Clinical Progression Of Ws

One aspect of WS that is not well conveyed by Table 80.1 is the progressive nature of the WS clinical phenotype: a complex constellation of changes that may develop over two or three decades, after having been first noticed beginning in the second decade of life. A sense of the progressive nature of the WS clinical phenotype and visible changes can be gleaned from pairs of patient photos taken in early adulthood, and later in mid-life when the clinical phenotype of WS is often well-developed (see Figure 80.2).

These two patients and many other WS patients appear remarkably normal until the time of puberty, after which the most prominent of the features outlined in Table 80.1 become apparent over the subsequent 10 to 20 years. A simple animation from one of these patient

Figure 80.2 Clinical progression and features of Werner syndrome. A, B. Photographs of a Werner syndrome patient reported by Epstein et al. (1966) as Case 1, at ages 15 (A) and 48 (B). C, D. Photographs of a second patient at ages ~13 (C) and 56 (D). Note in both instances the rounded face, sharp features, graying, thinning, and loss of scalp and eyebrow hair and, in D, the thin, atrophic forearms and elbow ulceration. Panels A and B are used with kind permission of Drs. George Martin and Nancy Hanson of the International Registry of Werner Syndrome, and Lippincott Williams & Wilkins (B). The patient photographs in panels C and D were previously published in Martin (2005), and are used here courtesy of the patient's spouse with informed consent of the patient and of Drs. George Martin and Nancy Hanson, and Elsevier Press.

Figure 80.2 Clinical progression and features of Werner syndrome. A, B. Photographs of a Werner syndrome patient reported by Epstein et al. (1966) as Case 1, at ages 15 (A) and 48 (B). C, D. Photographs of a second patient at ages ~13 (C) and 56 (D). Note in both instances the rounded face, sharp features, graying, thinning, and loss of scalp and eyebrow hair and, in D, the thin, atrophic forearms and elbow ulceration. Panels A and B are used with kind permission of Drs. George Martin and Nancy Hanson of the International Registry of Werner Syndrome, and Lippincott Williams & Wilkins (B). The patient photographs in panels C and D were previously published in Martin (2005), and are used here courtesy of the patient's spouse with informed consent of the patient and of Drs. George Martin and Nancy Hanson, and Elsevier Press.

photo pairs can be viewed on the Web to get a sense of clinical progression of the changes in external appearance (see Recommended Resources).

The progression of clinical changes in WS can usefully be thought of as having three distinct phases. The first of these comprises the absence of an adolescent growth spurt followed over the subsequent decade by the appearance of graying and loss of hair, the development of skin changes, and of cataracts. A second wave of changes, often first seen late in the third or in the fourth decades of life, include skin ulceration, hypogonadism, and reproductive failure, together with a progressive worsening of the primary changes. A third phase may follow with the development of clinically important disease processes such as atherosclerosis, osteoporosis, diabetes mellitus, and cancer. These diseases occur proportionately earlier in WS patients than in otherwise normal individuals of comparable age, and are an important cause of premature morbidity and mortality. The three leading causes of death in WS patients are atherosclerotic cardiovascular disease, neoplasia, and, in a minority of cases, infection. The mean age at death in a Japanese clinical series was ~47 years, though well-documented patients have lived into the seventh decade of life (Goto, 1997).

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