Porphyria
T.M. Craft, P.M. Upton in Key Topics In Anaesthesia, 2021
Porphyrias are metabolic disorders of porphyrin metabolism. They are uncommon diseases which may have a fatal outcome following exposure to certain anaesthetic agents. Four common forms exist. Acute intermittent porphyria (AIP), variegate porphyria (VP), porphyria cutanea tarda and congenital porphyria. Acute attacks present with acute abdominal pain, nausea and vomiting, confusion, psychosis, seizures, motor neuropathy and labile hypertension associated with tachycardia and sweating. Diagnosis in the latent phase is made in AIP by finding aminolaevulinic acid (ALA) in the urine and in VP by the presence of faecal porphyrins. AIP is caused by a deficiency of uroporphyrinogen- 1 -synthetase and is most commonly found in Scandinavia. Adequate analgesia must be provided as pain may precipitate an acute attack. Patients should be monitored for any signs of increased por-phyrinogenesis, with the urine being tested with Ehrlich’s aldehyde reagent for porphobilinogen.
Disorders of haem metabolism: iron and the porphyrias
Martin Andrew Crook in Clinical Biochemistry & Metabolic Medicine, 2013
Abnormalities of haem metabolism are important clinically. They include the porphyrias, which are rare, and disorders involving haem iron, such as iron deficiency, which are common in clinical practice. Most body tissues synthesize haem. In bone marrow it is incorporated into haemoglobin, an iron-containing pigment that carries oxygen from the lungs to tissues, and in muscle into myoglobin, which also binds oxygen. Carboxyhaemoglobin is cherry red in colour and is formed when carbon monoxide binds to haemoglobin or displaces oxygen from oxyhaemoglobin; haemoglobin has a greater affinity for carbon monoxide than for oxygen. Methaemoglobin is haemoglobin in which iron is in the ferric form. Sulphaemoglobin is similar to methaemoglobin but contains sulphur; unlike methaemoglobin, it cannot be reconverted to haemoglobin in vivo. The human haemochromatosis protein regulates the binding of transferrin to the transferrin receptor as well as regulating hepcidin.
Metabolic disorders and reticulohistiocytic proliferative disorders
Anupam Das, Sumit Sethi in Concise Dermatology, 2021
Porphyria cutanea tarda is the most common of all porphyrias and results from the deficiency of uroporphyrinogen decarboxylase enzyme, the fifth enzyme in the haem biosynthesis pathway. Erythropoietic protoporphyria is a very rare, autosomal dominant disorder in which excess protoporphyrins are produced. Amyloidosis can involve the skin alone, as localized cutaneous amyloidosis or as cutaneous manifestations of systemic amyloidosis. In primary systemic amyloidosis, the abnormal protein components are synthesized by clones of abnormal plasma cells and the condition is sometimes associated with multiple myeloma. Histologically, the deposits of macular and papular amyloidosis are seen in the papillary dermis. Xanthomata are deposits of lipid in histiocytes in the skin and may be associated with normal levels of lipids in the blood or with elevated levels of serum lipids. The lesions of xanthoma tuberosum are large nodules containing lipidized histiocytes and giant cells.
Total Corneal Melt in Patient with Porphyria Cutanea Tarda in Presence of Another Risk Factor
Published in Ocular Immunology and Inflammation, 2019
Sudesh Kumar Arya, Amit Raj, Piyush Kohli, Ravi Kant Bamotra
Purpose: To report a case of two siblings affected by porphyria cutanea tarda (PCT) presenting with varying severity of ocular disease and evaluation of difference in the presence of risk factors. Methods: Case report Result: A 42-year-old Indian male diagnosed with PCT and history of daily intake of alcohol, presented with sudden decrease in vision of right eye. Examination showed perforated cornea surrounded by rim of 360-degree avascular necrotic sclera, with no evidence of infection. Similar systemic history was present in his elder brother. He did not consume alcohol and presented with mere localized scleral thinning. Since the patient’s sibling acted as a natural control for the evaluation of alcohol as an independent risk factor, the difference in severity of disease can be explained on the basis of difference in alcohol intake. Conclusion: In the presence of progression of the disease, other risk factors like intake of alcohol should be evaluated.
A Case of Erythropoietic Protoporphyria
Published in Baylor University Medical Center Proceedings, 2016
Kathryn Lindsey, Micah Burch, John R. Krause
A 53-year-old Texas rancher developed a blistering skin rash that was sensitive to exposure to sunlight. He was referred to hematology with a presumptive diagnosis of porphyria. His peripheral blood counts were within normal limits, and a bone marrow examination revealed erythroid dyspoiesis and ringed sideroblasts. Serum, plasma, and erythrocyte protoporphyrin levels were elevated, the findings of which are consistent with a diagnosis of erythropoietic protoporphyria. This paper discusses the diagnosis and etiology of the porphyrias.
Anesthetic management of vaginal tear repair during early puerperium in a patient with acute intermittent porphyria
Published in Egyptian Journal of Anaesthesia, 2014
Mahmood Ghazanwy, Kanta Meena, Stalin Vinayagam
A 26 year old female with history of acute intermittent porphyria (AIP) was scheduled for vaginal tear repair after delivering her first baby. Raised blood pressure during her antenatal period was safely treated with α-methyl dopa. Her preoperative examination revealed no symptoms suggestive of acute exacerbation of AIP. Anesthesia was induced with fentanyl and propofol, and a proseal laryngeal mask airway (LMA) was inserted and maintained with intermittent propofol and inhalation of isoflurane in nitrous oxide and oxygen. Her intraoperative and postoperative period remained uneventful.
Related Knowledge Centers
- Acute Intermittent Porphyria
- Anemia
- Metabolic Diseases
- Bone Marrow
- Liver
- Porphyrins
- Uroporphyrinogen III Synthase