Autosomal Recessive Porphyria Cutanea Tarda

Autosomal Recessive Porphyria Cutanea Tarda

Article
Brain & Nerve
Digestive Health
+6
Contributed byLester Fahrner, MD+1 moreJul 25, 2022

The topic Autosomal Recessive Porphyria Cutanea Tarda you are seeking is a synonym, or alternative name, or is closely related to the medical condition Hepatoerythropoietic Porphyria.

Quick Summary:

  • Porphyrias are disorders resulting from excess porphyrin buildup in the liver and bone marrow. Manufacturing hemoglobin and related proteins (heme synthesis) involves a class of molecules called porphyrins. Porphyrias are either inherited or acquired, and are described as acute, chronic, and cutaneous
  • Hepatoerythropoietic Porphyria (HEP) is a very rare form of hepatic porphyria that manifests as a skin condition. In this condition, the skin is severely sensitive to light, which often presents as blistering, scarring, and severe disfigurement
  • Hepatoerythropoietic Porphyria is described as the familial form of Porphyria Cutanea Tarda (or f-PCT). It is a genetic condition that is inherited in an autosomal recessive manner; the involvement of the UROD gene is noted. The onset of symptoms mostly occurs in early childhood
  • A healthcare provider typically diagnoses this genetic disorder by testing blood or other bodily fluids of the affected individual for porphyrin compounds, as well as  gene mutations
  • The treatments for Hepatoerythropoietic Porphyria can include the use of anti-malarial drugs in low doses and active sun protection. The prognosis is determined by the severity of symptoms and it is variable

Please find comprehensive information on Hepatoerythropoietic Porphyria regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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On the Article

Krish Tangella MD, MBA picture
Approved by

Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team
Lester Fahrner, MD picture
Reviewed by

Lester Fahrner, MD

Chief Medical Officer, DoveMed Team

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