Secondary causes of thrombocytopenia as immunologic thrombopenia purpura, or ITP, are far more common than inherited causes, which even as a group, are rare. Nevertheless, diagnosis is important and progress made in uncovering the molecular basis of these disorders has contributed greatly to our knowledge of these diseases. Inherited thrombocytopenias are a heterogeneous group of disorders. Dif...

Bleeding syndromes that arise through an inherited defect of platelet production constitute a heterogeneous group of rare platelet disorders of growing importance. Some, including the Bernard-Soulier syndrome (BSS) and Wiskott-Aldrich syndrome (WAS), associate a low circulating platelet count with a deficiency in a known functional protein (Table 1). In others, platelet dysfunction has not been...

From the Department of Genetics,* Harvard Medical School, Boston; the Cardiovascular Division,y Brigham and Women’s Hospital and Harvard Medical School, Boston; the Laboratory for Molecular Medicine,z Partners HealthCare Center for Personalized Genetic Medicine, Boston; and the Department of Pathology,x Massachusetts General Hospital, Brigham and Women’s Hospital and Harvard Medical School, Bos...

Copyright © 2011 Massachusetts Medical Society. I nherited cardiomyopathies are a major cause of heart disease in all age groups, often with an onset in adolescence or early adult life. Not only the patients but also their families can be severely burdened by these illnesses. More than 20 years ago, the first “disease gene” for hypertrophic cardiomyopathy was identified.1,2 This finding led to ...

The large degree of clinical heterogeneity within each of the major categories of inherited neuropathies can lead to difficulties in making correct diagnoses based on clinical findings alone. The observation of key clinical findings coupled with electrophysiological findings and understanding of inheritance patterns, should allow the clinician to make judicious use of genetic testing to confirm...

The amyloidoses are a group of deposition diseases in which the tissue deposits are composed of protein fibrils. These fibrils are the result of aggregation of specific precursor proteins into ordered structures which are resistant to proteolytic digestion and solubilisation. The ordered structure of the fibrils causes the deposits to be birefringent and, when histological sections are stained ...