough."
Micah Mason also had trouble with medical solutions to his POTS. He couldn't take beta blockers -- they would lower his already low pulse too much. Mrs. Mason was advised not to permit him to take medication to raise his blood pressure. He just got sicker when he tried to increase his salt and Gatorade intake.
Then his mother heard about a chiropractor who was doing something called neurologic relief technique, which she described as the chiropractor applying pressure at the base of the skull behind the ears with half-pound dumbbells or his fingers. Robert Corcetti of Monroeville examined Micah and diagnosed meningeal compression of the spine, a trauma-related condition which he believes caused his patient's POTS symptoms.
Micah began going for treatments four days a week. Meanwhile, Mr. Corcetti prescribed natural supplements and two liquid and one regular meal a day; Micah was pretty much restricted to bed rest.
Now the treatments are once every week and a half, and Micah is back playing basketball.
"He doesn't come out of the game," Mrs. Mason said recently. "He scored 49 points Saturday night. It's a miracle. It's an absolute miracle. Am I certain he's healed? Nope."
That's probably wise, because a POTS recovery takes a long time, and patients may never be 100 percent healthy again.
"They get better and better ... not as rapidly as they would like," said Dr. Robertson. "I would say that half the patients need no medications five years after they present. [The other half] may need some."
Pohla Smith: firstname.lastname@example.org or 412-263-1228. First Published January 30, 2012 5:00 AM