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Patients Know It: Hughes Syndrome Is Unique
To the Editor: A woman named Hughes was referred to St. Thomas' Lupus Unit for advice regarding the possibility that she had "Hughes syndrome." The 42-year-old woman appeared very loquacious and meticulous. She arrived with a 3 page, typewritten report describing in detail her symptoms and the numerous encounters she had had with various medical professionals since 2001. Her personal diagnostic hypothesis was that she had Hughes (antiphospholipid) syndrome (APS), but her referring rheumatology consultant was less than certain about this potential diagnosis. During the consultation, she brilliantly described, with appropriate medical terminology, sudden hearing loss, Meniere's syndrome, severe headaches, and memory loss, the last 2 symptoms being greatly improved by low-dose aspirin. When asked their opinion, the students attending our clinics stated that evidence for APS was not convincing: "no history of thromboembolic disease," "no history of multiple miscarriages," "cardiolipin antibodies negative." Clearly, in their view, "Hughes syndrome" sounded more like the patient's own name rather than the antiphospholipid (Hughes) syndrome. Confusion remained: did she describe "Mrs. Hughes syndrome," a carefully built pathomimic simulation, or a true Hughes syndrome? Extensive and fixed livedo reticularis of lower limbs (Figure 1) and lupus anticoagulant positive on 2 previous occasions clarified the diagnosis. There was little doubt: Mrs. Hughes had nothing else but the antiphospholipid (Hughes) syndrome.
Hughes syndrome is defined by arterial and/or venous thrombosis and pregnancy morbidity in association with antiphospholipid antibodies 1 . However, many other clinical manifestations, such as headache, cognitive impairment, and affective disorders, may be linked to APS. Livedo reticularis, which was included in the original clinical description of the APS, constitutes a major feature of the disease 2-4 . In the huge experience of St. Thomas' Lupus Unit, these neurological and dermatological signs are considered as "alternative" criteria for APS. They are even more evocative when they regress taking aspirin and are clearly helpful for the diagnosis on an individual patient basis. Thus, Mrs. Hughes was right. There are not 2 Hughes syndromes: the only one is the antiphospholipid one. As we reminded our students: always listen to the patient. ERIC ROSENTHAL, MD, PhD; ROSALIND FOSTER, MRCP; SHIRISH SANGLE, MBBS, MD; DAVID D'CRUZ, MD, FRCP, Lupus Research Unit, The Rayne Institute, St. Thomas' Hospital, London SE1 7EH, UK. Address reprint requests to Dr. D. D'Cruz. E-mail: david.d'cruz@kcl.ac.uk
1. Wilson WA, Gharavi AE, Koike T, et al. International consensus statement on preliminary classification criteria for definite antiphospholipid syndrome: report of an international workshop. Arthritis Rheum 1999;42:1307-11. 2. Hughes G. Connective tissue diseases and the skin. The 1983 Prosser-White Oration. Clin Exp Dermatol 1984;9:535–44. 3. Hughes GRV. Hughes syndrome — the syndrome behind the name (otherwise known as antiphospholipid syndrome). Isr Med Assoc J 1999;1:100–3. 4. Frances C, Niang S, Laffitte E, Pelletier F, Costedoat N, Piette JC. Dermatologic manifestations of the antiphospholipid syndrome: two hundred consecutive cases. Arthritis Rheum 2005;52:1785-93. |
