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  1. Article ; Online: How I treat erythropoietic protoporphyria and X-linked protoporphyria.

    Leaf, Rebecca Karp / Dickey, Amy K

    Blood

    2023  Volume 141, Issue 24, Page(s) 2921–2931

    Abstract: Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria caused by reduced expression of ferrochelatase, the enzyme that catalyzes the final step in heme biosynthesis. The resultant accumulation of protoporphyrin IX leads to severe, ... ...

    Abstract Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria caused by reduced expression of ferrochelatase, the enzyme that catalyzes the final step in heme biosynthesis. The resultant accumulation of protoporphyrin IX leads to severe, painful cutaneous photosensitivity, as well as potentially life-threatening liver disease in a small percentage of patients. X-linked protoporphyria (XLP) is clinically similar to EPP but results from increased activity of δ-aminolevulinic acid synthase 2, the first step in heme biosynthesis in the bone marrow, and also causes protoporphyrin accumulation. Although historically the management of EPP and XLP (collectively termed protoporphyria) centered around avoidance of sunlight, novel therapies have recently been approved or are in development, which will alter the therapeutic landscape for these conditions. We present 3 patient cases, highlighting key treatment considerations in patients with protoporphyria, including (1) approach to photosensitivity, (2) managing iron deficiency in protoporphyria, and (3) understanding hepatic failure in protoporphyria.
    MeSH term(s) Humans ; Protoporphyria, Erythropoietic/therapy ; Protoporphyria, Erythropoietic/complications ; Ferrochelatase/genetics ; Ferrochelatase/metabolism ; Liver Diseases ; Photosensitivity Disorders/etiology ; Photosensitivity Disorders/therapy ; Protoporphyrins ; Heme/metabolism
    Chemical Substances Ferrochelatase (EC 4.99.1.1) ; Protoporphyrins ; Heme (42VZT0U6YR)
    Language English
    Publishing date 2023-03-09
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood.2022018688
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  2. Article ; Online: Case 13-2023: A 25-Year-Old Woman with Abdominal Pain and Jerking Movements.

    Simmons, Leigh H / Nisavic, Mladen / Dickey, Amy K

    The New England journal of medicine

    2023  Volume 388, Issue 17, Page(s) 1609–1615

    MeSH term(s) Adult ; Female ; Humans ; Abdominal Pain/etiology ; Dyskinesias/etiology ; Myoclonus/etiology
    Language English
    Publishing date 2023-04-26
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMcpc2300896
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  3. Article ; Online: Update on the Porphyrias.

    Dickey, Amy K / Leaf, Rebecca Karp / Balwani, Manisha

    Annual review of medicine

    2023  Volume 75, Page(s) 321–335

    Abstract: The porphyrias are a group of rare diseases, each resulting from a defect in a different enzymatic step of the heme biosynthetic pathway. They can be broadly divided into two categories, hepatic and erythropoietic porphyrias, depending on the primary ... ...

    Abstract The porphyrias are a group of rare diseases, each resulting from a defect in a different enzymatic step of the heme biosynthetic pathway. They can be broadly divided into two categories, hepatic and erythropoietic porphyrias, depending on the primary site of accumulation of heme intermediates. These disorders are multisystemic with variable symptoms that can be encountered by physicians in any specialty. Here, we review the porphyrias and describe their clinical presentation, diagnosis, and management. We discuss novel therapies that are approved or in development. Early diagnosis is key for the appropriate management and prevention of long-term complications in these rare disorders.
    MeSH term(s) Humans ; Porphyrias/diagnosis ; Porphyrias/genetics ; Porphyrias/therapy ; Heme
    Chemical Substances Heme (42VZT0U6YR)
    Language English
    Publishing date 2023-08-04
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 207930-6
    ISSN 1545-326X ; 0066-4219
    ISSN (online) 1545-326X
    ISSN 0066-4219
    DOI 10.1146/annurev-med-042921-123602
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  4. Article: Diagnosis and management of protoporphyria-related liver dysfunction in erythropoietic protoporphyria and x-linked protoporphyria: A patient-friendly summary of the 2023 evidence-based consensus guidelines.

    Mann, Anna K / Allan, Liz / Wheeden, Kristen P / Dickey, Amy K / Levy, Cynthia

    Clinical liver disease

    2024  Volume 23, Issue 1, Page(s) e0133

    Language English
    Publishing date 2024-03-14
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2657644-2
    ISSN 2046-2484
    ISSN 2046-2484
    DOI 10.1097/CLD.0000000000000133
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  5. Article ; Online: Reply: Contrasting effect of iron supplementation in protoporphyria.

    Levy, Cynthia / Dickey, Amy K / Anderson, Karl E / Keel, Sioban B / Balwani, Manisha

    Hepatology (Baltimore, Md.)

    2023  Volume 79, Issue 3, Page(s) E89–E90

    MeSH term(s) Humans ; Iron/therapeutic use ; Protoporphyria, Erythropoietic/drug therapy ; Dietary Supplements
    Chemical Substances Iron (E1UOL152H7)
    Language English
    Publishing date 2023-10-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 604603-4
    ISSN 1527-3350 ; 0270-9139
    ISSN (online) 1527-3350
    ISSN 0270-9139
    DOI 10.1097/HEP.0000000000000640
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  6. Article: Potential Biomarkers for the Earlier Diagnosis of Kidney and Liver Damage in Acute Intermittent Porphyria.

    Storjord, Elin / Wahlin, Staffan / Karlsen, Bård Ove / Hardersen, Randolf I / Dickey, Amy K / Ludviksen, Judith K / Brekke, Ole-Lars

    Life (Basel, Switzerland)

    2023  Volume 14, Issue 1

    Abstract: Acute intermittent porphyria (AIP) is an inherited metabolic disorder associated with complications including kidney failure and hepatocellular carcinoma, probably caused by elevations in the porphyrin precursors porphobilinogen (PBG) and delta- ... ...

    Abstract Acute intermittent porphyria (AIP) is an inherited metabolic disorder associated with complications including kidney failure and hepatocellular carcinoma, probably caused by elevations in the porphyrin precursors porphobilinogen (PBG) and delta-aminolevulinic acid (ALA). This study explored differences in modern biomarkers for renal and hepatic damage between AIP patients and controls. Urine PBG testing, kidney injury panels, and liver injury panels, including both routine and modern biomarkers, were performed on plasma and urine samples from AIP cases and matched controls (50 and 48 matched pairs, respectively). Regarding the participants' plasma, the AIP cases had elevated kidney injury marker-1 (KIM-1,
    Language English
    Publishing date 2023-12-21
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662250-6
    ISSN 2075-1729
    ISSN 2075-1729
    DOI 10.3390/life14010019
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  7. Article ; Online: Observational pilot study of multi-wavelength wearable light dosimetry for erythropoietic protoporphyria.

    Dickey, Amy K / Berkovich, Jaime / Leaf, Rebecca K / Jiang, Paul Y / Lopez-Galmiche, Gisela / Rebeiz, Lina / Wheeden, Kristen / Kochevar, Irene / Savage, William / Zhao, Sophia / Campisi, Elizabeth / Heo, Seung Y / Trueb, Jacob / LaRochelle, Ethan P M / Rogers, John / Banks, Anthony / Chang, Jan-Kai

    International journal of dermatology

    2024  

    Abstract: Background: Erythropoietic protoporphyria (EPP) causes painful light sensitivity, limiting quality of life. Our objective was to develop and validate a wearable light exposure device and correlate measurements with light sensitivity in EPP to predict ... ...

    Abstract Background: Erythropoietic protoporphyria (EPP) causes painful light sensitivity, limiting quality of life. Our objective was to develop and validate a wearable light exposure device and correlate measurements with light sensitivity in EPP to predict and prevent symptoms.
    Methods: A wearable light dosimeter was developed to capture light doses of UVA, blue, and red wavelengths. A prospective observational pilot study was performed in which five EPP patients wore two light dosimeters for 3 weeks, one as a watch, and one as a shirt clip.
    Results: Standard deviation (SD) increases from the mean in the daily blue light dose increased the odds ratio (OR) for symptom risk more than the self-reported outdoor time (OR 2.76 vs. 2.38) or other wavelengths, and a one SD increase from the mean in the daily blue light wristband device dose increased the OR for symptom risk more than the daily blue light shirt clip (OR 2.45 vs. 1.62). The area under the receiver operator curve for the blue light wristband dose was 0.78, suggesting 78% predictive accuracy.
    Conclusion: These data demonstrate that wearable blue light dosimetry worn as a wristband is a promising method for measuring light exposure and predicting and preventing symptoms in EPP.
    Language English
    Publishing date 2024-04-11
    Publishing country England
    Document type Journal Article
    ZDB-ID 412254-9
    ISSN 1365-4632 ; 0011-9059 ; 1461-1244
    ISSN (online) 1365-4632
    ISSN 0011-9059 ; 1461-1244
    DOI 10.1111/ijd.17166
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  8. Article ; Online: Tobacco smoke exposure recruits inflammatory airspace monocytes that establish permissive lung niches for

    Corleis, Björn / Tzouanas, Constantine N / Wadsworth, Marc H / Cho, Josalyn L / Linder, Alice H / Schiff, Abigail E / Zessin, Björn / Stei, Fabian / Dorhoi, Anca / Dickey, Amy K / Medoff, Benjamin D / Shalek, Alex K / Kwon, Douglas S

    Science translational medicine

    2023  Volume 15, Issue 725, Page(s) eadg3451

    Abstract: Tobacco smoking doubles the risk of active tuberculosis (TB) and accounts for up to 20% of all active TB cases globally. How smoking promotes lung microenvironments permissive ... ...

    Abstract Tobacco smoking doubles the risk of active tuberculosis (TB) and accounts for up to 20% of all active TB cases globally. How smoking promotes lung microenvironments permissive to
    MeSH term(s) Humans ; Monocytes ; Mycobacterium tuberculosis ; Tobacco Smoke Pollution ; Macrophages/microbiology ; Tuberculosis/microbiology ; Lung
    Chemical Substances Tobacco Smoke Pollution
    Language English
    Publishing date 2023-12-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2518854-9
    ISSN 1946-6242 ; 1946-6234
    ISSN (online) 1946-6242
    ISSN 1946-6234
    DOI 10.1126/scitranslmed.adg3451
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  9. Article ; Online: Light-Related Cutaneous Symptoms of Erythropoietic Protoporphyria and Associations With Light Sensitivity Measurements.

    Raef, Haya S / Rebeiz, Lina / Leaf, Rebecca Karp / Hughes, Olivia / Jiang, Paul / ElSeht, Abrahim / Anderson, Karl E / Wheeden, Kristen / Kochevar, Irene / Elmariah, Sarina B / Dickey, Amy K

    JAMA dermatology

    2023  Volume 159, Issue 2, Page(s) 204–208

    Abstract: Importance: Erythropoietic protoporphyria (EPP) is a rare and underdiagnosed genetic disease characterized by painful sensitivity to light. A better understanding and characterization of its light-induced cutaneous symptoms may aid in the identification ...

    Abstract Importance: Erythropoietic protoporphyria (EPP) is a rare and underdiagnosed genetic disease characterized by painful sensitivity to light. A better understanding and characterization of its light-induced cutaneous symptoms may aid in the identification of EPP in patients.
    Objectives: To describe the cutaneous symptoms of erythropoietic protoporphyria (EPP) and to determine if these symptoms are associated with the degree of light sensitivity.
    Design, setting, and participants: This was a cross-sectional study of adolescent and adult (≥15 years) patients with EPP across the US conducted by a single academic hospital via a remotely administered survey, measurements of light sensitivity by light dosimetry and by text message symptom assessments. Data analyses were conducted from November 2020 to April 2022.
    Exposures: Sunlight exposure.
    Main outcomes and measures: Self-reported symptoms and association with measured light sensitivity.
    Results: The study sample consisted of 35 patients with EPP (mean [SD] age, 39.1 (15.5) years; 21 [60%] female; 14 [40%] male; 35 [100%] White individuals). The patients' median [range] skin tone was 3.0 (1.0-8.0), based on self-reporting from 1 (lightest) to 12 (darkest). A total of 24 participants completed the light dosimeter measurements. Phototoxic reactions were characterized by pain (97%; 34 patients), burning (97%; 34), tingling (97%; 34), pruritus (83%; 29), allodynia (89%; 31), improvement of symptoms with cold (89%; 31), achiness (24%; 12), fatigue (46%; 16), mild swelling (83%; 29), severe swelling (63%; 22), erythema (51%; 18), petechiae (40%; 14), skin cracking (43%; 15), scabbing (46%; 16), scarring (66%; 23), and other chronic skin changes (40%; 14). Patients with EPP reported that their hands, feet, and face were most sensitive to light and that their shoulders and legs were least sensitive; 25.7% (9 patient) reported no chronic skin changes, and 5.7% (2 patients) reported never having had any visible symptoms. None of these findings varied with the degree of light sensitivity except that lower overall light sensitivity was associated with lower ranked sensitivity of the neck and arms.
    Conclusions and relevance: The findings of this cross-sectional study suggest that patients with EPP have distinctive cutaneous symptoms that may aid in identification of this underdiagnosed disease. Characteristic EPP symptoms include light-induced cutaneous burning pain and occasional swelling, particularly over the hands, with a prodrome of pruritus and paresthesias. Minimal skin changes or the absence of visible skin changes during reactions to light, including lack of erythema, do not exclude an EPP diagnosis nor suggest low EPP disease burden.
    MeSH term(s) Adult ; Adolescent ; Humans ; Male ; Female ; Protoporphyria, Erythropoietic/complications ; Protoporphyria, Erythropoietic/diagnosis ; Photophobia ; Cross-Sectional Studies ; Erythema ; Pruritus ; Paresthesia
    Language English
    Publishing date 2023-01-11
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 2701761-8
    ISSN 2168-6084 ; 2168-6068
    ISSN (online) 2168-6084
    ISSN 2168-6068
    DOI 10.1001/jamadermatol.2022.5850
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  10. Article ; Online: Case 38-2021: A 76-Year-Old Woman with Abdominal Pain, Weight Loss, and Memory Impairment.

    Willett, Lisa L / Bromberg, Gabrielle K / Chung, Ryan / Leaf, Rebecca K / Goldman, Rose H / Dickey, Amy K

    The New England journal of medicine

    2021  Volume 385, Issue 25, Page(s) 2378–2388

    MeSH term(s) Abdominal Pain/etiology ; Aged ; Anemia/etiology ; Anorexia/etiology ; Chelation Therapy ; Diagnosis, Differential ; Diet, Ketogenic/adverse effects ; Female ; Humans ; Lead/blood ; Lead Poisoning/complications ; Lead Poisoning/diagnosis ; Lead Poisoning/metabolism ; Lead Poisoning/therapy ; Malnutrition/diagnosis ; Medicine, Ayurvedic/adverse effects ; Memory Disorders/etiology ; Porphyria, Acute Intermittent/diagnosis ; Porphyria, Acute Intermittent/metabolism ; Porphyrias/diagnosis ; Suicidal Ideation ; Tomography, X-Ray Computed ; Weight Loss
    Chemical Substances Lead (2P299V784P)
    Language English
    Publishing date 2021-12-15
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMcpc2107354
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