Porphyria by: Popovici Mihaela

Vampire Myth Have you ever asked yourself if there exist any vampires or zombies? What are the origins of the vampire myth? Porphyria is the answer! also called Vampire disease the term derives from greek: porphura – meaning purple pigment In Romanian is - Porfirie Porphyria – is a genetical disorder

Similarities between: Vampire Porphyrics people Vampires are sensitive to light Vampires are afraid of garlic Vampires drink blood 3 types of porphyria disease cause the sensitivity to light Porphyrics have to be careful about foods high in Sulphur. Garlic has a high sulphur content. Thus, porphyrics must avoid garlic. Wrong. If porphyrics will drink blood they will feel really bad or can die.

How do people treat this disease? These people do not socialize much, and seldom reproduce, which is easy to understand. Now they're having an easier time, as the disease is understood. In the Middle Ages, however, people feared this and parents often hid their suffering children from public eyesight. Some members of royal/noble families are known to have suffered from this disease, and had to spend their whole life in their homes. There was lots of speculation by outsiders whenever they found out there was a secret family member that never shows up and never faces other people...

Signs and Symptoms Porphyrias - are a group of inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway acute (hepatic) porphyrias cutaneous (erythropoietic) porphyrias Signs and symptoms: Abdominal pain Vomiting Acute neuropathy Seizures and mental disturbance Hallucinations Depression Anxiety Paranoia Sometimes – fast heart rate Constipation or diarrhea can also accure Signs and symptoms: Affected skin(photosensitivity- photodermatitis) Blisters Necrosis of the skin and gums Itching Swelling Increased hair growth on different areas, such as forehead 1)Majority of porphyrias are genetic 2)rarely acute liver dysfunction from liver disease Catalysts for disease: drugs (alcohol, sulfa drugs, hormonal contraception, antibiotics, sedatives…), some chemicals, sertain foods and fasting. In some forms of porphyria: After exposure to sunlighet, accumulated heme in urine can cause: Dark reddish or dark brown color Or purple hue or pink urine Teeth and fingernails get a reddish colour

Pathogenesis Porphyrins are the main precursors of heme, an essential constituent of hemoglobin, myoglobin, catasale, peroxidare, respiratory and P450 liver cytochromes. Deficiency in the enzymes of the porphyrin pathway leads to insufficient production of heme. There are eight enzymes in the heme biosynthetic pathway hepatic porphyrias are characterized by acute neurological attacks: seizures, psychosis, extreme back and abdominal pain and an acute polyveuropathy. erythropoietic forms are characterized by: skin problems, usually a light-sensitive blistering rash and increased hair growth.

Types of Porphyria Enzyme Location of enzyme Associated porphyria Type of porphyria δ-aminolevulinate (ALA) synthaseMitochondrion X-linkedX-linked sideroblastic anemia (XLSA)sideroblastic anemia Erythropoieti c δ-aminolevulinate (ALA) dehydrataseCytosol Doss porphyria/ALA dehydratase deficiencyALA dehydratase deficiency Hepatic hydroxymethylbilane (HMB) synthasehydroxymethylbilane (HMB) synthase (or PBG deaminase) Cytosol acute intermittent porphyria acute intermittent porphyria (AIP) Hepatic uroporphyrinogen (URO) synthaseCytosol Congenital erythropoietic porphyriaCongenital erythropoietic porphyria (CEP) Erythropoeiti c uroporphyrinogen (URO) decarboxylaseCytosolPorphyria cutanea tardaPorphyria cutanea tarda (PCT)Hepatic coproporphyrinogen (COPRO) oxidaseMitochondrion Hereditary coproporphyria Hereditary coproporphyria (HCP) Hepatic protoporphyrinogen (PROTO) oxidaseMitochondrionVariegate porphyriaVariegate porphyria (VP)Mixed FerrochelataseMitochondrion Erythropoietic protoporphyria Erythropoietic protoporphyria (EPP) Erythropoieti c

Porphyria examples Case 1 A 43-year-old single male farmer had dark skin, hypertrichosis, and dark urine present from birth. At age 8 his teeth were noted to change in color and blisters and vesicles appeared on sun-exposed areas. The blisters became ulcers that healed with difficulty. Gradually, the areas that developed repeated blisters became sclerotic. The maternal grandparents were first cousins. He has nine siblings, one of whom presented the same skin condition (Case 2). Skin examination revealed ulcers, hyperkeratosis, hypopigmentation, and fibrosis in sun- exposed skin (Fig. 1), especially on the face, scalp, ears, arms, and hands (which were severely mutilated) (Fig. 2).

Porphyria examples Case 2 A 29-year-old single male farmer had dark skin and dark urine present since birth. He also had a notable excess of body hair, especially on the face, since puberty. Vesicles and blisters occurred after exposure to the sun. Skin examination showed areas of hyperpigmentation and fibrosis of the face with retraction of the perioral region. He also had fibrotic changes of the ears and nose. The teeth were stained a chestnut color. Blood tests revealed the following: 5.76 million erythrocytes /mm3, hemoglobin 20.3 g/ml, hematocrit 52 percent. HCM 31mg, MCHC 34mg, MCV 91 micra3, leucogram and platelets were normal, OGT 46 u/ml (normal range ), PGT 80 u/ml (4 - 26), gamma-GT 39 u/l (6-25).

Royal people Famous people who possible suffered this disease (no one knows for sure, because the disease was first explained biochemically by Dr. Felix Hoppe-Seyler just in 1874): King George III – (1738 – 1820) King of Great Britain and Ireland Vincent van Gogh – ( ) had acute porphyria Mary Stuart – (died in 1587) Queen of Scots

Porphyria photos

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