Harris platelet syndrome--underdiagnosed and unrecognized.
Article Type: Letter to the editor
Subject: Blood platelets (Research)
Blood platelets (Genetic aspects)
Blood platelets (Diseases)
Steroids (Drugs) (Usage)
Steroids (Drugs) (Health aspects)
Splenectomy (Usage)
Genetic disorders (Research)
Genetic disorders (Diagnosis)
Genetic disorders (Care and treatment)
Blood platelets (Aggregation)
Blood platelets (Usage)
Author: Naina, Harris V.K.
Pub Date: 10/01/2008
Publication: Name: Archives of Pathology & Laboratory Medicine Publisher: College of American Pathologists Audience: Academic; Professional Format: Magazine/Journal Subject: Health Copyright: COPYRIGHT 2008 College of American Pathologists ISSN: 1543-2165
Issue: Date: Oct, 2008 Source Volume: 132 Source Issue: 10
Topic: Event Code: 310 Science & research
Accession Number: 230246822
Full Text: To the Editor.--In the review article on Bernard-Soulier syndrome (BSS), Pham and Wang (1) reported the May-Hegglin anomaly as the most common inherited giant platelet disorder. We disagree with the authors regarding that statement. To date, only 200 families, to our knowledge, have been studied for MYH9-related disorders. Harris platelet syndrome (HPS), previously called asymptomatic constitutional macrothrombocytopenia, is an inherited giant platelet disorder reported in healthy blood donors from the northeastern part of the Indian subcontinent. (2,3) Cases of May-Hegglin have been reported from all around the world, with no particular geographic tendency. However, limited studies done on HPS have shown this entity to be prevalent predominantly in parts of the Indian subcontinent (the northeastern part of India and in Bangladesh, Bhutan, and Nepal). (3) In this population, the incidence of HPS was shown to be higher than 30%. (3) Harris platelet syndrome is an autosomaldominant inherited giant platelet disorder characterized by mild (<150 X [10.sup.3]/[micro]L) to severe (<50 X [10.sup.3]([micro]L) thrombocytopenia, giant platelets, normal platelet aggregation studies, and absent bleeding symptoms. No leukocyte or red blood cell abnormalities are detected. To date, there are no reliable blood tests to confirm this disorder. The differential diagnosis of inherited giant platelet disorder with minimal to absent bleeding symptoms includes heterozygous BSS and MYH9 disorders, gray platelet syndrome, and HPS. Although immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain A serves as a screening test for MYH9 disorders, BSS is diagnosed by platelet-aggregation studies and flow cytometry. (4)

Once these disorders are ruled out, we should consider the diagnosis of HPS, particularly if the patient is from the Indian subcontinent. Like BSS, HPS patients are also treated inappropriately with steroids and splenectomy. It is important to recognize HPS to avoid unnecessary investigation and treatment. Although HPS has been shown to be prevalent among people of a particular region, with the ongoing, global migration trend, it is plausible that this entity is being underreported.

(1.) Pham A, Wang J. Bernard-Soulier syndrome: an inherited platelet disorder. Arch Pathol Lab Med. 2007;131:1834-1836.

(2.) Naina HV, Nair SC, Daniel D, George B, Chandy M. Asymptomatic constitutional macrothrombocytopenia among West Bengal blood donors. Am J Med. 2002;112:742-743.

(3.) Naina HV, Nair SC, Harris S, Woodfield G, Rees MI. Harris syndrome: a geographic perspective. J Thromb Haemost. 2005;1 1:2581-2582.

(4.) Kunishima S, Matsushita T, Kojima T, et al. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest. 2003;83:1 15-122.

The authors have no relevant financial interest in the products or companies described in this article.

Harris V. K. Naina,MD

Samar Harris,MD

Department of Medicine

Mayo Clinic

Rochester, MN 55905

In Reply.--Thank you for your response to our article on Bernard-Soulier syndrome. (1) We appreciate your comments and information regarding a relatively recent discovery of a hereditary giant platelet disorder, Harris platelet syndrome (HPS), with current research showing a predominant geographic localization to several countries in the northeastern region of the Indian subcontinent. (2,3)

Although the May-Hegglin anomaly is described as the most common inherited giant platelet disorder in Western medical literature, we acknowledge that HPS may indeed have a higher incidence. However, the lack of widespread published discussion regarding HPS, the seemingly localized geographic distribution of affected individuals, and the reported lack of patients' clinical symptoms (ie, bleeding symptoms), limits the availability of current published information, the amount of research, and ultimately, the diagnosis of this inherited syndrome.

As the authors state, it is important to understand and recognize HPS, as well as the several other platelet syndromes, to avoid misdiagnosis and inappropriate treatment of affected patients.

(1.) Pham A, Wang J. Bernard-Soulier syndrome: an inherited platelet disorder. Arch Pathol Lab Med. 2007;131:1834-1836.

(2.) Naina HV, Nair SC, Daniel D, George B, Chandy M. Asymptomatic constitutional macrothrombocytopenia among West Bengal blood donors. Am J Med. 2002;112:742-743.

(3.) Naina HV, Nair SC, Harris S, Woodfield G, Rees MI. Harris syndrome: geographic perspective. J Thromb Haemost. 2005;11:2581-2582.

The authors have no relevant financial interest in the products or companies described in this article.

Angie Pham,MD

Jun Wang,MD

Department of Pathology and Laboratory Medicine

Loma Linda university Medical Center

Loma Linda, CA 92354
Gale Copyright: Copyright 2008 Gale, Cengage Learning. All rights reserved.