Type I (sporadic) porphyria cutanea tarda in a hemodialysis patient: A case report

Tarwater, Kurt; Misra, Shamita; Misra, Madhukar

doi:10.1111/j.1542-4758.2008.00323.x

Cited by 6 publications

(5 citation statements)

References 6 publications

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“…The risk factors for PCT include normal or increased amounts of hepatic iron (e.g. in hereditary hemochromatosis), hepatitis C infection, alcohol abuse, estrogen use, HIV, smoking, chlorinated polycyclic aromatic hydrocarbons, and hemodialysis [4]. PCT can be divided into 2 types: type 1 PCT (sporadic; no UROD mutation) and type 2 PCT (familial PCT, caused by heterozygosity for a UROD mutation), which are clinical indistinguishable from each other.…”

Section: Introductionmentioning

confidence: 99%

Hepatitis C- and HIV-induced porphyria cutanea tarda

et al. 2014

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Patient: Male, 47Final Diagnosis: Porphyria cutanea tardaSymptoms: Chills • cough dry • thumb swellingMedication: —Clinical Procedure: —Specialty: Metabolic Disorders and DiabeticsObjective:Challenging differential diagnosisBackground:Porphyria cutanea tarda (PCT) is the most common type of the porphyria. It occurs due to the deficiency of enzyme uroporphyrinogen decarboxylase (UROD), which is the fifth enzyme in the biosynthesis of heme and catalyzes the conversion of uroporphyrinogen to coproporphyrinogen. The risk factors for PCT include hereditary hemochromatosis, hepatitis C infection, ethanol abuse, estrogen use, HIV, smoking, chlorinated polycyclic aromatic hydrocarbons, and hemodialysis.Case Report:A 47-year-old Hispanic man presented with right thumb swelling, redness, and pain for approximately 1 week. Past medical history included HIV/AIDS, hepatitis C infection, alcohol abuse, heroin abuse, and CMV retinitis. Skin examination revealed blistering and hypo/hyper pigmented lesions over the dorsal aspects of the hands and other sun-exposed areas. Serum porphyrins were discovered to be elevated. The quantitative urine porphyrins revealed elevation of uroporphyrins, heptacarboxyl-porphyrins, hexacarboxy-porphyrins, pentacarboxyl-porphyrins and coproporphyrin. Genetic mutation of UROD was not detected. Due to the classic cutaneous lesions, laboratory findings, and associated risk factors, we were able to confirm our suspicion of the sporadic (type 1) form of PCT.Conclusions:A strong correlation has been demonstrated between the sporadic (type 1) form of PCT and hepatitis C virus (HCV) infection in multiple studies. The mechanism through which HCV infection may cause or trigger PCT is unknown. PCT has been described for many years, but still eludes the differential diagnosis in a patient with cutaneous findings. The uniqueness of our case is the possibility that combined risk factors have an effect on PCT.

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Section: Introductionmentioning

confidence: 99%

Hepatitis C- and HIV-induced porphyria cutanea tarda

et al. 2014

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“…A variety of risk factors can contribute to PCT, some of which include alcohol use, smoking, estrogens, iron overload, chemical materials such as polychlorinated hydrocarbons, viral infections such as hepatitis C and human immunodeficiency virus, mutations of the HFE gene associated with hemochromatosis (Handler, Handler, Stephany, Handler, & Schwartz, ; Ramanujam & Anderson, ; Tarwater, Misra, & Misra, ). There are several suggested mechanisms of the role of alcohol and hepatitis C in PCT.…”

Section: Discussionmentioning

confidence: 99%

A first report of porphyria cutanea tarda successfully treated with glycyrrhizin

Han³

et al. 2019

Dermatologic Therapy

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Porphyria cutanea tarda (PCT) is a condition that affects liver and skin by reduction of hepatic uroporphyrinogen decarboxylase activity. It is characterized by blistering lesions, erosions and crusts on sun‐exposed areas. We report a 51‐year‐old male presenting with recurrent episodes of bullae, erosions, and crust on his neck and dorsum of the hands for 3 months. Aspartate aminotransferase, alanine aminotransferase, gamma‐glutamyl transferase, alkaline phosphatase, lactate dehydrogenase levels, as well as total plasma porphyrin and urinary uroporphyrin levels were elevated. Based on the clinical manifestations, the history and laboratory findings, a diagnosis of PCT was made. The cutaneous and biochemical abnormalities of the patient improved with therapy of glycyrrhizin.

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“…LVPE temporarily reduced the plasma porphyrin level and prevented vesicle formation in that patient. 46 LDL cholesterol apheresis is used to treat patients with familial hypercholesterolemia, and low volume plasmapheresis for plasma donation may similarly lower cholesterol levels in some donors. In a prospective multicenter study, researchers investigated the effect of voluntary plasmapheresis on plasma cholesterol levels in 663 donors in which a blood sample was obtained for analysis before each donation.…”

Section: Metabolic Conditionsmentioning

confidence: 99%

Conventional Therapeutic Plasma Exchange Versus Low Volume Plasma Exchange in Chronic Pathologies: Potential Benefit in Alzheimer’s Disease

Escolar,

Páez,

Cid

2022

Clin Med�Insights�Blood�Disord

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Conventional therapeutic plasma exchange (TPE) is aimed at removing pathological agents from circulation using a medical device which separates out plasma from other components of blood. Usually, 1.0 to 1.5 plasma volumes are removed and replaced with a replacement solution. There is strong clinical evidence for the effectiveness of TPE in a wide spectrum of diseases, such as thrombotic thrombocytopenic purpura, severe acute inflammatory demyelinating polyneuropathy, and Guillain-Barré syndrome, among others. However, therapeutic approaches using lower plasma exchange volumes (LVPE) suggest some degree of effectiveness in a number of pathological conditions, although generally with low level of clinical evidence: hematology disorders (autoimmune hemolytic anemia), neuroimmunological diseases (Guillain-Barré syndrome, neuromyelitis optica, myasthenia gravis, multiple sclerosis), pulmonary disorders, liver failure, dermatology (pemphigus) and metabolic diseases (porphyria, cholesterol). Further or newer studies are needed to confirm LVPE as an alternative to TPE for such groups of pathologies. While plasma volume removed for TPE ranges 3-4.5 L per procedure, for LVPE ranges from 350 mL to 2 L (frequency and duration vary depending on the pathology treated). In the case of Alzheimer‘s disease (AD), the AMBAR trial recently investigated a combined sequence of intensive TPE with human albumin replacement followed by a maintenance phase LVPE (650-880 mL of plasma removed, similar to a plasma donation). The treatment slowed the decline or stabilized the disease symptoms. The AMBAR approach could justify investigating the use of LVPE in chronic conditions where plasma exchange strategies have proven successful.

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Type I (sporadic) porphyria cutanea tarda in a hemodialysis patient: A case report

Cited by 6 publications

References 6 publications

Hepatitis C- and HIV-induced porphyria cutanea tarda

Hepatitis C- and HIV-induced porphyria cutanea tarda

A first report of porphyria cutanea tarda successfully treated with glycyrrhizin

Conventional Therapeutic Plasma Exchange Versus Low Volume Plasma Exchange in Chronic Pathologies: Potential Benefit in Alzheimer’s Disease

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