Primer katastrofik antifosfolipid sendrom: 8 yaşında kız çocuk

Hatice Ezgi Baris; Cisem Aksu Lımon; Cisem Aksu Limon; Irmak Vural; Eda Kepenekli; Eda Kepenekli; Ahmet Koc; Ayca Kıykım; Ayca Kiykim; Deniz Yucelten; Deniz Yucelten; Ozgur Kasapcopur; Ozgur Kasapcopur; Safa Baris; Safa Barıs; Elif Karakoc Aydıner; Elif Karakoc-aydiner; Ahmet Ozen; İsil Barlan; Isil Barlan

doi:10.5472/MMJcr.2901.07

Primer katastrofik antifosfolipid sendrom: 8 yaşında kız çocuk

Year 2016, Volume: 29 Issue: 1, 41 - 44, 04.03.2016

Hatice Ezgi Baris Cisem Aksu Lımon Cisem Aksu Limon Irmak Vural Eda Kepenekli Eda Kepenekli Ahmet Koc Ayca Kıykım Ayca Kiykim Deniz Yucelten Deniz Yucelten Ozgur Kasapcopur Ozgur Kasapcopur Safa Baris Safa Barıs Elif Karakoc Aydıner Elif Karakoc-aydiner Ahmet Ozen İsil Barlan Isil Barlan

https://doi.org/10.5472/MMJcr.2901.07

Abstract

Antifosfolipid antikor sendromu (AFAS) tekrarlayan venöz ve
arteriyel trombozlarla seyreden bir hastalıktır. Hastaların %1’inden
azında görülen hızlı seyirli, çoklu trombozlara bağlı multiorgan
yetmezlik tablosu katastrofik antifosfolipid antikor sendromu
(KAFAS) olarak adlandırılmaktadır. Burada eritematöz cilt
lezyonlarıyla başvuran, takibinde alt ekstremitelerde yaygın purpura
fulminans gelişen 8 yaşında kız çocuk sunulmaktadır. Hastada
cilt tutulumuna ek olarak izlemde proteinüri, mikroanjiyopatik
hemolitik anemiye eşlik eden trombositopeni gelişmesi ve cilt
biyopsilerinde arteryel ve venöz trombozlar gösterilmesi nedeniyle
KAFAS geliştiği düşünüldü. Hastaya yoğun bakım desteği ve
geniş spektrumlu antimikrobiyal tedavilerin yanısıra antikoagulan,
antiagregan, steroid, intravenöz immünoglobulin tedavileri
uygulandı. Bu aşamada hastada lupus antikoagulan, anti beta-2
glikoprotein ve antifosfolipid IgG pozitifliği saptanması üzerine
AFAS tanısı doğrulandı. Ancak etiyolojiye yönelik araştırmalarda
trombotik riski düşük MTHFR-A1298C, MTHFR-C677T, faktör
V H1299R, beta fibrinojen-455 G>A mutasyonlarının heterozigot
pozitifliği dışında romatolojik, enfeksiyöz ve malign nedenler
saptanmadı. Aile öyküsünde; ablada Raynaud fenomeni, halada
benzer cilt lezyonları, babaannede intersitisyel akciğer hastalığı ve
proteinüri olmasının yanında baba ve iki ablada lupus antikoagulan
pozitifliği saptandı. Yaygın cilt nekrozuna yönelik debridman,
greftleme ve lokal mezankimal kök hücre tedavisinin yanısıra
azatioprin tedavileri de uygulanan hastada cilt bulgularında
belirgin düzelme gözlendi.

Keywords

Katastrofik antifosfolipid antikor sendromu, Çocuk, Purpura fulminans

References

1. Chalmers E, Cooper P, Forman K, et al. Purpura fulminans: recognition, diagnosis and management. Arch Dis Child 2011; 96:1066-71. doi: 10.1136/adc.2010.199919
2. Gezer S. Antiphospholipid syndrome. Dis Mon 2003;49:696– 741. doi: 10.1016/j.disamonth.2003.10.001 3. Asherson RA. The catastrophic antiphospholipid syndrome. J Rheumatol 1992;19: 508-12.
4. Asherson RA, Cervera R, Piette JC, et al. Catastrophic antiphospholipid syndrome: Clinical and laboratory features of 50 patients. Medicine (Baltimore) 1998;77:195-207. doi:10.1097/00005792-199805000-00005
5. Cervera R, Piette JC, Font J, et al. Antiphospholipid syndrome: clinical and immunologic manifestations and patterns of disease expression in a cohort of 1000 patients. Arthritis Rheum 2002;46:1019–27. doi: 10.1002/art.10187
6. Gomes FH, Carvalho L, Pinheiro P, et al. A16: Long-term follow-up of 36 Pediatric Antiphospholipid Syndrome Patients: A Retrospective Study. Arthritis Rheum 2014; 66:S26. doi: 10.1002/art.38432
7. Asherson R. New subsets of the antiphospholipid syndrome in 2006: “PRE-APS” (probable APS) and microangiopathic antiphospholipid syndromes (“MAPS”). Autoimmun Rev 2006;6:76–80. doi:10.1016/j.autrev.2006.06.008
8. Asherson R, Cervera R, Shoenfeld Y, et al. Catastrophic antiphospholipid syndrome: international consensus statement on classification criteria and treatment guidelines. Lupus 2003;12:530-4. doi: 10.1191/0961203303lu394oa
9. Erkan D, Espinosa G, Cervera R. Catastrophic antiphospholipid syndrome: updated diagnostic algorithms. Autoimmun Rev 2010;10:74-9. doi:10.1016/j.autrev.2010.08.005
10. DiFrancesco LM, Burkart P, Hoehn JG. A cutaneous manifestation of antiphospholipid antibody syndrome. Ann Plast Surg 2003;51:517-22.
11. Berman H, Rodríguez-Pintó I, Cervera R, et al. Pediatric catastrophic antiphospholipid syndrome: Descriptive analysis of 45 patients from the “CAPS Registry”. Autoimmun Rev 2014;13:157-62. doi:10.1016/j.autrev.2013.10.004
12. Brouwer JL, Bijl M, Veeger NJ, et al. The contribution of inherited and acquired thrombophilic defects, alone or combined with antiphospholipid antibodies, to venous and arterial thromboembolism in patients with systemic lupus erythematosus. Blood 2004;104:143-8. doi: http://dx.doi. org/10.1182/blood-2003-11-4085
13. Galli M, Finazzi G, Duca F, et al. The G1691 --> A mutation of factor V, but not the G20210 --> A mutation of factor II or the C677 --> T mutation of methylenetetrahydrofolate reductase genes, is associated with venous thrombosis in patients with lupus anticoagulants. Br J Haematol 2000;108:865-70. doi: 10.1046/j.1365-2141.2000.01964.x
14. Avcin T, Cimaz R, Rozman B. Ped-APS Registry Collaborative Group. The Ped-APS Registry: the antiphospholipid syndrome in childhood. Lupus 2009;18:894- 9. doi: 10.1177/0961203309106917
15. Cervera R. CAPS Registry. Lupus 2012;21(7):755-7. doi: 10.1177/0961203312436866.
16. Cervera R, Espinosa G. Update on the catastrophic antiphospholipid syndrome and the “CAPS Registry”. Semin Thromb Hemost 2012;38:333-8. doi: 10.1055/s-0032- 1304718

Year 2016, Volume: 29 Issue: 1, 41 - 44, 04.03.2016

Hatice Ezgi Baris Cisem Aksu Lımon Cisem Aksu Limon Irmak Vural Eda Kepenekli Eda Kepenekli Ahmet Koc Ayca Kıykım Ayca Kiykim Deniz Yucelten Deniz Yucelten Ozgur Kasapcopur Ozgur Kasapcopur Safa Baris Safa Barıs Elif Karakoc Aydıner Elif Karakoc-aydiner Ahmet Ozen İsil Barlan Isil Barlan

https://doi.org/10.5472/MMJcr.2901.07

Abstract

References

1. Chalmers E, Cooper P, Forman K, et al. Purpura fulminans: recognition, diagnosis and management. Arch Dis Child 2011; 96:1066-71. doi: 10.1136/adc.2010.199919
2. Gezer S. Antiphospholipid syndrome. Dis Mon 2003;49:696– 741. doi: 10.1016/j.disamonth.2003.10.001 3. Asherson RA. The catastrophic antiphospholipid syndrome. J Rheumatol 1992;19: 508-12.
4. Asherson RA, Cervera R, Piette JC, et al. Catastrophic antiphospholipid syndrome: Clinical and laboratory features of 50 patients. Medicine (Baltimore) 1998;77:195-207. doi:10.1097/00005792-199805000-00005
5. Cervera R, Piette JC, Font J, et al. Antiphospholipid syndrome: clinical and immunologic manifestations and patterns of disease expression in a cohort of 1000 patients. Arthritis Rheum 2002;46:1019–27. doi: 10.1002/art.10187
6. Gomes FH, Carvalho L, Pinheiro P, et al. A16: Long-term follow-up of 36 Pediatric Antiphospholipid Syndrome Patients: A Retrospective Study. Arthritis Rheum 2014; 66:S26. doi: 10.1002/art.38432
7. Asherson R. New subsets of the antiphospholipid syndrome in 2006: “PRE-APS” (probable APS) and microangiopathic antiphospholipid syndromes (“MAPS”). Autoimmun Rev 2006;6:76–80. doi:10.1016/j.autrev.2006.06.008
8. Asherson R, Cervera R, Shoenfeld Y, et al. Catastrophic antiphospholipid syndrome: international consensus statement on classification criteria and treatment guidelines. Lupus 2003;12:530-4. doi: 10.1191/0961203303lu394oa
9. Erkan D, Espinosa G, Cervera R. Catastrophic antiphospholipid syndrome: updated diagnostic algorithms. Autoimmun Rev 2010;10:74-9. doi:10.1016/j.autrev.2010.08.005
10. DiFrancesco LM, Burkart P, Hoehn JG. A cutaneous manifestation of antiphospholipid antibody syndrome. Ann Plast Surg 2003;51:517-22.
11. Berman H, Rodríguez-Pintó I, Cervera R, et al. Pediatric catastrophic antiphospholipid syndrome: Descriptive analysis of 45 patients from the “CAPS Registry”. Autoimmun Rev 2014;13:157-62. doi:10.1016/j.autrev.2013.10.004
12. Brouwer JL, Bijl M, Veeger NJ, et al. The contribution of inherited and acquired thrombophilic defects, alone or combined with antiphospholipid antibodies, to venous and arterial thromboembolism in patients with systemic lupus erythematosus. Blood 2004;104:143-8. doi: http://dx.doi. org/10.1182/blood-2003-11-4085
13. Galli M, Finazzi G, Duca F, et al. The G1691 --> A mutation of factor V, but not the G20210 --> A mutation of factor II or the C677 --> T mutation of methylenetetrahydrofolate reductase genes, is associated with venous thrombosis in patients with lupus anticoagulants. Br J Haematol 2000;108:865-70. doi: 10.1046/j.1365-2141.2000.01964.x
14. Avcin T, Cimaz R, Rozman B. Ped-APS Registry Collaborative Group. The Ped-APS Registry: the antiphospholipid syndrome in childhood. Lupus 2009;18:894- 9. doi: 10.1177/0961203309106917
15. Cervera R. CAPS Registry. Lupus 2012;21(7):755-7. doi: 10.1177/0961203312436866.
16. Cervera R, Espinosa G. Update on the catastrophic antiphospholipid syndrome and the “CAPS Registry”. Semin Thromb Hemost 2012;38:333-8. doi: 10.1055/s-0032- 1304718

There are 15 citations in total.

Details

Primary Language	English
Journal Section	Articles
Authors	Hatice Ezgi Baris This is me Cisem Aksu Lımon This is me Cisem Aksu Limon This is me Irmak Vural This is me Eda Kepenekli This is me Eda Kepenekli This is me Ahmet Koc This is me Ayca Kıykım This is me Ayca Kiykim This is me Deniz Yucelten This is me Deniz Yucelten This is me Ozgur Kasapcopur This is me Ozgur Kasapcopur This is me Safa Baris This is me Safa Barıs This is me Elif Karakoc Aydıner This is me Elif Karakoc-aydiner This is me Ahmet Ozen This is me İsil Barlan This is me Isil Barlan This is me
Publication Date	March 4, 2016
Published in Issue	Year 2016 Volume: 29 Issue: 1

Cite

APA	Baris, H. E., Aksu Lımon, C., Aksu Limon, C., Vural, I., et al. (2016). Primer katastrofik antifosfolipid sendrom: 8 yaşında kız çocuk. Marmara Medical Journal, 29(1), 41-44. https://doi.org/10.5472/MMJcr.2901.07
AMA	Baris HE, Aksu Lımon C, Aksu Limon C, Vural I, Kepenekli E, Kepenekli E, Koc A, Kıykım A, Kiykim A, Yucelten D, Yucelten D, Kasapcopur O, Kasapcopur O, Baris S, Barıs S, Karakoc Aydıner E, Karakoc-aydiner E, Ozen A, Barlan İ, Barlan I. Primer katastrofik antifosfolipid sendrom: 8 yaşında kız çocuk. Marmara Med J. March 2016;29(1):41-44. doi:10.5472/MMJcr.2901.07
Chicago	Baris, Hatice Ezgi, Cisem Aksu Lımon, Cisem Aksu Limon, Irmak Vural, Eda Kepenekli, Eda Kepenekli, Ahmet Koc, Ayca Kıykım, Ayca Kiykim, Deniz Yucelten, Deniz Yucelten, Ozgur Kasapcopur, Ozgur Kasapcopur, Safa Baris, Safa Barıs, Elif Karakoc Aydıner, Elif Karakoc-aydiner, Ahmet Ozen, İsil Barlan, and Isil Barlan. “Primer Katastrofik Antifosfolipid Sendrom: 8 yaşında kız çocuk”. Marmara Medical Journal 29, no. 1 (March 2016): 41-44. https://doi.org/10.5472/MMJcr.2901.07.
EndNote	Baris HE, Aksu Lımon C, Aksu Limon C, Vural I, Kepenekli E, Kepenekli E, Koc A, Kıykım A, Kiykim A, Yucelten D, Yucelten D, Kasapcopur O, Kasapcopur O, Baris S, Barıs S, Karakoc Aydıner E, Karakoc-aydiner E, Ozen A, Barlan İ, Barlan I (March 1, 2016) Primer katastrofik antifosfolipid sendrom: 8 yaşında kız çocuk. Marmara Medical Journal 29 1 41–44.
IEEE	H. E. Baris, “Primer katastrofik antifosfolipid sendrom: 8 yaşında kız çocuk”, Marmara Med J, vol. 29, no. 1, pp. 41–44, 2016, doi: 10.5472/MMJcr.2901.07.
ISNAD	Baris, Hatice Ezgi et al. “Primer Katastrofik Antifosfolipid Sendrom: 8 yaşında kız çocuk”. Marmara Medical Journal 29/1 (March 2016), 41-44. https://doi.org/10.5472/MMJcr.2901.07.
JAMA	Baris HE, Aksu Lımon C, Aksu Limon C, Vural I, Kepenekli E, Kepenekli E, Koc A, Kıykım A, Kiykim A, Yucelten D, Yucelten D, Kasapcopur O, Kasapcopur O, Baris S, Barıs S, Karakoc Aydıner E, Karakoc-aydiner E, Ozen A, Barlan İ, Barlan I. Primer katastrofik antifosfolipid sendrom: 8 yaşında kız çocuk. Marmara Med J. 2016;29:41–44.
MLA	Baris, Hatice Ezgi et al. “Primer Katastrofik Antifosfolipid Sendrom: 8 yaşında kız çocuk”. Marmara Medical Journal, vol. 29, no. 1, 2016, pp. 41-44, doi:10.5472/MMJcr.2901.07.
Vancouver	Baris HE, Aksu Lımon C, Aksu Limon C, Vural I, Kepenekli E, Kepenekli E, Koc A, Kıykım A, Kiykim A, Yucelten D, Yucelten D, Kasapcopur O, Kasapcopur O, Baris S, Barıs S, Karakoc Aydıner E, Karakoc-aydiner E, Ozen A, Barlan İ, Barlan I. Primer katastrofik antifosfolipid sendrom: 8 yaşında kız çocuk. Marmara Med J. 2016;29(1):41-4.