Ehlers-Danlos syndrome

doi:10.1136/bmj.39237.484468.80

BMJ 2007;335:448-450 (1 September), doi:10.1136/bmj.39237.484468.80

Practice

A patient's journey

Ehlers-Danlos syndrome

Frances Gawthrop, trustee, Ehlers-Danlos Syndrome Support Group¹, Rae Mould, patient's mother², Amanda Sperritt, patient³, Fiona Neale, patient⁴

¹ Ash, Surrey , ² York , ³ Chippenham, ⁴ Loughborough

Correspondence to: F Gawthrop director@ehlers-danlos.org

These three case histories illustrate the many problems facingpatients with Ehlers-Danlos syndrome in its various forms

The first 150 words of the full text of this article appear below.

Patient 1: Jacqueline Mould

At birth my daughter, Jacqueline, had very visible veins onher head and body. She bruised badly when she fell. The doctorssaid it was nothing—just thin skin. Then, when she was12 years old she developed an unusual localised rash on herknees. A dermatologist said she had perforating elastoma. Shewas an "interesting case," but he did not know the cause. Atage 23 Jacqueline developed pain in her legs. The doctor saidit was just varicose veins—there was nothing to be doneexcept to avoid standing and to wear support stockings. Thepain got worse and Jacqueline went for a hospital consultation.At the clinic blood was taken and she bled for 13 minutes. Shewas sent to a joint consultation with a haematologist and adermatologist, who said she should see a specialist interestedin the genetics of Ehlers-Danlos syndrome. Still we had no ideaof . . . [Full text of this article]

Patient 2: Amanda Sperritt

Patient 3: Fiona Neale

Additional information for patients
Doctors' perspective

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