Variegate Porphyria

What this deck covers

Variegate Porphyria in thirteen clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.

Diagnoses and management options tested

Across the thirteen cases you are asked to choose between options such as: Acute appendicitis, Acute intermittent porphyria, Variegate porphyria, Porphyria cutanea tarda, Autosomal dominant inheritance, X-linked recessive inheritance, Onset always before age 5 years, Complete penetrance in gene carriers, Elevated serum amylase, Elevated urine porphobilinogen, Elevated blood glucose, Leukocytosis with a left shift, Joint swelling and arthritis, Skin fragility on sun-exposed areas, Palmar erythema, Digital clubbing, Guillain-Barré syndrome, Myasthenia gravis, Transverse myelitis, Protoporphyrin IX, Coproporphyrinogen III, Delta-aminolevulinic acid (ALA) and porphobilinogen (PBG), Uroporphyrinogen I, Fasting increases heme synthesis demand, Fasting induces hepatic ALAS1 via PGC-1alpha activation, Fasting decreases renal porphyrin excretion.

Clinical pearls from this deck

• The acute attack is severe colicky abdominal pain, vomiting, constipation, agitation, tachycardia, hypertension and dark reddish-brown urine, precipitated here by two classic triggers — dieting and oral contraceptives. Variegate porphyria is the answer because it causes acute attacks and photosensitivity.
• Variegate porphyria is autosomal dominant with low penetrance — only about 10–15% of carriers ever develop symptoms. Paediatric onset is rare but well documented, and tends to present with the cutaneous features first.

The thirteen worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.