NOTES

NOTES
PORPHYRIA

GENERALLY, WHAT IS IT?

Chronic
PATHOLOGY & CAUSES
▪ E.g. porphyria cutanea tarda, erythropoietic
porphyria
▪ Metabolic diseases; accumulation of heme
▪ Skin manifestations
precursors
▪ Photosensitivity
▫ Porphyrin; neurologic/cutaneous
disorders ▫ Pain, discomfort, burning of sunlight-
exposed areas
▪ Mostly hereditary
▪ Vesiculo-erosive manifestations (e.g.
▫ Porphyria cutanea tarda (most common)
erosions, blistering)
▫ Acute intermittent porphyria
▪ Increased skin fragility
▫ Aminolevulinic acid dehydratase
deficiency porphyria (AKA Doss
porphyria) DIAGNOSIS
▫ Hereditary coproporphyria
▫ Variegate porphyria LAB RESULTS
▫ Congenital erythropoietic porphyria ▪ Blood, urine tests
▫ Increased levels of porphobilinogen in
CAUSES urine
▪ Sporadic/inherited enzyme mutations in ▪ Genetic testing
heme production → porphyrin accumulates
in tissues
TREATMENT
RISK FACTORS MEDICATIONS
▪ Smoke, alcohol, hormonal changes, fasting, ▪ Acute intermittent porphyria (AIP)
stress, certain drugs, sunlight exposure,
▫ Hospitalization during acute attack,
lead poisoning
intravenous hemin, etc.
▪ Porphyria cutanea tarda (PCT)
COMPLICATIONS ▫ Phlebotomy, chloroquine/
▪ Paralysis, seizures hydroxychloroquine sulfate, etc.

SIGNS & SYMPTOMS

Acute
▪ Resolve once attack passes (e.g. acute
intermittent porphyria, doss porphyria)
▪ Abdominal pain, vomiting, hypertension,
tachycardia, neurological/psychiatric
symptoms (e.g. seizures, neuropathy,
anxiety, confusion, hallucinations), red urine

OSMOSIS.ORG 447
 ACUTE INTERMITTENT
PORPHYRIA (AIP)
osms.it/acute-intermittent-porphyria

PATHOLOGY & CAUSES SIGNS & SYMPTOMS

▪ Neurovisceral disease ▪ Acute episodes lasting several hours to few
▫ Acute, recurrent attacks of abdominal days
pain + other clinical manifestations ▫ Severe, diffuse abdominal pain
(neuropsychiatric, gastrointestinal, ▫ Palpitations, sweating
urinary) ▫ GI: nausea, vomiting, constipation
▫ Neurological: seizure, peripheral
CAUSES neuropathy (e.g. tingling sensations in
▪ Autosomal dominant mutation of limbs), muscle weakness
hydroxymethylbilane synthase (HBMS) ▫ Psychiatric: irritability, anxiety,
gene → alterated codification of hallucinations
enzyme hydroxymethylbilane synthase ▫ Urinary: dysuria, urinary retention,
(AKA porphobilinogen deaminase/ discolored (reddish, red-brown) urine
uroporphyrinogen I synthase) → impaired
heme production → accumulation of
metabolites: porphobilinogen (PBG), MNEMONIC: 5Ps
aminolevulinic acid (ALA) Features of Acute
intermittent porphyria
RISK FACTORS Pain in the abdomen
▪ Drugs (e.g. barbiturates, antiepileptics, Polyneuropathy
rifampin) Psychological abnormalities
▪ Alcohol Pink urine
▪ Exposure to tobacco smoke Precipitated by drugs:
▪ Hormonal fluctuations (e.g. menstruation) including barbiturates, oral
▪ Dietary changes (e.g. reduced caloric contraceptives, sulfa drugs
intake)
▪ Stress (e.g. illness, psychological stress)
DIAGNOSIS
COMPLICATIONS
▪ Hypertension, kidney failure, neuromuscular LAB RESULTS
respiratory failure, hepatocellular carcinoma ▪ Elevation of heme precursor in urine (PBG)
▪ Genetic testing

448 OSMOSIS.ORG

TREATMENT
MEDICATIONS
▪ Intravenous hemin
▪ Symptomatic treatment (e.g. antiemetics,
pain medications)
PORPHYRIA CUTANEA TARDA (PCT)
osms.it/porphyria-cutanea-tarda
PATHOLOGY & CAUSES
▪ Blistering cutaneous lesions of sunlight-
exposed skin
TYPES
▪ PCT Type I: acquired disease
▪ PCT Type II: autosomal dominant disease
CAUSES
▪ Impaired function of uroporphyrinogen
decarboxylase (UROD) enzyme →
porphyrins overproduction, accumulation →
photosensitizing porphyrins in skin damage
proteins, lipids, basement membrane →
cutaneous lesions
RISK FACTORS
▪ Alcohol
▪ Exposure to tobacco smoke
▪ Hormonal imbalances
▪ Infectious disease (e.g. HIV, hepatitis C)
▪ Hemochromatosis, iron overloading
COMPLICATIONS
▪ Cirrhosis, hepatocellular carcinoma
Chapter 57 Porphyria
Figure 57.1 The urine of an individual with
porphyria (right).
SIGNS & SYMPTOMS
▪ Increased mechanical fragility after sunlight
exposure → painful vesicles, blisters on
hands/face (minor trauma)
▪ Increased facial hair growth (e.g.
hypertrichosis)
▪ Hardened yellow skin lesions (e.g.
scleroderma-like plaques)
▪ Hypermelanosis (brownish skin
pigmentation)
▪ Abnormal urine color
DIAGNOSIS
LAB RESULTS
▪ Elevated porphyrins level (orange-red
fluorescence on Wood lamp)
▪ Elevated porphyrins level in stool
▪ UROD activity in blood cells
Skin biopsy of lesions
▪ Subepidermal bullae, inflammation
▪ Immunofluorescence
▫ Immunoglobulins at dermal-epidermal
junctions
OSMOSIS.ORG 449
 TREATMENT
MEDICATIONS
▪ Low doses of chloroquine/
hydroxychloroquine sulfate

OTHER INTERVENTIONS
▪ Avoid sunlight exposure
▪ Discontinue aggravating substances
(alcohol, estrogen)
▪ Blood removal (e.g. phlebotomy) Figure 57.2 Skin lesions on the dorsum of
▫ Decrease body iron load both hands in a case of porphyria cutanea
▪ Limit iron-rich food tarda.

450 OSMOSIS.ORG