Chronic Porphyria Research Articles

Oral Rehabilitation of a Patient with Congenital Erythropoietic Porphyria: A Rare Case Report Porphyria: A Rare Case Report

Congenital erythropoietic porphyria (CEP) is an extremely rare disorder involved in chronic porphyrias. One of the recommended evaluations to determine disease severity and needs of a person with CEP is dental assessment. Objective: To present a case of CEP and its oral rehabilitation. Case Report: A 32-year-old female patient was admitted to the clinic with hyperkeratinization, skin fragility, fissures, and wounds in her perioral region and hands. Intraoral gingival bleeding, mucogingival stress, and missing teeth were recorded. After medical consultation, phase I and II periodontal therapies were performed. The patient expressed satisfaction of the results of the procedures in terms of the parameters evaluated. The rare occurrence of the disease may delay the diagnosis. An unmet need still exists for multidisciplinary orientation of patients with CEP. Conclusion: Dentists should have and follow guidelines for treating patients with CEP.

Porphyria Cutanea Tarda – a Case Report

Abstract Porphyria cutanea tarda is a metabolic disorder that results from a reduced enzymatic activity of uroporphyrinogen decarboxylase. It is the commonest chronic porphyria. Two types of this disease have been reported up to now: acquired (Type 1, 80%) and inherited (Type 2, 20%) an autosomal dominant pattern with low clinical penetrance. Both types are associated with haemochromatosis, alcohol abuse, estrogens, iron overload, hepatitis C virus infection, and halogenated aromatic hydrocarbons causing deficiency of the uroporphyrinogen decarboxylase enzyme in the liver. In this case report we described a 23-year-old woman with increased hair growth on the face and neck, who visited an outpatient dermatology clinic for laser hair removal due to excessive hair growth on the face and neck during the last eight years (Figures 1, 2). Four laser treatments were carried out with incomplete effects. After the fourth laser hair removal treatment, a small sore on the tip of the nose was observed. The patient used oral contraceptive pills during the past 8 months. No additional medications were taken. The diagnosis of porphyria cutanea tarda was confirmed by specific biochemical analyses, since increased excretion of uroporphyrin and coproporphyrin were detected. After discontinuation of drospirenone and ethinyl estradiol (YazÒ tablets) a gradual clinical and laboratory improvement was noticed suggesting a causative role of this drug. There are many published reports discussing and describing estrogens as contraceptive agents, hormone supplements for postmenopausal replacement therapy in females, and adjunctive hormonal therapy in males with prostatic carcinoma, being the probable trigger of porphyria cutanea tarda. However, the mechanisms by which estrogens exert their effects on disease expression have not yet been fully clarified. Conclusion: this case report points to the importance of hypertrichosis as the first manifestation of porphyria cutanea tarda, since it may be a long lasting sign before the onset of other clinical symptoms of the disese

Results of a pilot external quality assessment study on free protoporphyrin in erythrocytes

Quantification of erythrocyte protoporphyrins (ePP) is essential to establish the diagnosis of erythropoietic protoporphyria, a form of chronic porphyria that is not very rare (prevalence roughly 1:50,000), and clinically characterized by painful phototoxic skin reactions that usually start in early childhood (1, 2), and X-linked dominant protoporphyria, a recently (2008) described metabolic disorder with similar clinical features (3). While PP with zinc chelated as the central ion (zinc PP) is increased in iron deficiency anemia and inefficient erythropoesis, substantial increases ()50-fold) in metal-free ePP is pathognomonic for protoporphyria. Erythrocyte protoporphyrins are measured using various methods, and standardisation of analytic procedures has not been addressed at present. In order to assess the comparability of free ePP results obtained in clinical samples using different analytical methods, we performed an inter-laboratory comparison study (4). In this trial, lyophilized aliquots of three samples (A–C) were shipped to the participating laboratories. The samples were based on washed red blood cells which were lysed by repeated freeze-thaw-cycles prior to dispensing and lyophilization. Sample B was obtained from an adult male patient suffering from protoporphyria; sample C was from a healthy volunteer; and sample A was a 1q1 mix of samples B and C. Six laboratories from Europe, North-America and Asia-performing ePP quantification routinely, contributed results,

Congenital Erythropoietic Porphyria Due to Co-Inheritance of GATA1 and UROS Gene Mutations

AbstractAbstract 3208The Congenital Erythropoietic Porphyria (CEP) is a rare form of Chronic Porphyria characterized by severe photosensivity. Secondary infections of cutaneous lesions may lead to scarring, deformities and disfigurement of the light-exposed parts of the body such as hands, ears, nose, and eyelids. Erythrodontia, osteodystrophia, combining osteolysis and osteoporosis, hypercellular bone marrow, hemolytic anemia, hypersplenism, splenomegaly and red-coloured urine are present in almost all patients. Generally, CEP is an autosomic recessive disease caused by mutations in homozygosis or compound heterozygosis in UROS gene coding for the fourth enzyme of the heme biosynthesis pathway. At present a new form of CEP with an X-linked inheritance associated with R216W mutation in the GATA 1 gene has been described only in one French-English family by Philips JD et al. GATA1 is a key zinc finger transcription factor that coordinates hematopoietic cell differentiation. We described a Turkish family where a severe CEP phenotype segregates with thalassemia and thrombocytopenia. The propositus is an 4 year old boy who presented photosensitive bullous dermatosis, splenomegaly, short stature and pallor. His mother was chronically anemic (Hb 10.9 g/dL) and thrombocytopenic (96×109/L) known as chronic immune thrombocytopenic purpura, whereas the father and the brother were asymptomatic. At birth, the boy had hypochromic, microcytic anemia, thrombocytopenia and thrombasthenia. Reticulocyte counts slightly increased. At 2 months he was transfused, splenomegaly and heart murmur were detected on physical examination. At this point his Hb level was 6,9 g/dl, WBC 7,400×109/L, platelets 64–106×109/L, MCV 70 flL, RDW 28%. The patient's peripheral-blood smear revealed microcytic, hypochromic red cells, target cells, basophilic stippling, and rare nucleated red cells, findings compatible with thalassemia but DNA analysis for beta and alpha thalassemia was normal. A bone marrow aspirate revealed a hypercellular marrow and erythroid hyperplasia. Dyserythropoiesis was noted with nuclear budding, nuclear bridging, and occasional multinucleation. Megakaryocytes were decreased in number, Hb electrophoresis revealed increased levels of fetal hemoglobin (HbA2 2%; Hb F 68%). At 3 years liver MRI detected iron overload. Ferritin level was 329ng/dL. Because of some skin lesions on his body he was then tested with urine and plasma analysis and the results were consistent with the diagnosis of congenital erythropoietic porphyria. Urine total porphyrins were 5414 nmol/mmol creatinin (N<35) with an excess of isomer I of both Uroporphyrins and Coproporhyrins. Total plasma porhyrins were 312 nmol/L (N<10). We analyzed the UROS gene and we identified a new mutation c.338A>T (D113V) in heterozygosis in the propositus, in his father and in his brother. On the basis of hematological status we decided to analyze also GATA1 gene and the mutation c.646C>T (R216W) has been detected in the child and on one allele of his mother who presents a balanced pattern of X-inactivation. The patient is similar to the case of association of CEP with an hematologic phenotype of beta-thalassemia intermedia. Markedly elevated Hb F levels, and thrombocytopenia result from mutations in the transacting factor GATA-1 presented by Philips JD et al. This patient additionally has a severe liver iron overload. A newborn sibling died at birth because of sepsis and neonatal hepatitis. Liver iron overload was also detected in the sibling's autopsy. All components of family were heterozygous for the H63D mutation in HFE gene but no other HAMP, HJV and SLC40A1 mutations were found. The patient started a regular transfusion program and Deferasirox was given for hemosiderosis after Desferroxamine uncompliance. This is the first report of the association of GATA1 and UROS gene mutations that could explain the very severe hematological phenotype. Disclosures:No relevant conflicts of interest to declare.

The diagnosis and management of porphyria cutanea tarda (PCT)

AbstractThe porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway. The porphyrias are classified into acute and chronic. The acute porphyrias are acute intermittent porphyria (AIP), porphyria variegata (PV) and hereditary coproporphyria (HCP). The chronic porphyrias are porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP) and congenital erythropoietic porphyria (CEP). They are further classified as hepatic or erythropoietic, depending on the major site of abnormal metabolism. This article is about PCT, which is more common in South Africa than the other porphyrias and is classified as chronic and hepatic.

Melatonin Formation in Pineal Gland from Rats with Hexachlorobenzene Experimental Porphyria

Hexachlorobenzene produces an experimental hepatic porphyria in rats, which is similar to human porphyria cutanea tarda, with hyperpigmentation as one of its characteristic features. Alterations in tryptophan metabolism have been previously observed in this chronic porphyria. Melatonin formation from tryptophan via serotonin shows diurnal rhythmicity in the pineal gland, and higher values are observed during the dark phase of an imposed light-dark cycle. The purpose of this study was to determine the contents of tryptophan and its metabolites in pineal gland of normal and hexachlorobenzene-treated rats in order to find alterations potentially related to porphyria cutanea tarda. Results show that in animals with this experimental porphyria some tryptophan metabolite levels (serotonin and 5-hydroxyindoleacetic acid) increase only during the light period, whereas tryptophan content remained equal to the controls. Hydroxyindole-O-methyltransferase activity also increases by light in pineal gland from hexachlorobenzene-treated rats. On the other hand, tryptophan is converted to melatonin in the dark period, but this route is not exacerbated in hexachlorobenzene porphyria. The relevance of these alterations is discussed in relation to hyperpigmentation, neoplastic and oxidative stress processes associated with this porphyria.

Polymorphous light eruption, chronic actinic dermatitis, solar urticaria and porphyria cutanea tarda

Photodermatoses can be divided into four general categories: immunologically mediated photodermatoses, drug- and chemical-induced photosensitivity, DNA repaired deficient photodermatoses and photoaggravated dermatoses. In this review, selected photodermomatoses will be discussed: polymorphous light eruption, chronic actinic dermatitis, solar urticaria and porphyria cutanea tarda. The frequency of photodermatoses has been reported from studies assessing patients in photodermatology referral centers in different parts of the world. All studies consistently showed that polymorphous light eruption is the most common primary photodermatosis, ranging in frequency from 23 to 65% of the patients referred to those centers for evaluation. Other commonly seen primary photodermatoses include solar urticaria and chronic actinic dermatitis. In studies reported from Singapore and Melbourne, Australia, photoaggravation of skin diseases was also seen commonly, probably owing to the high level of sun exposure experienced b...

Pro-oxidant and antioxidant factors in acute intermittent porphyria: family studies.

Given the crucial role of iron and porphyrins in oxidative cellular damage in the chronic porphyrias, we undertook an extensive study in families with acute porphyrias to evaluate the possible role of similar oxidative damage in these diseases, whose natural history is often also complicated by neoplastic evolution. Four unrelated patients with acute intermittent porphyria (AIP) were studied together with 37 members of four different families. Aminolevulinic acid and porphobilinogen were measured in urine, and porphyrins in urine, plasma and stools. The activity of the congenitally deficient enzyme, porphobilinogen deaminase, and the concentrations of plasma iron, transferrin, ferritin, and various antioxidants (ascorbic acid, retinol, tocopherol, alpha- and beta-carotene, by a personal HPLC method) and the urinary and plasma metabolites of nitrous oxide were also assayed. The results showed no relationship between the observed increase of porphyrin metabolites and the presence of markers of oxidative damage or the decrease of circulating antioxidants: however, when such a decrease was registered, it depended on spontaneous or iatrogenic iron accumulation. We conclude that family screening, recommended for the identification of AIP carriers, must also include evaluation of iron stores with a view to preventing the oxidative damage and in order to forestall the neoplastic evolution of the disease.

HCV type 1b in patients with chronic liver diseases and porphyria cutanea tarda (PCT)

HCV type 1b in patients with chronic liver diseases and porphyria cutanea tarda (PCT)

Plasma Porphyrins in Chronic Renal Failure

Using a quantitative sensitive HPLC fluorometric assay for the measurement of plasma and urine porphyrins, we have calculated the renal clearance of uro- and coproporphyrin in normal volunteers and in patients with congenital erythropoietic porphyria and hereditary coproporphyria (HCP). In patients with porphyria cutanea tarda (PCT), only uroporphyrin clearance was calculated. Plasma porphyrin concentrations were measured in patients with chronic renal failure (CRF). All our CRF patients on haemodialysis (10) had raised plasma uroporphyrin, 4 had raised plasma heptacarboxyporphyrins and 2 had raised plasma coproporphyrin, unchanged by haemodialysis. CRF patients with raised uroporphyrins and 7-carboxyporphyrins could be distinguished from PCT in patients with normal renal function, by their higher uro/7-carboxyporphyrin ratio (8.0 vs. 1.7). Renal clearance of coproporphyrin was much greater in HCP than in any of the other groups studied. Since coproporphyrin clearance was less than creatinine clearance in most normal subjects, and because 2 patients with CRF had raised plasma coproporphyrin concentrations, we argue that the kidney is probably not a major source of coproporphyrin, as previously reported. Furthermore, the variability and degree of abnormality in plasma porphyrins in CRF would suggest caution in diagnosing chronic porphyria in patients with renal impairment.

Chelation Therapy of Hexachlorobenzene Induced Chronic Porphyria.

Excerpt In 1958, Dr. C. Cam of Diyarbakir, Turkey, first reported on cases of chronic hepatic porphyria in Turkish patients that was traced to the consumption of wheat as food that had been prepare...

A review of the relationship between pregnancy and porphyria and presentation of a case.

Case Reports1 October 1957A REVIEW OF THE RELATIONSHIP BETWEEN PREGNANCY AND PORPHYRIA AND PRESENTATION OF A CASESHERWOOD VINE, M.D., HORACE M. SHAFFER, M.D., GORDON PAULEY, M.D., ELLIOTT J. MARGOLIS, M.D.SHERWOOD VINE, M.D.Search for more papers by this author, HORACE M. SHAFFER, M.D.Search for more papers by this author, GORDON PAULEY, M.D.Search for more papers by this author, ELLIOTT J. MARGOLIS, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-47-4-834 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThere have been a number of scattered reports of pregnancy in porphyric women and the various problems which attend this condition. To our knowledge, there has been no review of these experiences which would serve as a touchstone to others who encounter such gestation.Porphyria is more commonly thought of and detected today in clinical medicine. Complicating circumstances such as pregnancy will be seen more frequently. Problems arise in its management which cannot be solved solely on a physiologic basis, since the nature of the interplay between the fetal and maternal factors is unknown. Although the intricacies of porphyrin metabolism...Bibliography1. KehoeNewmanChandler ELSBF: Acute porphyria, U. S. Armed Forces M. J. 4: 1119-1127 (Aug.) 1953. MedlineGoogle Scholar2. Nesbitt S: Acute porphyria, J. A. M. A. 124: 286-294 (Jan. 29) 1944. CrossrefGoogle Scholar3. Dean G: Porphyria, Brit. M. J. 2: 1291-1294 (Dec. 12) 1953. CrossrefMedlineGoogle Scholar4. Grubschmidt HA: A case of acute porphyria: remissions induced with procaine intravenously, California Med. 72: 243-245 (Apr.) 1950. MedlineGoogle Scholar5. LinasSolomonFigge SMLFH: Chronic porphyria complicated by pregnancy, J. A. M. A. 133: 105-107 (Jan. 11) 1947. CrossrefMedlineGoogle Scholar6. Coleman RR: Acute porphyria, J. South Carolina M. A. 44: 117-121 (Apr.) 1948. MedlineGoogle Scholar7. LittlePalmer NH: Acute porphyria, New Zealand M. J. 47: 461-471 (Oct.) 1948. MedlineGoogle Scholar8. ReidenbergFarber LHI: Acute intermittent porphyria complicated by pregnancy, Am. J. Obst. and Gynec. 69: 879-881 (Apr.) 1955. CrossrefMedlineGoogle Scholar9. Markovitz M: Acute intermittent porphyria: a report of five cases and a review of the literature, Ann. Int. Med. 41: 1170-1186 (Dec.) 1954. LinkGoogle Scholar10. O'Dwyer JP: Acute idiopathic porphyria complicating pregnancy, J. Obst. and Gynaec. Brit. Emp. 62: 437-440 (June) 1955. CrossrefMedlineGoogle Scholar11. FreedmanYeagleyBrooks AJDJB: Acute porphyria with improvement during and following pregnancy, Ann. Int. Med. 36: 1111 (Apr.) 1952. LinkGoogle Scholar12. Rawlings EE: Porphyria and pregnancy, Brit. M. J. 1: 549-550 (Mar. 4) 1950. CrossrefGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Levittown, Pennsylvania*Received for publication May 9, 1956.From the Lower Bucks County Hospital, Bristol, Pennsylvania.Requests for reprints should be addressed to Sherwood Vine, M.D., 49 Pinewood Drive, Levittown, Pennsylvania. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byTreatment with assisted reproduction technologies in women with acute hepatic porphyriaPeripheral Neuropathy in PregnancyNeurological disorders and pregnancyWill elevated levels of lead exposure precipitate clinical symptoms of porphyria in individuals with the latent condition?Hereditary Hepatic Porphyrias in FinlandACUTE INTERMITTENT PORPHYRIA AND PREGNANCYTransplacentally acquired erythrodontiaKlinische und pathologisch-anatomische Kennzeichen der akuten intermittierenden PorphyrieLECTURE I: THE PORPHYRINOPATHIESPSYCHIATRIC ASPECTS OF ACUTE PORPHYRIARETICULOCYTOSIS INDUCED BY β-METHYL ASPARTATEACUTE INTERMITTENT PORPHYRIA 1 October 1957Volume 47, Issue 4Page: 834-840KeywordsPorphyriaPorphyrinsPregnancy ePublished: 1 December 2008 Issue Published: 1 October 1957 PDF downloadLoading ...

Porphyria cutanea tarda; report of case successfully treated with chloroquine.

Porphyria cutanea tarda, or chronic porphyria, is a rare disease, in which there is vesicle formation on parts exposed to the sun, especially the face and hands. Its successful treatment has not previously been reported, even with the use of the steroid hormones, dimercaprol (BAL), 1 folic acid, vitamin B 12 , or riboflavin. 2 Chloroquine has been used more or less successfully in the treatment of chronic discoid lupus erythematosus, 3 solar dermatitis, and hydroa estivale, 4 all considered to be related to sunlight sensitivity. Because of the definite relationship of bulla and vesicle formation, following exposure to the sun, in a patient with chronic porphyria, chloroquine has been tried and found to clear the lesions completely in a short time. The case report of this patient follows: A 47-year-old white man came in on Feb. 2, 1955, with a history of an eczematoid blistering eruption on

Paroxysmal nocturnal porphyrinuria; heretofore undescribed manifestation of chronic porphyria.

PORPHYRIA is a relatively uncommon metabolic disorder that has engaged the interest of many investigators. The protean manifestations have led to a classification of the various types as seen in clinical practice.1 , 2 We have recently observed a form of chronic porphyria characterized by the paroxysmal nocturnal nature of the porphyrinuria. Observations on the possible mechanism of these findings are presented along with the clinical and biochemical determinations. Case Report R.G., a 43-year-old Negro, was admitted to the Nazareth Hospital on July 17, 1955, because of the voiding of bloody urine in the morning on arising. He had noticed this for . . .

Experimental Therapy of Chronic Porphyria with Vitamin B12

Porphyria, although a relatively rare disease, has since the description of the original case by Fischer and co-workers (1) continued to attract interest. This is due undoubtedly to the very nature of the disease with its bizarre biochemical changes and varied clinical pictures. Porphyria is characterized clinically by the excretion of uroporphyrin in large amounts in the urine and feces along with increased amounts of coproporphyrin. The uroporphyrin may vary in its chemical form but its presence is essential for a diagnosis of porphyria.

Adult form of chronic porphyria with cutaneous manifestations; report of seventeen additional cases.

The symptoms and laboratory features of chronic or intermediate porphyria may be similar to those of either the acute or the congenital forms, although the course is milder, as a rule. A blistering reaction of the exposed skin of adults, especially on the dorsa of the hands, in response to light, heat, or minor trauma is usually the first manifestation of this disease. The complexion assumes a dusky, bluish-red hue; the conjunctivae are injected, and hypertrichosis may occur. Other symptoms of a vague nature relating to the gastrointestinal system may occur, or nervous and mental disorders may develop. A familial incidence has been noted. The factors which may contribute to the development of the manifest phase of porphyria are not well understood. In so-called acute idiopathic porphyria the barbiturates have long been incriminated. In chronic porphyria a damaging influence on the liver, either by disease, such as cirrhosis, syphilis, diabetes,

CHRONIC PORPHYRIA COMPLICATED BY PREGNANCY

Since there does not appear to be a case of chronic porphyria complicated by pregnancy reported in the literature, it was felt advisable to report a case which has recently been under our care. A preliminary report of this case was made by Taylor, Solomon, Weiland and Figge.1 REPORT OF CASE History.— A white, married woman, aged 20, a native of Baltimore, was hospitalized several months prior to her pregnancy. At that time the diagnosis of chronic porphyria was definitely established. A full report on the history, physical examination, hospital course and progress of this patient appears in the previously cited article. She was advised against becoming pregnant because of the unknown influence that pregnancy might have on the prognosis of the porphyria and because some types of porphyria appear to be inheritable. However, she apparently disregarded the advice, and in June 1945 she presented herself, at which time

CHRONIC PORPHYRIA COMPLICATED BY PREGNANCY

Since there does not appear to be a case of chronic porphyria complicated by pregnancy reported in the literature, it was felt advisable to report a case which has recently been under our care. A preliminary report of this case was made by Taylor, Solomon, Weiland and Figge.1 REPORT OF CASE History.— A white, married woman, aged 20, a native of Baltimore, was hospitalized several months prior to her pregnancy. At that time the diagnosis of chronic porphyria was definitely established. A full report on the history, physical examination, hospital course and progress of this patient appears in the previously cited article. She was advised against becoming pregnant because of the unknown influence that pregnancy might have on the prognosis of the porphyria and because some types of porphyria appear to be inheritable. However, she apparently disregarded the advice, and in June 1945 she presented herself, at which time

Simultaneous Excretion of Goproporphyrin I and III in a Case of Chronic Porphyria

In the urine and stool of normal individuals there is a small amount of coproporphyrin I present. In many pathological conditions, however, the amount excreted is considerably increased.1,4 and in some conditions, notably lead poisoning, coproporphyrin III is excreted rather than the normal coproporphyrin I. Although it is probable that both types of porphyrins are produced in various diseases, the predominance of one type has made the isolation of both types difficult. In the case described below both coproporphyrin I and coproporphyrin III could be isolated from the feces of a woman suffering from chronic porphyria. Thus, the simultaneous formation of these 2 isomers is established.The patient in whom this condition occurred was found in the psychiatric ward of the Strong Memorial Hospital. Since exogenous causes, such as lead and drugs, could be excluded, the condition is one of chronic porphyria. The patient was not anemic, did not suffer from abdominal colic and was not photosensitive; there was no e...