Investigation of the Level of Porphyria Disease Awareness in Primary Care Physicians

Aşkın Keskin Kaplan; Gülbüz Sezgin

doi:10.37989/gumussagbil.1357513

Research Article

Investigation of the Level of Porphyria Disease Awareness in Primary Care Physicians

Year 2023, Volume: 12 Issue: 3, 870 - 876, 26.09.2023

Aşkın Keskin Kaplan Gülbüz Sezgin

https://doi.org/10.37989/gumussagbil.1357513

Abstract

This study aimed to assess awareness of Porphyria Disease among primary care physicians and investigate its diagnosis and management. This study is a cross-sectional online survey conducted with the participation of 390 primary care physicians in Turkey. Participants were recruited through online platforms, including WhatsApp and email groups. Participants who provided consent were administered an online electronic survey created using Google Forms. Data were analyzed using IBM SPSS Statistics version 21.0. Ethical approval was granted by the Clinical Research Ethics Committee.
With an average of 14.13±9.56 years of medical experience, participants included 47.4% family medicine specialists, 38.5% family physicians, and 14.4% emergency medicine specialists. Only 10.5% of the total physicians reported evaluating patients with suspected Porphyria. Severe abdominal pain was the predominant symptom, cited by 78% of participants, while just 5.4% had previously been diagnosed with Porphyria. Notably, family medicine specialists exhibited a significantly higher inclination for both preliminary (p<0.001) and confirmed (p=0.041) porphyria diagnosis. 81.0% of physicians considered Familial Mediterranean Fever as part of their differential diagnosis when assessing patients with porphyria symptoms.
In conclusion, our study highlights an increased awareness of Porphyria among primary care physicians, likely owing to advancements in diagnostic methods. However, the need to raise awareness remains, given its crucial role in diagnosis. Therefore, it is essential to involve primary care physicians, particularly family medicine specialists and emergency medicine specialists, in porphyria education and awareness initiatives. These efforts can ensure accurate diagnoses and better care for patients affected by this rare disease.

Keywords

Awareness, Family medicine, Primary care, Porphyria disease

Project Number

2023/900/25

References

1. Phillips, J.D. (2019). "Heme biosynthesis and the porphyrias". Molecular genetics and metabolism, 128(3), 164-177. https://doi.org/10.1016/j.ymgme.2019.04.008
2. Anderson, K.E, Lobo, R, Salazar, D, Schloetter, M, Spitzer, G, White, A.L, Young, R.M, Bonkovsky, H.L, Frank, E.L, Mora, J. and Tortorelli, S. (2021). "Biochemical diagnosis of acute hepatic porphyria: updated expert recommendations for primary care physicians". The American Journal of the Medical Sciences, 362(2),113-121. https://doi.org/10.1016/j.amjms.2021.03.004.
3. Hindmarsh, J.T, Oliveras, L. and Greenway, D.C. (1999). "Biochemical differentiation of the porphyrias". Clinical biochemistry, 32(8), 609-619. https://doi.org/10.1016/S0009-9120(99)00067-3
4. de Rooij, W.M, Edixhoven, A. and Wilson, J.H. (2003). "Porphyria: a diagnostic approach". In: Kadish KM, Smith KM, Guilard R, eds. The porphyrin handbook (pp. 211-245). St Louis: Elsevier. https://doi.org/10.1016/B978-0-08-092388-8.50015-7
5. Nordmann, Y. and Puy, H. (2002). "Human hereditary hepatic porphyrias". Clinica chimica acta, 325(1-2), 17-37. https://doi.org/10.1016/S0009-8981(02)00276-0.
6. Anderson, K.E, Bloomer, J.R, Bonkovsky, H.L, Kushner, J.P, Pierach, C.A, Pimstone, N.R. and Desnick, R.J. (2005). "Recommendations for the diagnosis and treatment of the acute porphyrias." Annals of internal medicine, 142(6), 439-450. https://doi.org/10.7326/0003-4819-142-6-200503150-00010
7. Puy, H, Gouya, L. and Deybach, J.C. (2010). "Porphyrias". Porphyrias. The Lancet, 375(9718), 924-937. https://doi.org/10.1016/S0140-6736(09)61925-5
8. Trier, H, Krishnasamy, V.P. and Kasi, P.M. (2013). "Clinical manifestations and diagnostic challenges in acute porphyrias". Case reports in hematology, 2013(628602). https://doi.org/10.1155/2013/628602
9. Balwani, M. and Desnick, R.J. (2012). "The porphyrias: advances in diagnosis and treatment". Blood, The Journal of the American Society of Hematology, 120(23), 4496-4504. https://doi.org/10.1182/blood-2012-05-423186.
10. Sarkany, R.P. (2008). "Making sense of the porphyrias". Photodermatology, photoimmunology and photomedicine, 24(2), 102-108. https://doi.org/10.1111/j.1600-0781.2008.00336.x
11. Ghosh, S, Chaudhury, P.K. and Goswami, H.K. (2006). "An analysis of six cases of acute intermittent Porphyria (AIP)". Indian Journal of Psychiatry, 48(3), 189. https://doi: 10.4103/0019-5545.31584.
12. Kumar, S, Sharma, N, Modi, M, Sharma, A, Mahi, S. and Varma, S. (2010). "Spectrum of emergency department presentation in patients of acute intermittent Porphyria: experience from a North Indian tertiary care center". Neurol India, 58(1), 95-8. https://doi.org/10.4103/0028-3886.60410
13. Andersen, E.K. (2000). "The porphyrias." In: Goldman L, Bennett JC (eds). Cecil Textbook of Medicine (pp. 1123-1130). Philadelphia: WB Saunders Company. 14. Singal, A.K. (2019). "Porphyria cutanea tarda: Recent update". Molecular genetics and metabolism, 128(3), 271-281. https://doi.org/10.1016/j.ymgme.2019.01.004.
15. Kiykim, E, Aktuglu-Zeybek, A.C, Barut, K, Zubarioglu, T, Cansever, M.S, Aydin, A. and Kasapcopur, O. (2015). "Screening for inherited metabolic disorders in patients with Familial Mediterranean Fever". Pediatric Rheumatology, 13, 1-1. https://doi:10.1186/1546-0096-13-S1-P97
16. Hultdin, J, Schmauch, A, Wikberg, A, Dahlquist, G. and Andersson, C. (2003) "Acute intermittent Porphyria in childhood: a populationbased study". Acta Paediatrica, 92(5), 562-568. https://doi.org/10.1111/j.1651-2227.2003.tb02507.x
17. Bonkovsky, H.L. and Barnard, G.F. (1998). "Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology". Seminars in Liver Disease, 18(1), 57-65. https://doi:10.1055/s-2007-1007141
18. Bonkovsky, H.L, Maddukuri, V.C, Yazici, C, Anderson, K.E, Bissell, D.M, Bloomer, J.R, Phillips, J.D, Naik, H, Peter, I. and Baillargeon, G. (2014). "Acute porphyrias in the usa: features of 108 subjects from porphyrias consortium". The American journal of medicine, 127(12), 1233-1241. https://doi.org/10.1016/j.amjmed.2014.06.036
19. Ventura, P. (2021). "When awareness makes the difference: diagnosing and treating the acute hepatic porphyrias". Internal and Emergency Medicine, 16(1), 25-27. https://doi.org/10.1007/s11739-020-02421-0
20. Stein, J. A. and Tschudy, D.P. (1970). "Acute intermittent Porphyria: a clinical and biochemical study of 46 patients". Medicine, 49(1), 1-16.
21. Waldenstrom, J. (1957). "The porphyrias as inborn errors of metabolism". The American Journal of Medicine, 22(5), 758-773. https://doi.org/10.1016/0002-9343(57)90126-2

Birinci Basamak Hekimlerde Porfriya Hastalık Farkındalığı Düzeyinin Araştırılması

Year 2023, Volume: 12 Issue: 3, 870 - 876, 26.09.2023

Aşkın Keskin Kaplan Gülbüz Sezgin

https://doi.org/10.37989/gumussagbil.1357513

Abstract

Bu çalışma, birinci basamak hekimleri arasında Porfiri Hastalığı farkındalığını, tanı ve tedavideki yaklaşımları araştırmayı amaçlamıştır.Bu çalışma, Türkiye'deki 390 birinci basamakta görev yapan hekimin katılımıyla gerçekleştirilen kesitsel bir çevrimiçi anket çalışmasıdır. WhatsApp ve e-posta grupları gibi çevrimiçi platformlar aracılığıyla Google Forms kullanılarak hazırlanan çevrimiçi elektronik anket ile katılımcılardan alınan onay sonrasında veriler toplanmıştır. Toplanan veriler, IBM SPSS Statistics sürüm 21.0 ile analiz edilmiştir. Bu çalışmaya Klinik Araştırma Etik Komitesi tarafından etik onay sağlanmıştır.
Ortalama 14,13±9,56 yıllık tıbbi deneyime sahip katılımcıların %47,4'ü aile hekimliği uzmanı, %38,5'i aile hekimi ve %14,4'ü acil tıp uzmanıydı.Toplam hekimlerin yalnızca %10,5'i ayırıcı tanıda porfiri hastalığını değerlendirdiğini bildirdi. birinci basamak hekimlerin %78'i tarafından şiddetli karın ağrısı en sık görülen semptom olarak belirtilirken daha önce porfiri tanısı koyduğunu hekimlerin %5,4'ü belirtmiştir.Özellikle Aile Hekimliğ uzmanlarının, aile hekimleri ve acil tıp uzmanlarına göre daha fazla porfiria öntanısı düşündüğü (p<0.001) ve porfiria tanısı koyduğu görüldü (p=0.041). Porfiri semptomları olan hastaları değerlendirirken hekimlerin %81,0'ı ise Ailesel Akdeniz Ateşini ayırıcı tanılarının bir parçası olarak değerlendirdi.
Sonuç olarak çalışmamız, tanı yöntemlerindeki gelişmelere bağlı olarak birinci basamak hekimleri arasında porfiri konusunda farkındalığın geçmiş yıllara göre artığı ancak porfiri hastalık farkındalığının tanıdaki hayati rolü göz önüne alındığında, çalışmamızda ortaya çıkan düşük oranın arttırılmasına duyulan ihtiyacın devam etiğini düşündürtmektedir. Bu bağlamda, birinci basamak hekimlerinin, özellikle aile hekimleri, aile hekimliği uzmanları ve acil tıp uzmanlarının porfiriya hastalığına yönelik eğitim ve farkındalık programlarına dahil edilmelerinin önemli olduğu düşünülmektedir.

Keywords

Aile hekimliği, Birinci basamak sağlık hizmeti, Farkındalık, Porfiriya

Ethical Statement

Çalışmaya ait etik kurul izni, Maltepe Üniversitesi Klinik Araştırmalar Etik Kurulu'ndan 2023/900/25 sayı ve 02.05.2023 tarihli kararla alınmıştır

Supporting Institution

there are no conflict of interests

Project Number

2023/900/25

References

1. Phillips, J.D. (2019). "Heme biosynthesis and the porphyrias". Molecular genetics and metabolism, 128(3), 164-177. https://doi.org/10.1016/j.ymgme.2019.04.008
2. Anderson, K.E, Lobo, R, Salazar, D, Schloetter, M, Spitzer, G, White, A.L, Young, R.M, Bonkovsky, H.L, Frank, E.L, Mora, J. and Tortorelli, S. (2021). "Biochemical diagnosis of acute hepatic porphyria: updated expert recommendations for primary care physicians". The American Journal of the Medical Sciences, 362(2),113-121. https://doi.org/10.1016/j.amjms.2021.03.004.
3. Hindmarsh, J.T, Oliveras, L. and Greenway, D.C. (1999). "Biochemical differentiation of the porphyrias". Clinical biochemistry, 32(8), 609-619. https://doi.org/10.1016/S0009-9120(99)00067-3
4. de Rooij, W.M, Edixhoven, A. and Wilson, J.H. (2003). "Porphyria: a diagnostic approach". In: Kadish KM, Smith KM, Guilard R, eds. The porphyrin handbook (pp. 211-245). St Louis: Elsevier. https://doi.org/10.1016/B978-0-08-092388-8.50015-7
5. Nordmann, Y. and Puy, H. (2002). "Human hereditary hepatic porphyrias". Clinica chimica acta, 325(1-2), 17-37. https://doi.org/10.1016/S0009-8981(02)00276-0.
6. Anderson, K.E, Bloomer, J.R, Bonkovsky, H.L, Kushner, J.P, Pierach, C.A, Pimstone, N.R. and Desnick, R.J. (2005). "Recommendations for the diagnosis and treatment of the acute porphyrias." Annals of internal medicine, 142(6), 439-450. https://doi.org/10.7326/0003-4819-142-6-200503150-00010
7. Puy, H, Gouya, L. and Deybach, J.C. (2010). "Porphyrias". Porphyrias. The Lancet, 375(9718), 924-937. https://doi.org/10.1016/S0140-6736(09)61925-5
8. Trier, H, Krishnasamy, V.P. and Kasi, P.M. (2013). "Clinical manifestations and diagnostic challenges in acute porphyrias". Case reports in hematology, 2013(628602). https://doi.org/10.1155/2013/628602
9. Balwani, M. and Desnick, R.J. (2012). "The porphyrias: advances in diagnosis and treatment". Blood, The Journal of the American Society of Hematology, 120(23), 4496-4504. https://doi.org/10.1182/blood-2012-05-423186.
10. Sarkany, R.P. (2008). "Making sense of the porphyrias". Photodermatology, photoimmunology and photomedicine, 24(2), 102-108. https://doi.org/10.1111/j.1600-0781.2008.00336.x
11. Ghosh, S, Chaudhury, P.K. and Goswami, H.K. (2006). "An analysis of six cases of acute intermittent Porphyria (AIP)". Indian Journal of Psychiatry, 48(3), 189. https://doi: 10.4103/0019-5545.31584.
12. Kumar, S, Sharma, N, Modi, M, Sharma, A, Mahi, S. and Varma, S. (2010). "Spectrum of emergency department presentation in patients of acute intermittent Porphyria: experience from a North Indian tertiary care center". Neurol India, 58(1), 95-8. https://doi.org/10.4103/0028-3886.60410
13. Andersen, E.K. (2000). "The porphyrias." In: Goldman L, Bennett JC (eds). Cecil Textbook of Medicine (pp. 1123-1130). Philadelphia: WB Saunders Company. 14. Singal, A.K. (2019). "Porphyria cutanea tarda: Recent update". Molecular genetics and metabolism, 128(3), 271-281. https://doi.org/10.1016/j.ymgme.2019.01.004.
15. Kiykim, E, Aktuglu-Zeybek, A.C, Barut, K, Zubarioglu, T, Cansever, M.S, Aydin, A. and Kasapcopur, O. (2015). "Screening for inherited metabolic disorders in patients with Familial Mediterranean Fever". Pediatric Rheumatology, 13, 1-1. https://doi:10.1186/1546-0096-13-S1-P97
16. Hultdin, J, Schmauch, A, Wikberg, A, Dahlquist, G. and Andersson, C. (2003) "Acute intermittent Porphyria in childhood: a populationbased study". Acta Paediatrica, 92(5), 562-568. https://doi.org/10.1111/j.1651-2227.2003.tb02507.x
17. Bonkovsky, H.L. and Barnard, G.F. (1998). "Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology". Seminars in Liver Disease, 18(1), 57-65. https://doi:10.1055/s-2007-1007141
18. Bonkovsky, H.L, Maddukuri, V.C, Yazici, C, Anderson, K.E, Bissell, D.M, Bloomer, J.R, Phillips, J.D, Naik, H, Peter, I. and Baillargeon, G. (2014). "Acute porphyrias in the usa: features of 108 subjects from porphyrias consortium". The American journal of medicine, 127(12), 1233-1241. https://doi.org/10.1016/j.amjmed.2014.06.036
19. Ventura, P. (2021). "When awareness makes the difference: diagnosing and treating the acute hepatic porphyrias". Internal and Emergency Medicine, 16(1), 25-27. https://doi.org/10.1007/s11739-020-02421-0
20. Stein, J. A. and Tschudy, D.P. (1970). "Acute intermittent Porphyria: a clinical and biochemical study of 46 patients". Medicine, 49(1), 1-16.
21. Waldenstrom, J. (1957). "The porphyrias as inborn errors of metabolism". The American Journal of Medicine, 22(5), 758-773. https://doi.org/10.1016/0002-9343(57)90126-2

There are 20 citations in total.

Details

Primary Language	English
Subjects	Emergency Medicine, Internal Diseases
Journal Section	Original Article
Authors	Aşkın Keskin Kaplan 0000-0003-4326-1529 Gülbüz Sezgin 0000-0002-0774-2766
Project Number	2023/900/25
Publication Date	September 26, 2023
Published in Issue	Year 2023 Volume: 12 Issue: 3

Cite

APA	Kaplan, A. K., & Sezgin, G. (2023). Investigation of the Level of Porphyria Disease Awareness in Primary Care Physicians. Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi, 12(3), 870-876. https://doi.org/10.37989/gumussagbil.1357513
AMA	Kaplan AK, Sezgin G. Investigation of the Level of Porphyria Disease Awareness in Primary Care Physicians. Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi. September 2023;12(3):870-876. doi:10.37989/gumussagbil.1357513
Chicago	Kaplan, Aşkın Keskin, and Gülbüz Sezgin. “Investigation of the Level of Porphyria Disease Awareness in Primary Care Physicians”. Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi 12, no. 3 (September 2023): 870-76. https://doi.org/10.37989/gumussagbil.1357513.
EndNote	Kaplan AK, Sezgin G (September 1, 2023) Investigation of the Level of Porphyria Disease Awareness in Primary Care Physicians. Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi 12 3 870–876.
IEEE	A. K. Kaplan and G. Sezgin, “Investigation of the Level of Porphyria Disease Awareness in Primary Care Physicians”, Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi, vol. 12, no. 3, pp. 870–876, 2023, doi: 10.37989/gumussagbil.1357513.
ISNAD	Kaplan, Aşkın Keskin - Sezgin, Gülbüz. “Investigation of the Level of Porphyria Disease Awareness in Primary Care Physicians”. Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi 12/3 (September 2023), 870-876. https://doi.org/10.37989/gumussagbil.1357513.
JAMA	Kaplan AK, Sezgin G. Investigation of the Level of Porphyria Disease Awareness in Primary Care Physicians. Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi. 2023;12:870–876.
MLA	Kaplan, Aşkın Keskin and Gülbüz Sezgin. “Investigation of the Level of Porphyria Disease Awareness in Primary Care Physicians”. Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi, vol. 12, no. 3, 2023, pp. 870-6, doi:10.37989/gumussagbil.1357513.
Vancouver	Kaplan AK, Sezgin G. Investigation of the Level of Porphyria Disease Awareness in Primary Care Physicians. Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi. 2023;12(3):870-6.

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