Letter to the Editor
Acute porphyric polyneuropathy in a pregnant patient with systemic lupus erythematosus
Polineuropatía porfírica aguda en una paciente embarazada con lupus eritematoso sistémico
a Neurology Department, Department of Neurosciences and Mental Health, Hospital de Santa Maria – Centro Hospitalar Lisboa Norte, Avenida Professor Egas Moniz, Lisboa, Portugal
b Faculdade de Medicina, Universidade de Lisboa, Avenida Professor Egas Moniz, Portugal
c Department of Basic & Clinical Neuroscience, King's College London, London, United Kingdom
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(b) Gradient Echo T2 sequence one month later showing hypointense signal around temporal lobe due to subarachnoid hemorrhage and around right frontal hemorrhage. No hypointense signals suggestive of microbleeds are showed. (c) High signal lesions on axial FLAIR-T2 sequence one month later showing juxtacortical and periventricular lesions suggestive of MS diagnosis. (d) CT brain (2019) showing left frontal hemorrhage, subarachnoid hemorrhage around frontal and temporal lobe, and mass effect.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "A. Sánchez-Soblechero, J.P. Cuello, M.L. Martínez Ginés, A. Lozano Ros, F. Romero Delgado, C. De Andrés, H. Goicochea Briceño, J.M. García Domínguez" "autores" => array:8 [ 0 => array:2 [ "nombre" => "A." "apellidos" => "Sánchez-Soblechero" ] 1 => array:2 [ "nombre" => "J.P." "apellidos" => "Cuello" ] 2 => array:2 [ "nombre" => "M.L." "apellidos" => "Martínez Ginés" ] 3 => array:2 [ "nombre" => "A." 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"apellidos" => "Feliz" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173580822000050?idApp=UINPBA00004N" "url" => "/21735808/0000003700000001/v1_202201220534/S2173580822000050/v1_202201220534/en/main.assets" ] "en" => array:15 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Acute porphyric polyneuropathy in a pregnant patient with systemic lupus erythematosus" "tieneTextoCompleto" => true "saludo" => "Dear Editor:" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "76" "paginaFinal" => "77" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "S. Parreira, P.F. Viana, A.P. Antunes, L. Albuquerque" "autores" => array:4 [ 0 => array:4 [ "nombre" => "S." "apellidos" => "Parreira" "email" => array:1 [ 0 => "sara.b.parreira@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "P.F." "apellidos" => "Viana" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 2 => array:3 [ "nombre" => "A.P." "apellidos" => "Antunes" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 3 => array:3 [ "nombre" => "L." "apellidos" => "Albuquerque" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Neurology Department, Department of Neurosciences and Mental Health, Hospital de Santa Maria – Centro Hospitalar Lisboa Norte, Avenida Professor Egas Moniz, Lisboa, Portugal" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Faculdade de Medicina, Universidade de Lisboa, Avenida Professor Egas Moniz, Portugal" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Department of Basic & Clinical Neuroscience, King's College London, London, United Kingdom" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Polineuropatía porfírica aguda en una paciente embarazada con lupus eritematoso sistémico" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Guillain-Barré syndrome (GBS) is a heterogenous condition and may be mimicked by other acute polyneuropathies. Both acute porphyria and systemic lupus erythematosus (SLE) are included in this differential diagnosis. We report an instance of acute polyneuropathy in a pregnant patient with known SLE, whose neurological picture occurred during a flare of SLE but was found to be due to a previously undiagnosed hereditary coproporphyria (HCP).</p><p id="par0010" class="elsevierStylePara elsevierViewall">We present the case of a 25-year-old Asian female with SLE with severe multisystemic involvement, diagnosed during a life-threatening flare in her first pregnancy. There was no other relevant personal or family history. Medication included prednisolone 5<span class="elsevierStyleHsp" style=""></span>mg, azathioprine 100<span class="elsevierStyleHsp" style=""></span>mg, and hydroxychloroquine 400<span class="elsevierStyleHsp" style=""></span>mg. She was admitted for abdominal pain, vomiting, and constipation, followed by dark urine; she also described other self-limiting abdominal pain episodes over the previous 2 years. On examination, persistent tachycardia was noted. Laboratory studies were significant for hypocomplementemia, elevated erythrocyte sedimentation rate and elevated β-Human chorionic gonadotropin compatible with a 1–2-week pregnancy. There was no laboratory evidence of hematuria. Abdominal and obstetric ultrasound, and abdominal MRI were unremarkable. A provisional diagnosis of SLE-associated autonomic neuropathy was made and she was treated with IV methylprednisolone pulse plus an increase in prednisolone to 1<span class="elsevierStyleHsp" style=""></span>mg/kg/day. A rapidly progressive quadriparesis developed the first week after admission. On day 7 the patient was unable to independently walk, had a generalized areflexia, and patchy hypoesthesia. Electrodiagnostic studies showed increased F wave latency and absent H reflexes, suggesting GBS. CSF studies were normal. Despite treatment with intravenous immunoglobulin, followed by plasma exchange, her neurological condition continued to deteriorate, with facial diplegia, worsening of quadriparesis (grade 2 MRC in the proximal segments and grade 0 distally), marked hypopalesthesia and proprioceptive errors up to the knees and elbows, and periods of severe dysautonomia. Repeat nerve conduction studies showed an acute sensory-motor axonal neuropathy (AMSAN). Meanwhile, the patient developed thrombocytopenia, prolonged clotting times, hypoproliferative anemia and elevated hepatic transaminases, and a provisional diagnosis of SLE flare with SLE-related acute polyneuropathy was made. The patient agreed to an interruption of the pregnancy, followed by treatment with cyclophosphamide. Systemic manifestations resolved, without any improvement of neurological symptoms. Additional investigations for GBS mimics were ordered, and urinary porphobilinogen and porphyrins were markedly elevated (<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>). After withdrawal of potentially porphyrinogenic drugs and administration of IV hemin, the patient showed dramatic improvement, with resolution of sensory manifestations and plateauing of muscle strength. She was discharged to a rehabilitation center. At 20 months after onset, full recovery had occurred except for bilateral grade 4 MRCankle dorsiflexion. Genetic testing revealed a previously unreported <span class="elsevierStyleItalic">CPOX</span> gene variant (NM_000097.5:c.245T>C [p.Leu82Pro]).</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">The present case illustrates a challenging differential diagnosis of acute polyneuropathy. Our patient had both an established diagnosis of SLE and laboratory evidence of increased disease activity. Still, she defied Occam's razor and final diagnosis was of a second chronic disease, hereditary coproporphyria (HCP), as the cause of the neurological symptoms.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Clinical reasoning favors acute porphyric neuropathy against SLE-associated neuropathy: there had been self-limiting abdominal pain episodes accompanied by dark urine, abdominal pain and dysautonomia occurred before the acute neuropathy, and response to immunosuppression was absent while there was a response to hemin treatment and withdrawal of porphyrinogenic drugs. The lack of cutaneous manifestations is not unexpected, since they are far less frequent than neurovisceral manifestations in patients with HCP, occurring only in 5–30% of patients.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> The main limitations of the present report include limited biochemical testing (unavailable fecal and plasma porphyrin testing; urinary porphyrins and PBG unadjusted for creatinine) and incomplete genetic testing, namely of unaffected family members. However, clinical presentation was consistent with neurovisceral porphyria, no alternative causes were present for the expressive elevation of PBG and porphyrins, and a <span class="elsevierStyleItalic">CPOX</span> variant was found.</p><p id="par0025" class="elsevierStylePara elsevierViewall">To the best of our knowledge, two other cases of SLE and hereditary coproporphyria have been reported.<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">2,3</span></a> This association is most likely fortuitous, considering the low number of reports and weak evidence for shared pathological mechanisms. On the other hand, both entities present mainly in women of childbearing age, and can be precipitated by external factors. In the present case, pregnancy was likely the common factor precipitating flares of both SLE and HCP, although it is an infrequent precipitant for the latter.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> An SLE flare could precipitate a porphyric attack through caloric deprivation, but the presenting abdominal symptoms and dysautonomia were likely porphyric. In addition, drugs used to treat SLE could have aggravated the porphyria, since methylprednisolone, cyclophosphamide, and hydroxychloroquine are all possibly porphyrinogenic.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">Though acute porphyrias are rare disorders, one study found a surprisingly high prevalence of 11% previously undiagnosed cases in patients with acute polyneuropathy or encephalopathy in combination with abdominal pain or dysautonomic features.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">Our case highlights the necessity of including porphyria in the differential diagnosis of an acute polyneuropathy, even when alternative causes are present. The availability of specific therapy and preventive measures has important clinical implications, not only for the patient but also to family members, since without prompt treatment recovery is unpredictable and often incomplete.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflict of interest</span><p id="par0040" class="elsevierStylePara elsevierViewall">The authors declare no conflicts of interest and no disclosures relevant to the manuscript. Informed consent was obtained from the patient for publication of this case report.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Conflict of interest" ] 1 => array:2 [ "identificador" => "xack582685" "titulo" => "Acknowledgements" ] 2 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:1 [ 0 => array:8 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at1" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:1 [ "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">PBG (<1.5<span class="elsevierStyleHsp" style=""></span>mg/L) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="char" valign="\n \t\t\t\t\ttop\n \t\t\t\t">12.10 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">PBG (24<span class="elsevierStyleHsp" style=""></span>h) (<2.0<span class="elsevierStyleHsp" style=""></span>mg/24<span class="elsevierStyleHsp" style=""></span>h) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="char" valign="\n \t\t\t\t\ttop\n \t\t\t\t">18.15 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">ALA (<0.6<span class="elsevierStyleHsp" style=""></span>mg/dL) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="char" valign="\n \t\t\t\t\ttop\n \t\t\t\t">32.50 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">ALA (24<span class="elsevierStyleHsp" style=""></span>h) (<8.0<span class="elsevierStyleHsp" style=""></span>mg/24<span class="elsevierStyleHsp" style=""></span>h) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="char" valign="\n \t\t\t\t\ttop\n \t\t\t\t">42.25 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Coproporphyrin (<150<span class="elsevierStyleHsp" style=""></span>μg/L) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="char" valign="\n \t\t\t\t\ttop\n \t\t\t\t">3097 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Uroporphyrin (5–30<span class="elsevierStyleHsp" style=""></span>μg/L) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="char" valign="\n \t\t\t\t\ttop\n \t\t\t\t">4410 \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab2809243.png" ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Urinary porphobilinogen (PBG) and urinary porphyrins before treatment with hemin. ALA: delta-aminolevulinic acid.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Update review of the acute porphyrias" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "P.E. Stein" 1 => "M.N. Badminton" 2 => "D.C. 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"autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "E. Pischik" 1 => "V. Kazakov" 2 => "R. Kauppinen" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1007/s00415-008-0779-9" "Revista" => array:6 [ "tituloSerie" => "J Neurol" "fecha" => "2008" "volumen" => "255" "paginaInicial" => "974" "paginaFinal" => "979" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/18574620" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] "agradecimientos" => array:1 [ 0 => array:4 [ "identificador" => "xack582685" "titulo" => "Acknowledgements" "texto" => "<p id="par0045" class="elsevierStylePara elsevierViewall">The authors wish to thank Dr. Estela Nogueira, from the Nephrology Department, and Dr. Catarina Resende, from the Rheumatology Department, for their expertise and assistance in the present case.</p>" "vista" => "all" ] ] ] "idiomaDefecto" => "en" "url" => "/21735808/0000003700000001/v1_202201220534/S2173580822000049/v1_202201220534/en/main.assets" "Apartado" => array:4 [ "identificador" => "9409" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Letters to the editor" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/21735808/0000003700000001/v1_202201220534/S2173580822000049/v1_202201220534/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173580822000049?idApp=UINPBA00004N" ]
| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 3 | 0 | 3 |
| 2024 October | 9 | 1 | 10 |
| 2024 September | 17 | 5 | 22 |
| 2024 August | 17 | 7 | 24 |
| 2024 July | 14 | 1 | 15 |
| 2024 June | 13 | 1 | 14 |
| 2024 May | 22 | 2 | 24 |
| 2024 April | 6 | 7 | 13 |
| 2024 March | 10 | 3 | 13 |
| 2024 February | 16 | 3 | 19 |
| 2024 January | 13 | 8 | 21 |
| 2023 December | 10 | 12 | 22 |
| 2023 November | 7 | 7 | 14 |
| 2023 October | 18 | 14 | 32 |
| 2023 September | 11 | 4 | 15 |
| 2023 August | 17 | 7 | 24 |
| 2023 July | 10 | 2 | 12 |
| 2023 June | 16 | 7 | 23 |
| 2023 May | 34 | 3 | 37 |
| 2023 April | 29 | 3 | 32 |
| 2023 March | 13 | 4 | 17 |
| 2023 February | 13 | 8 | 21 |
| 2023 January | 7 | 4 | 11 |
| 2022 December | 13 | 4 | 17 |
| 2022 November | 11 | 9 | 20 |
| 2022 October | 9 | 9 | 18 |
| 2022 September | 8 | 10 | 18 |
| 2022 August | 14 | 6 | 20 |
| 2022 July | 8 | 10 | 18 |
| 2022 June | 11 | 7 | 18 |
| 2022 May | 7 | 6 | 13 |
| 2022 April | 11 | 12 | 23 |
| 2022 March | 15 | 11 | 26 |
| 2022 February | 16 | 6 | 22 |
| 2022 January | 6 | 6 | 12 |
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