The Porphyrias

2010 ◽  
Author(s):  
Karl E Anderson ◽  
Attallah Kappas
Keyword(s):  
Porphyria Cutanea Tarda ◽  
Genetic Defect ◽  
Acute Intermittent Porphyria ◽  
Molecular Defects ◽  
Psychiatric Disturbances ◽  
Clinical Presentations ◽  
Congenital Erythropoietic Porphyria ◽  
Life Threatening ◽  
Substantial Morbidity ◽  
Enzymatic Defect

The porphyrias are uncommon disorders caused by deficiencies in the activities of the enzymes of the heme biosynthetic pathway. The enzymatic defects that cause porphyrias may be either inherited or acquired, and there is significant interplay between the genetic defect and acquired or environmental factors. Acute forms of the porphyrias may be life threatening and may be misdiagnosed because of the nonspecific nature of the clinical presentation (e.g., acute abdominal pain, psychiatric disturbances, and polyneuropathies). The course of the acute forms of disease is characterized by long latent periods interrupted by acute attacks, which are associated with substantial morbidity and mortality. Porphyrias may be classified as neurovisceral or photosensitive, depending on their prominent clinical characteristic, but in some cases of porphyria, both symptoms are present. Alternatively, the porphyrias can be classified as hepatic or erythropoietic, depending on the principal site of expression of the specific enzymatic defect involved, but the expressions overlap in some porphyrias. The neurovisceral porphyrias correspond with the hepatic porphyrias (ie, acute intermittent porphyria [AIP], variegate porphyria [VP], hereditary coproporphyria [HCP], and ALA deficiency porphyria [ADP]); and the photosensitive porphyrias correspond with the erythropoietic porphyrias (i.e., porphyria cutanea tarda [PCT], hepatoerythropoietic porphyria [HEP], erythropoietic protoporphyria [EPP], and congenital erythropoietic porphyria [CEP]). This chapter covers the classification and pathophysiology of porphyrias and the epidemiology, molecular defects and pathophysiology, diagnosis, and treatment of each of the clinical presentations of porphyria. A table lists the drugs that are safe and unsafe for patients with AIP, VP, HCP, and ADP. Figures illustrate the classification and major symptoms of the porphyrias and the corresponding defect in the biosynthesis of heme that causes the disease; the steps in the biosynthesis of heme; and the mechanisms that precipitate symptoms in AIP. This chapter contains 99 references.

The Porphyrias

2016 ◽  
Author(s):  
Karl E Anderson ◽  
Attallah Kappas
Keyword(s):  
Biosynthetic Pathway ◽  
Aminolevulinic Acid ◽  
Clinical Symptoms ◽  
Porphyria Cutanea Tarda ◽  
Acute Intermittent Porphyria ◽  
Genetic Traits ◽  
Molecular Defects ◽  
Clinical Presentations ◽  
Congenital Erythropoietic Porphyria ◽  
Hereditary Coproporphyria

The porphyrias are uncommon disorders caused by deficiencies in the activities of enzymes of the heme biosynthetic pathway. The enzymatic defects that cause porphyrias are inherited, with the exception of porphyria cutanea tarda, which is primarily acquired. In all porphyrias, there is significant interplay between genetic traits and acquired or environmental factors in the expression of clinical symptoms. This review discusses the classification, pathophysiology, and clinical presentations of the porphyrias. These include those associated with neurovisceral attacks (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and δ-aminolevulinic acid dehydratase [alad] deficiency porphyria) and the porphyrias associated with cutaneous photosensitivity (porphyria cutanea tarda, hepatoerythropoietic porphyria, erythropoietic protoporphyria, and congenital erythropoietic porphyria). Specific emphasis on the epidemiology, molecular defects and pathophysiology, clinical features, diagnosis, and treatment are discussed for each of these disorders. A table lists the safe and unsafe drugs for patients with porphyrias. Figures illustrate the genetic pathways of the disorders and the activities of enzymes of the heme biosynthetic pathway. This review contains 2 highly rendered figures, 1 table, and 96 references.

scholarly journals Feigning Acute Intermittent Porphyria

2014 ◽  
Vol 2014 ◽  
pp. 1-4
Author(s):  
Rania Elkhatib ◽  
Modupe Idowu ◽  
Gregory S. Brown ◽  
Yasmeen M. Jaber ◽  
Matthew B. Reid ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
English Language ◽  
Autosomal Dominant ◽  
Psychiatric Symptoms ◽  
Genetic Defect ◽  
Acute Intermittent Porphyria ◽  
Acute Attack ◽  
Neurological Deficits ◽  
Life Threatening ◽  
Language Literature

Acute intermittent porphyria (AIP) is an autosomal dominant genetic defect in heme synthesis. Patients with this illness can have episodic life-threatening attacks characterized by abdominal pain, neurological deficits, and psychiatric symptoms. Feigning this illness has not been reported in the English language literature to date. Here, we report on a patient who presented to the hospital with an acute attack of porphyria requesting opiates. Diligent assessment of extensive prior treatment records revealed thirteen negative tests for AIP.

scholarly journals Enteric Fever Diagnosis: Current Challenges and Future Directions

Pathogens ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 410
Author(s):  
Durga P. Neupane ◽  
Hari P. Dulal ◽  
Jeongmin Song
Keyword(s):  
Diagnostic Tests ◽  
Enteric Fever ◽  
Asymptomatic Carrier ◽  
Diagnostic Methods ◽  
Effective Control ◽  
Future Directions ◽  
Clinical Presentations ◽  
Global Spread ◽  
Life Threatening ◽  
Pros And Cons

Enteric fever is a life-threatening systemic febrile disease caused by Salmonella enterica serovars Typhi and Paratyphi (S. Typhi and S. Paratyphi). Unfortunately, the burden of the disease remains high primarily due to the global spread of various drug-resistant Salmonella strains despite continuous advancement in the field. An accurate diagnosis is critical for effective control of the disease. However, enteric fever diagnosis based on clinical presentations is challenging due to overlapping symptoms with other febrile illnesses that are also prevalent in endemic areas. Current laboratory tests display suboptimal sensitivity and specificity, and no diagnostic methods are available for identifying asymptomatic carriers. Several research programs have employed systemic approaches to identify more specific biomarkers for early detection and asymptomatic carrier detection. This review discusses the pros and cons of currently available diagnostic tests for enteric fever, the advancement of research toward improved diagnostic tests, and the challenges of discovering new ideal biomarkers and tests.

scholarly journals Vertebral Metastasis Treated by Vertebroplasty, a Cause of Respiratory Failure: Case Report and Literature Review

2021 ◽  
pp. 279-283
Author(s):  
Mathieu Chevallier ◽  
Chloé Chevallier-Lugon ◽  
Alex Friedlaender ◽  
Alfredo Addeo
Keyword(s):  
Spinal Fractures ◽  
Safe Procedure ◽  
Vertebral Metastasis ◽  
Minimally Invasive Surgical Procedure ◽  
Venous Circulation ◽  
Minimally Invasive Surgical ◽  
Life Threatening ◽  
Frequent Site ◽  
The Right ◽  
Substantial Morbidity

Bone is a frequent site of metastases in advanced cancers including lung, breast, prostate, kidney, or myeloma. Lesions are commonly located on the spine. Neoplastic invasion of the vertebral body can result in painful vertebral fractures, leading to disability and substantial morbidity. Percutaneous vertebroplasty is a minimally invasive surgical procedure used to treat spinal fractures due to osteolytic tumors. It could result in pain reduction or resolution in 80–90% of patients with fractures, and it improves stability. Although considered safe, vertebroplasty has been associated over the years with life-threatening complications. We have reported the case of a 55-year-old patient with lung adenocarcinoma, who underwent vertebroplasty for a pathological neoplastic fracture of L2. The procedure was complicated by a leak of cement into the systemic venous circulation, characterized by an 11-cm filament in the right heart chambers and multiple pulmonary emboli. To our knowledge, only one similar case was previously reported, involving an intracardiac cement filament longer than 10 cm. The data are scant, hence the importance of collecting and reporting possible complications about what is perceived as a rather safe procedure. The case highlights the need for a robust postprocedure imaging plan to detect complications, which can impact patients’ morbidity and survival.

scholarly journals Acute abdomen in children due to different presentations of complicated Meckel’s diverticulum: a case series

2020 ◽  
Vol 16 (1) ◽  
Author(s):  
Hisham A. Almetaher ◽  
Mohammed Awad Mansour
Keyword(s):  
Congenital Abnormality ◽  
Wedge Resection ◽  
Meckel’S Diverticulum ◽  
Case Series ◽  
Postoperative Outcome ◽  
Meckel's Diverticulum ◽  
Gastrointestinal Disorders ◽  
Clinical Presentations ◽  
Life Threatening ◽  
Small Base

Abstract Background Meckel’s diverticulum (MD) is the commonest congenital abnormality of the gastrointestinal tract that occurs in 2% of general population. It remains asymptomatic, but it may lead to life-threatening complications. These complications may be misdiagnosed with other gastrointestinal disorders like acute appendicitis, making its diagnosis challenging among pediatricians and pediatric surgeons. In this study, we reported five cases with different presentations of complicated MD in children. Results Five patients with different presentations of MD were reported during the period from January 2016 to January 2020. Patients’ demographics, clinical presentations, investigations, operative data, and postoperative outcome were recorded and analyzed. Conclusions The present study highlights different presentations of MD. Surgical interference is the main key of treatment of symptomatic MD either by wedge resection of a small base diverticulum or by resection anastomosis of the small intestine in wide base and inflamed diverticulum.

scholarly journals Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations

2015 ◽  
Vol 172 (6) ◽  
pp. 803-811 ◽  
Author(s):  
Maya B Lodish ◽  
Bo Yuan ◽  
Isaac Levy ◽  
Glenn D Braunstein ◽  
Charalampos Lyssikatos ◽  
...  
Keyword(s):  
Copy Number ◽  
Molecular Mechanisms ◽  
De Novo ◽  
Genetic Defect ◽  
Molecular Cytogenetics ◽  
Case Series ◽  
Sporadic Case ◽  
Genomic Rearrangements ◽  
Clinical Presentations ◽  
Depth Analysis

ObjectiveWe have recently reported five patients with bilateral adrenocortical hyperplasia (BAH) and Cushing's syndrome (CS) caused by constitutive activation of the catalytic subunit of protein kinase A (PRKACA). By doing new in-depth analysis of their cytogenetic abnormality, we attempted a better genotype–phenotype correlation of theirPRKACAamplification.DesignThis study is a case series.MethodsMolecular cytogenetic, genomic, clinical, and histopathological analyses were performed in five patients with CS.ResultsReinvestigation of the defects of previously described patients by state-of-the-art molecular cytogenetics showed complex genomic rearrangements in the chromosome 19p13.2p13.12 locus, resulting in copy number gains encompassing the entirePRKACAgene; three patients (one sporadic case and two related cases) were observed with gains consistent with duplications, while two sporadic patients were observed with gains consistent with triplications. Although all five patients presented with ACTH-independent CS, the three sporadic patients had micronodular BAH and underwent bilateral adrenalectomy in early childhood, whereas the two related patients, a mother and a son, presented with macronodular BAH as adults. In at least one patient,PRKACAtriplication was associated with a more severe phenotype.ConclusionsConstitutional chromosomalPRKACAgene amplification is a recently identified genetic defect associated with CS, a trait that may be inherited in an autosomal dominant manner or occurde novo. Genomic rearrangements can be complex and can result in different copy number states of dosage-sensitive genes, e.g., duplication and triplication.PRKACAamplification can lead to variable phenotypes clinically and pathologically, both micro- and macro-nodular BAH, the latter of which we speculate may depend on the extent of amplification.

scholarly journals The Role of Multimodality Imaging in Left-Sided Prosthetic Valve Dysfunction

2022 ◽  
Vol 9 (1) ◽  
pp. 12
Author(s):  
Manuela Muratori ◽  
Laura Fusini ◽  
Maria Elisabetta Mancini ◽  
Gloria Tamborini ◽  
Sarah Ghulam Ali ◽  
...  
Keyword(s):  
Prosthetic Valve ◽  
Multimodality Imaging ◽  
Integrated Approach ◽  
Advanced Imaging ◽  
Valve Dysfunction ◽  
Clinical Presentations ◽  
Imaging Approach ◽  
Treatment Administration ◽  
Life Threatening

Prosthetic valve (PV) dysfunction (PVD) is a complication of mechanical or biological PV. Etiologic mechanisms associated with PVD include fibrotic pannus ingrowth, thrombosis, structural valve degeneration, and endocarditis resulting in different grades of obstruction and/or regurgitation. PVD can be life threatening and often challenging to diagnose due to the similarities between the clinical presentations of different causes. Nevertheless, identifying the cause of PVD is critical to treatment administration (thrombolysis, surgery, or percutaneous procedure). In this report, we review the role of multimodality imaging in the diagnosis of PVD. Specifically, this review discusses the characteristics of advanced imaging modalities underlying the importance of an integrated approach including 2D/3D transthoracic and transesophageal echocardiography, fluoroscopy, and computed tomography. In this scenario, it is critical to understand the strengths and weaknesses of each modality according to the suspected cause of PVD. In conclusion, for patients with suspected or known PVD, this stepwise imaging approach may lead to a simplified, more rapid, accurate and specific workflow and management.

scholarly journals Acute Primary Adrenal Insufficiency after Hip Replacement in a Patient with Acute Intermittent Porphyria

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Adele Latina ◽  
Massimo Terzolo ◽  
Anna Pia ◽  
Giuseppe Reimondo ◽  
Elena Castellano ◽  
...  
Keyword(s):  
Postmenopausal Woman ◽  
Adrenal Insufficiency ◽  
Replacement Therapy ◽  
Genetic Disease ◽  
Hip Replacement ◽  
Acute Intermittent Porphyria ◽  
Adrenal Hemorrhage ◽  
Primary Adrenal Insufficiency ◽  
Threatening Condition ◽  
Life Threatening

Adrenal insufficiency is a potentially life-threatening condition when it occurs acutely, as in adrenal hemorrhage. Generally it is not reversible and requires chronic replacement therapy. Acute intermittent porphyria (AIP) is a rare genetic disease characterized by alterations in heme biosynthesis that result in accumulation of precursors in tissues. A crisis can be triggered by many conditions such as surgery and infections. Symptoms are similar to those of acute hypoadrenalism. Moreover, both conditions are characterized by hyponatremia. We describe the case of a postmenopausal woman known to be affected by AIP who developed after surgery a primary adrenal insufficiency associated with adrenal enlargement; the latter completely reverted in six months.

scholarly journals 17-Year-Old Boy with Renal Failure and the Highest Reported Creatinine in Pediatric Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Vimal Master Sankar Raj ◽  
Jessica Garcia ◽  
Roberto Gordillo
Keyword(s):  
Renal Failure ◽  
African American Male ◽  
Red Flags ◽  
Major Health ◽  
Health Burden ◽  
Clinical Presentations ◽  
Screening Strategies ◽  
The World ◽  
Progression Of Disease ◽  
Life Threatening

The prevalence of chronic kidney disease (CKD) is on the rise and constitutes a major health burden across the world. Clinical presentations in early CKD are usually subtle. Awareness of the risk factors for CKD is important for early diagnosis and treatment to slow the progression of disease. We present a case report of a 17-year-old African American male who presented in a life threatening hypertensive emergency with renal failure and the highest reported serum creatinine in a pediatric patient. A brief discussion on CKD criteria, complications, and potential red flags for screening strategies is provided.

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