Medical mystery: A nose bleed signaled an uncommon disorder
The doctor noticed something unusual about the children’s appearance. Both had light blond hair, pale skin, and blue eyes, while their mother had dark brown hair and darker skin.
It was a busy shift in our emergency room and I was taking care of a few children.
As I walked back to the main staging area, I listened to the various conversations in each exam room, instinctively guessing the reasons why each family brought their child to the ER.
In one room, I listened to the unmistakable hum of a nebulizer machine.
Asthmatic, I thought to myself.
In another room, I heard the unmistakable “seal-like” cough of a child with croup, an infection of the upper airway.
In Room No. 8, a parent sat on the gurney with her two preschool-aged children, speaking to them lovingly in Spanish.
On the board in the main area of the ER were the first names of the children in the room I just passed as well as the first year pediatric resident taking care of them. I found the resident and asked her what the children were here for.
“Epistaxis,” she said using the medical term for nosebleed. She explained they had arrived from Puerto Rico not too long ago, and she was waiting for an interpreter to get more medical history from their mother.
I peeked back into the room and noticed something unusual about the children’s appearance. Both had light blond hair, pale skin, and blue eyes, while their mother had dark brown hair and darker skin.
I advised the resident to ask about a family history of bleeding issues. She looked at me quizzically.
I was thinking about a syndrome that most experienced pediatricians at St. Christopher’s Hospital for Children, which serves a large Hispanic population, have become familiar with.
Hermansky-Pudlak Syndrome (HPS) affects only one in 500,000 people worldwide, but in northwest Puerto Rico, 1 in 21 individuals are carriers of the gene HPS 1, so the condition affects one out of every 1,800 persons in northwest Puerto Rico.
As I suspected, the two children in Room No. 8 had the disorder.
HPS is an autosomal recessive disorder, meaning both parents need to be carriers of this gene for their child to get it. HPS causes oculocutaneous albinism (light hair and eyes, and eye problems), platelet pool problems (trouble with clotting that can mean nose bleeds) and the most serious complication, deposits of a wax-like substance called ceroid, that can, and usually does, cause major lung and kidney issues as patients get to middle age.
Patients with HPS need to be followed closely by several specialists including eye doctors, hematologists and pulmonologists. There is no cure. If the lung disease gets too serious, some patients need a lung transplant.
HPS is diagnosed by the hypopigmentation of the skin and hair, characteristic eye findings, and characteristic appearance of the blood platelets under an electron microscope. Genetic testing is also available to confirm the diagnosis.
The resident went back into the room with the translator on the phone and soon came out with a look that we all had when we just started out — her face said, “I still have a lot more to learn.”
“Bienvenido a St. Chris,” I said, knowing she will never forget these light-haired children and the wonderful population that she serves.
Daniel R. Taylor is an associate professor at Drexel University College of Medicine and director of community pediatrics and child advocacy at St. Christopher’s Hospital for Children.