"Don't You Remember What Disease Causes Bleeding in Albino Puerto Ricans?"

Patient Presentation
A 10-month-old male came to the emergency room of a children’s hospital with epistaxis.
His parents stated that he had been having intermittent epistaxis for several days that was associated with rhinorrhea which they usually controlled with pressure.
They had been trying for about 2 hours to control a new nosebleed with pressure but it was not responding.
The past medical history revealed that he “has a bleeding problem” that had been evaluated in Miami, Florida but the parents didn’t know what type it was.
The family history revealed some menorrhagia in a female aunt but no other bleeding or bruising problems.
The social history showed that the family was from Puerto Rico and was visiting relatives.
The review of systems was negative.
The pertinent physical exam showed a 10 month old with white blond hair, light blue eyes, and cutaneous albinism.
This was in contrast to his parents who had dark brown hair and eyes, and had medium coffee-and-cream color to their skin. His vital signs were normal as were his growth parameters.
He had a small amount of fresh mixed blood/rhinorrhea coming from his left nare. A small clot could be seen high on the nasal septum.
The right nare also had some areas with small clots on the nasal septum and lateral aspect of the nare.
He had some bruising of the outer surface of his lower arms and shins.
The resident and staff physician seeing the patient did not know what the bleeding problem was but both agreed that it appeared that he may need cautery high up on the nasal septum.
Because the patient was clinically stable the resident called the hematologist on-call before talking to the otolaryngologists.
After the resident described the patient, the hematologist was noticeably excited and said, “Don’t you know what bleeding problem is common in albinos from Puerto Rico?”
The resident admitted that she did not know. The hematologist said, “It’s Hermansky-Pudlak syndrome. I’ve just been reviewing it so I can take my board re-certification test next month.”
The diagnosis of Hermansky-Pudlak syndrome was confirmed with a telephone call to the hematologist in Miami, Florida, and the parents agreed to have his medical records sent to this children’s hospital as they often visited relatives in the city and he may need additional future care.
The laboratory evaluation showed a complete blood count with a hemoglobin of 11.4 mg/dL, and a platelet count of 120 x 1000/mm2 with a normal differential.
The otolaryngologist used Gelfoam® packing which was absorbable to prevent trauma with removal in the left nare and the patient was to follow-up in 3 days with the otolaryngologist.

Epistaxis is a common problem for patients of all ages.
Two of the most common causes are mucosal irritation and local trauma from blowing, rubbing or picking the nose. About 10% of patients have no identifiable cause.

For an overview of epistaxis including a differential diagnosis, click on What Causes Nosebleeds?

Learning Point
Platelets have a bilipid membrane with glycoproteins supporting its structure. Internally there are various granules.
Dense granules have ADP, ATP and serotonin. Alpha granules contain coagulation factors and other biologically active proteins.
Platelet abnormalities causing bleeding are often due to low total numbers of platelets (i.e. thrombocytopenia).
Intrinsic platelet function abnormalities are not as common but do occur.

Congenital platelet abnormalities include:

  • Platelet granule problems
    • Hermansky-Pudlak syndrome
      • Autosomal recessive
      • Malfunction of storage pool of cytoplasmic dense granules
      • Has oculocutaneous albinism
      • Ceroid deposition in bone marrow, intestinal macrophages and lungs causing pulmonary fibrosis
      • More common in Puerto Ricans
    • Chédiak-Higashi Disease
      • Large, dysfunctional dense granules
      • Immunodeficiency and partial albinism
    • Gray Platelet Syndrome
      • Autosomal dominant probably
      • Alpha-granules are absent
      • May have myelofibrosis
    • Cyclooxygenase deficiency
      • Unknown genetics
      • Defective activation of cyclooxygenase enzyme
  • Platelet membrane problems
    • Benard-Soulier syndrome
      • Autosomal recessive
      • Deficiency of platelet glycoprotein Ib which is the receptor for von Willebrand factor
      • Mild thrombocytopenia, giant platelets
      • Poor platelet aggregation with a prolonged bleeding time, no agglutination with ristocetin
    • Glanzmann thrombasthenia
      • Autosomal recessive
      • Deficiency of platelet glycoprotein IIb-IIIa in the platelet membrane
      • Poor platelet aggregation
    • Wiskott-Aldrich syndrome
      • X-linked recessive
      • Decreased platelet survival and platelet adhesion deficiency
      • Small platelets, severe eczema and immunodeficiency

Questions for Further Discussion
1. What is the differential diagnosis of thrombocytopenia?
2. What is the differential diagnosis of thrombocytosis?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Bleeding Disorders and Blood and Blood Disorders.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

Nathan DG, Orkin SH. Hematology of Infancy and Childhood. 5th Edit. 1998. 1607-1611.

Rudolph CD, et.al. Rudolph’s Pediatrics. 21st edit. McGraw-Hill, New York, NY. 2003:1558-1559.

Online Mendelian Inheritance in Man.
Available from the Internet at http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim (rev. 2008, cited 12/8/08).

ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.

  • Interpersonal and Communication Skills
    19. The health professional works effectively with others as a member or leader of a health care team or other professional group.

  • Systems Based Practice
    25. Quality patient care and assisting patients in dealing with system complexities is advocated.

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital

    January 26, 2009