LATE DIAGNOSIS OF CONGENITAL METHEMOGLOBINEMIA IN A 33-YEAR-OLD CYANOTIC PATIENT, CASE REPORT AND REVIEW OF LITERATURE

Objective: Due to mild symptoms, congenital methemoglobinemia is rarely diagnosed and reported as a cause of the cyanosis, especially in adults. Despite the benign nature of congenital methemoglobinemia, it is crucial to keep it in the differential diagnosis list when assessing cyanotic patients, ma...

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Autores principales:	MAYA ALDEEB, MOHAMED YASSIN
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Diseases of the blood and blood-forming organs RC633-647.5
Acceso en línea:	https://doaj.org/article/2a0ffd309a7a446b8cc6d3c75728dc31
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spelling	oai:doaj.org-article:2a0ffd309a7a446b8cc6d3c75728dc312021-11-10T04:37:41ZLATE DIAGNOSIS OF CONGENITAL METHEMOGLOBINEMIA IN A 33-YEAR-OLD CYANOTIC PATIENT, CASE REPORT AND REVIEW OF LITERATURE2531-137910.1016/j.htct.2021.10.1059https://doaj.org/article/2a0ffd309a7a446b8cc6d3c75728dc312021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2531137921012062https://doaj.org/toc/2531-1379Objective: Due to mild symptoms, congenital methemoglobinemia is rarely diagnosed and reported as a cause of the cyanosis, especially in adults. Despite the benign nature of congenital methemoglobinemia, it is crucial to keep it in the differential diagnosis list when assessing cyanotic patients, mainly if he has a normal PaO2. Patients are usually asymptomatic and are treated for cosmetic purposes, but they might suffer from severe complications if exposed to oxidative agents. Case report: A 33-year-old lady presented to ED with difficulty breathing and bluish discoloration gradually increased over days, without fever or cough. she mentioned having recurrent similar episodes since childhood. family history positive for similar episodes in the sister. physical examination positive for central and peripheral cyanosis, with o2sat of 88% and RR of 20, the rest of examination within normal limits. laboratory tests normal except for ht 48.9%, PO2 160 on ABGs. Methodology: The patient's clinical picture of cyanosis with no evidence of cardiovascular or pulmonary diseases and the discrepancy between PaO2 and O2 saturation on oximeter required thinking of methemoglobinemia as a possible diagnosis despite the patient's age and the absence of any exposures. Methemoglobin level 20.9% (0-1.5%). Hemoglobin electrophoresis did not detect any abnormal hemoglobin. The activity of NADH cytochrome b5 reductase or the level were not done. Results: We searched PubMed and Google Scholar, we found 22 articles with a total of 30 patients with congenital methemoglobinemia. The mean age of the patients was 25 years (range 2 days-61 years); most of them were previously healthy. Out of 30 patients, 16 were treated with ascorbic acid or methylene blue or both with improvement, 14 either were not treated or treatment not mentioned in the report. Our patient received ascorbic acid 500 mg BID orally and improved clinically and laboratory. Conclusion: Due to mild symptoms, congenital methemoglobinemia is rarely diagnosed and reported as a cause of the cyanosis, especially in adults. Despite the benign nature of congenital methemoglobinemia, it is crucial to keep it in the differential diagnosis list when assessing cyanotic patients, mainly if he has a normal PaO2. Patients are usually asymptomatic and are treated for cosmetic purposes, but they might suffer from severe complications if exposed to oxidative agents.MAYA ALDEEBMOHAMED YASSINElsevierarticleDiseases of the blood and blood-forming organsRC633-647.5ENHematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S51- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Diseases of the blood and blood-forming organs RC633-647.5
spellingShingle	Diseases of the blood and blood-forming organs RC633-647.5 MAYA ALDEEB MOHAMED YASSIN LATE DIAGNOSIS OF CONGENITAL METHEMOGLOBINEMIA IN A 33-YEAR-OLD CYANOTIC PATIENT, CASE REPORT AND REVIEW OF LITERATURE
description	Objective: Due to mild symptoms, congenital methemoglobinemia is rarely diagnosed and reported as a cause of the cyanosis, especially in adults. Despite the benign nature of congenital methemoglobinemia, it is crucial to keep it in the differential diagnosis list when assessing cyanotic patients, mainly if he has a normal PaO2. Patients are usually asymptomatic and are treated for cosmetic purposes, but they might suffer from severe complications if exposed to oxidative agents. Case report: A 33-year-old lady presented to ED with difficulty breathing and bluish discoloration gradually increased over days, without fever or cough. she mentioned having recurrent similar episodes since childhood. family history positive for similar episodes in the sister. physical examination positive for central and peripheral cyanosis, with o2sat of 88% and RR of 20, the rest of examination within normal limits. laboratory tests normal except for ht 48.9%, PO2 160 on ABGs. Methodology: The patient's clinical picture of cyanosis with no evidence of cardiovascular or pulmonary diseases and the discrepancy between PaO2 and O2 saturation on oximeter required thinking of methemoglobinemia as a possible diagnosis despite the patient's age and the absence of any exposures. Methemoglobin level 20.9% (0-1.5%). Hemoglobin electrophoresis did not detect any abnormal hemoglobin. The activity of NADH cytochrome b5 reductase or the level were not done. Results: We searched PubMed and Google Scholar, we found 22 articles with a total of 30 patients with congenital methemoglobinemia. The mean age of the patients was 25 years (range 2 days-61 years); most of them were previously healthy. Out of 30 patients, 16 were treated with ascorbic acid or methylene blue or both with improvement, 14 either were not treated or treatment not mentioned in the report. Our patient received ascorbic acid 500 mg BID orally and improved clinically and laboratory. Conclusion: Due to mild symptoms, congenital methemoglobinemia is rarely diagnosed and reported as a cause of the cyanosis, especially in adults. Despite the benign nature of congenital methemoglobinemia, it is crucial to keep it in the differential diagnosis list when assessing cyanotic patients, mainly if he has a normal PaO2. Patients are usually asymptomatic and are treated for cosmetic purposes, but they might suffer from severe complications if exposed to oxidative agents.
format	article
author	MAYA ALDEEB MOHAMED YASSIN
author_facet	MAYA ALDEEB MOHAMED YASSIN
author_sort	MAYA ALDEEB
title	LATE DIAGNOSIS OF CONGENITAL METHEMOGLOBINEMIA IN A 33-YEAR-OLD CYANOTIC PATIENT, CASE REPORT AND REVIEW OF LITERATURE
title_short	LATE DIAGNOSIS OF CONGENITAL METHEMOGLOBINEMIA IN A 33-YEAR-OLD CYANOTIC PATIENT, CASE REPORT AND REVIEW OF LITERATURE
title_full	LATE DIAGNOSIS OF CONGENITAL METHEMOGLOBINEMIA IN A 33-YEAR-OLD CYANOTIC PATIENT, CASE REPORT AND REVIEW OF LITERATURE
title_fullStr	LATE DIAGNOSIS OF CONGENITAL METHEMOGLOBINEMIA IN A 33-YEAR-OLD CYANOTIC PATIENT, CASE REPORT AND REVIEW OF LITERATURE
title_full_unstemmed	LATE DIAGNOSIS OF CONGENITAL METHEMOGLOBINEMIA IN A 33-YEAR-OLD CYANOTIC PATIENT, CASE REPORT AND REVIEW OF LITERATURE
title_sort	late diagnosis of congenital methemoglobinemia in a 33-year-old cyanotic patient, case report and review of literature
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/2a0ffd309a7a446b8cc6d3c75728dc31
work_keys_str_mv	AT mayaaldeeb latediagnosisofcongenitalmethemoglobinemiaina33yearoldcyanoticpatientcasereportandreviewofliterature AT mohamedyassin latediagnosisofcongenitalmethemoglobinemiaina33yearoldcyanoticpatientcasereportandreviewofliterature
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LATE DIAGNOSIS OF CONGENITAL METHEMOGLOBINEMIA IN A 33-YEAR-OLD CYANOTIC PATIENT, CASE REPORT AND REVIEW OF LITERATURE

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