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Description of Porphyrias

Total questions: 71

Worksheet time: 36mins

Name
Class
Date
1.

Which statement best defines porphyrias based on the description provided?

a)

A group of infectious diseases primarily affecting the lungs

b)

A rare group of inherited or sometimes acquired metabolic disorders with defective enzymes impairing heme biosynthesis

c)

An autoimmune condition characterized by antibody-mediated hemolysis

d)

A nutritional deficiency leading to reduced iron absorption

2.

In porphyrias, the biosynthesis of heme is impaired due to defective enzymes. Which sites are specifically mentioned as affected by this impairment?

a)

Kidneys and spleen

b)

Pancreas and thyroid

c)

Liver and/or bone marrow

d)

Skin and muscle

3.

In porphyrias, what is the immediate biochemical consequence of decreased enzyme activity in heme biosynthesis?

a)

Reduced heme demand by tissues

b)

Accumulation of intermediates of heme production

c)

Increased hemoglobin degradation

d)

Enhanced iron absorption from the gut

4.

A patient with porphyria shows increased urinary and fecal elimination of certain metabolites. What does this change most directly reflect?

a)

Overproduction of heme

b)

Accumulation of pathway intermediates leading to greater excretion

c)

Enhanced conversion of intermediates to heme

d)

Renal failure causing metabolite retention

5.

Which statement best explains symptom variability among different porphyrias?

a)

Symptoms are unrelated to the biosynthesis pathway

b)

They depend on which heme biosynthesis enzymes are affected and which intermediates accumulate

c)

All porphyrias lead to identical intermediate accumulation

d)

Symptoms occur only when intermediates are not excreted in urine

6.

In the heme synthesis pathway diagram, which substrates combine to form δ-aminolevulinate (δ-ALA) in the first step?

a)

Glycine and succinyl-CoA

b)

Glycine and acetyl-CoA

c)

Succinyl-CoA and acetyl-CoA

d)

Glycine and propionyl-CoA

e)

Serine and succinyl-CoA

7.

Which enzyme introduces Fe2+ into protoporphyrin to form heme?

a)

δ-ALA synthase

b)

Porphobilinogen deaminase

c)

Uroporphyrinogen decarboxylase

d)

Ferrochelatase

e)

δ-ALA dehydratase

8.

According to the pathway, porphobilinogen is formed after which immediate precursor step?

a)

Condensation of δ-ALA molecules

b)

Modification of uroporphyrinogen III

c)

Formation of the porphyrin ring

d)

Insertion of iron into protoporphyrin

e)

Decarboxylation of uroporphyrinogen

9.

Which disease is associated with deficiency of δ-ALA synthase activity?

a)

Porphyria cutanea tarda

b)

Acute intermittent porphyria

c)

Lead poisoning

d)

Sideroblastic anemia

e)

Variegate porphyria

10.

Lead poisoning most directly inhibits which enzyme(s) in the heme synthesis pathway as indicated in the diagram?

a)

Porphobilinogen deaminase only

b)

δ-ALA dehydratase and ferrochelatase

c)

Uroporphyrinogen decarboxylase and ferrochelatase

d)

δ-ALA synthase only

e)

Coproporphyrinogen oxidase

11.

A defect in porphobilinogen deaminase leads to which porphyria according to the figure?

a)

Acute intermittent porphyria

b)

Porphyria cutanea tarda

c)

Congenital erythropoietic porphyria

d)

Hereditary coproporphyria

e)

Sideroblastic anemia

12.

Which enzyme deficiency is linked to porphyria cutanea tarda in the depicted pathway?

a)

Porphobilinogen deaminase

b)

δ-ALA synthase

c)

Uroporphyrinogen decarboxylase

d)

Coproporphyrinogen oxidase

e)

Ferrochelatase

13.

Which criterion is explicitly used to classify porphyrias according to the material?

a)

Age at onset

b)

Inheritance pattern

c)

Response to therapy

d)

Geographic prevalence

14.

Within hepatic porphyrias, which condition is identified as the most common chronic (often cutaneous) type?

a)

Acute intermittent porphyria

b)

Porphyria cutanea tarda

c)

Erythropoietic protoporphyria

d)

Congenital erythropoietic porphyria

15.

According to the classification by organ of accumulation, which statement is correct?

a)

Erythropoietic variants are the most common

b)

Hepatic porphyrias are more common than erythropoietic variants

c)

Only erythropoietic porphyrias can be acute

d)

Hepatic porphyrias are exclusively cutaneous

16.

Which condition is classified as an acute hepatic porphyria and follows an autosomal dominant inheritance pattern?

a)

Acute intermittent porphyria

b)

Doss porphyria

c)

Porphyria cutanea tarda (acquired form)

d)

Congenital erythropoietic porphyria

17.

Which primary porphyria is autosomal recessive among the acute hepatic group?

a)

Hereditary coproporphyria

b)

Porphyria variegata

c)

Doss porphyria

d)

Porphyria cutanea tarda

18.

Porphyria cutanea tarda is categorized as which of the following?

a)

Acute hepatic porphyria, autosomal recessive

b)

Chronic hepatic porphyria, autosomal dominant or acquired

c)

Erythropoietic porphyria, autosomal dominant

d)

Erythropoietic porphyria, autosomal recessive

19.

Which erythropoietic porphyria is correctly matched with its inheritance pattern?

a)

Congenital erythropoietic porphyria — autosomal dominant

b)

Erythropoietic protoporphyria — autosomal dominant

c)

Erythropoietic protoporphyria — autosomal recessive

d)

Porphyria variegata — autosomal recessive

20.

Which statement best describes secondary porphyria?

a)

An inherited defect in heme biosynthesis

b)

An acquired condition due to external or systemic factors

c)

A congenital enzyme deficiency limited to the liver

d)

A purely dermatologic disorder present at birth

21.

Secondary coproporphyria is most directly associated with which of the following example causes listed for acquired porphyrias?

a)

Anemia, alcohol, chronic heavy metal poisoning

b)

Intoxication, hepatic diseases, blood disorders, infections, starvation

c)

Autoimmune thyroid disease and diabetes mellitus

d)

Genetic mutations in ALAS2

22.

A patient presents with features consistent with an acquired porphyria after prolonged alcohol use. Which specific secondary porphyria is most consistent with this trigger?

a)

Secondary coproporphyria

b)

Secondary protoporphyrinemia

c)

Acute intermittent porphyria

d)

Congenital erythropoietic porphyria

23.

Which porphyria has the highest prevalence in the general population?

a)

Acute intermittent porphyria

b)

Porphyria cutanea tarda (PCT)

c)

Hereditary coproporphyria

d)

Variegate porphyria

e)

Erythropoietic protoporphyria

24.

In which age range does porphyria cutanea tarda (PCT) most commonly present?

a)

Childhood (5–12 years)

b)

Adolescence (13–19 years)

c)

Early adulthood (20–29 years)

d)

Middle adulthood (30–50 years)

e)

Older adulthood (>65 years)

25.

Which enzyme has reduced activity in Porphyria Cutanea Tarda (PCT), leading to downstream biochemical changes?

a)

Uroporphyrinogen III decarboxylase (UROD)

b)

ALA dehydratase

c)

Ferrochelatase

d)

Porphobilinogen deaminase

26.

What is the immediate consequence of reduced UROD activity in PCT that contributes to photosensitivity?

a)

Accumulation of uroporphyrin in the skin

b)

Decreased bilirubin production

c)

Increased heme synthesis

d)

Iron depletion in erythrocytes

27.

Sunlight-dependent skin damage in PCT primarily results from which mechanism?

a)

Autoantibody formation against keratinocytes

b)

Release of reactive oxygen species from photoreactive porphyrins

c)

Direct UV-induced DNA crosslinking

d)

Thermal injury due to increased skin temperature

28.

Which statement best distinguishes Type I from Type II PCT?

a)

Type I is inherited and accounts for about 20% of cases; Type II is acquired and accounts for about 80%

b)

Type I is acquired (sporadic) and accounts for about 80% of cases; Type II is inherited (autosomal dominant) and about 20%

c)

Type I causes more severe clinical disease than Type II in all patients

d)

Type II is clinically distinguishable from Type I by unique skin lesions

29.

Which skin areas are most prone to blistering in Porphyria Cutanea Tarda due to increased fragility?

a)

Sun-exposed skin

b)

Moist intertriginous folds

c)

Palms and soles only

d)

Mucosal surfaces

30.

A patient with Porphyria Cutanea Tarda presents with small white cystic lesions after healing of blisters. What are these lesions called?

a)

Comedones

b)

Milia

c)

Xanthomas

d)

Molluscum bodies

31.

Which of the following is a characteristic hair-related finding in Porphyria Cutanea Tarda?

a)

Alopecia areata

b)

Hirsutism of the chest

c)

Hypertrichosis on the cheeks, temples, and eyebrows

d)

Trichotillomania

32.

Which combination best describes the cutaneous spectrum in Porphyria Cutanea Tarda?

a)

Nodules and ulcers on non–sun-exposed skin

b)

Vesicles/bullae with scarring and milia on sun-exposed skin

c)

Pustules and comedones sparing the face

d)

Eczematous plaques limited to the flexures

33.

In Porphyria Cutanea Tarda, which pigmentary change is commonly observed?

a)

Hypopigmentation

b)

Hyperpigmentation

c)

Vitiligo

d)

Cyanosis

34.

According to the clinical image of the hand, which lesion types are typically seen together in Porphyria Cutanea Tarda?

a)

Urticarial wheals and angioedema

b)

Vesicles/bullae, erosions, excoriations, and scars

c)

Papules with central umbilication

d)

Target lesions with central duskiness

35.

The image description notes scarring on the dorsum of the hands with white-grayish lesions and some erythematous erosions. What underlying process most likely led to these scars in Porphyria Cutanea Tarda?

a)

Impaired healing following blistering

b)

Primary bacterial infection

c)

Autoimmune deposition in the dermis

d)

Direct thermal injury

36.

Which statement best links Porphyria Cutanea Tarda lesions to environmental exposure?

a)

Lesions worsen with cold exposure.

b)

Lesions are triggered by pressure points.

c)

Lesions arise on sun-exposed skin due to photosensitivity.

d)

Lesions occur only under occlusion.

37.

In Porphyria Cutanea Tarda, which visible finding on the dorsum of the left hand is specifically highlighted in the image description as a single lesion on the left ring finger?

a)

Hyperpigmented macule

b)

Erosion

c)

Crust

d)

Blister

38.

Which combination best lists the concurrent cutaneous features described together on the back of the left hand in Porphyria Cutanea Tarda?

a)

Papules, nodules, and telangiectasias

b)

Erosions, crusts, scars, and hyperpigmentation

c)

Comedones, pustules, and scale

d)

Livedo reticularis, purpura, and necrosis

39.

In the second image, what is the most prominent lesion described on the index finger?

a)

Pustule

b)

Fluid-filled blister

c)

Hyperkeratotic plaque

d)

Fissure

40.

According to the second image description, which two lesion depths coexist on the back of the left hand?

a)

Deep ulcers and superficial erosions

b)

Subcutaneous nodules and epidermal cysts

c)

Petechiae and ecchymoses

d)

Verrucae and keratoacanthomas

41.

In porphyria cutanea tarda, which of the following is a common lesion location?

a)

Palmar surface of the hand

b)

Dorsum of the hand

c)

Soles of the feet

d)

Anterior surface of the forearm

e)

Lower back

42.

A patient suspected of porphyria cutanea tarda undergoes Wood lamp examination of urine. What characteristic finding supports the diagnosis?

a)

Blue fluorescence of clear urine

b)

No fluorescence in straw-colored urine

c)

Coral pink fluorescence of red-brown (tea-colored) urine

d)

Green fluorescence of cloudy urine

e)

Yellow fluorescence of dark brown urine

43.

Which set correctly lists common sites for PCT lesions?

a)

Palms, abdomen, thighs

b)

Face and neck; dorsum of the hand; extensor surface of the forearm

c)

Scalp, chest, posterior calf

d)

Eyelids, periumbilical area, plantar foot

e)

Inner arm flexor surface, lips, ear canal

44.

Which clinical presentation should prompt consideration of porphyria cutanea tarda (PCT) in an adult?

a)

Blistering rash on sun-exposed areas, particularly the backs of the hands, with a known susceptibility factor

b)

Nonpruritic macules confined to covered areas with no identified risks

c)

Painful nodules on the shins after cold exposure and no other findings

d)

Diffuse alopecia without skin lesions in sun-exposed regions

45.

Why is a high index of suspicion important in diagnosing porphyria cutanea tarda (PCT)?

a)

Because PCT symptoms overlap with several other conditions

b)

Because PCT only occurs in pediatric patients

c)

Because laboratory testing is unnecessary for PCT

d)

Because PCT presents exclusively without skin findings

46.

In suspected Porphyria Cutanea Tarda (PCT), which routine blood study is typically normal?

a)

CBC

b)

AST

c)

ALT

d)

GGT

e)

Serum ferritin

47.

Which set best reflects the liver chemistry pattern that may be seen in PCT on routine testing?

a)

Decreased AST, ALT, and GGT

b)

Normal AST and ALT with decreased GGT

c)

Increased AST, ALT, and GGT

d)

Isolated increase in alkaline phosphatase

48.

Which additional infectious disease screenings are recommended in the routine evaluation when susceptibility factors are present?

a)

Syphilis and EBV

b)

Hepatitis B, hepatitis C, and HIV

c)

Tuberculosis and CMV

d)

HSV and VZV

49.

For first-line confirmatory testing of PCT, which spot urine finding is characteristic?

a)

Marked increase in coproporphyrins

b)

Marked increase in uroporphyrins

c)

Decreased uroporphyrins

d)

Normal porphyrin pattern

50.

In patients with renal failure and impaired urinary excretion, which testing approach is required and preferred for porphyrin evaluation?

a)

24-hour urine porphyrins

b)

Spot urine porphobilinogen

c)

Serum porphyrins

d)

Fecal porphyrins

51.

Which study is categorized as second-line testing in the diagnostic workup for PCT?

a)

Serum porphyrins

b)

Spot urine uroporphyrins

c)

UROD activity analysis and gene mutation detection

d)

Liver chemistries

52.

In Porphyria Cutanea Tarda (PCT), the overarching therapeutic goal is to resolve symptoms by which primary strategy?

a)

Reducing porphyrin levels

b)

Increasing heme synthesis

c)

Eliminating bilirubin

d)

Suppressing immune responses

53.

Which of the following is a recommended general measure for patients with PCT?

a)

Encouraging moderate alcohol intake

b)

Avoiding susceptibility factors such as smoking, alcohol, and exogenous estrogen

c)

Increasing sun exposure to build tolerance

d)

Taking high-dose vitamin D supplements

54.

What photoprotective advice is appropriate for PCT management?

a)

Use narrow-band UV therapy weekly

b)

Reduce exposure to visible light, for example by using large particle sunscreens

c)

Prefer tanning beds over natural sunlight

d)

Rely solely on protective clothing without sunscreen

55.

Phlebotomy in symptomatic PCT is typically performed with what procedure schedule?

a)

Removal of 150 mL of blood weekly

b)

Removal of 450 mL of blood every 2 weeks

c)

Removal of 1,000 mL of blood monthly

d)

Single session removal of 300 mL followed by observation

56.

Which therapeutic targets best indicate adequate response to phlebotomy in PCT?

a)

Serum ferritin ~ 150 ng/mL and plasma porphyrin ~ 10 mcg/dL

b)

Serum ferritin ~ 15 ng/mL and plasma porphyrin ~ 1 mcg/dL

c)

Serum ferritin undetectable and plasma porphyrin 0 mcg/dL

d)

Serum ferritin ~ 50 ng/mL and plasma porphyrin ~ 5 mcg/dL

57.

Low-dose hydroxychloroquine is indicated in PCT under which circumstance?

a)

Patients with severe iron overload

b)

Patients unable to tolerate phlebotomy, such as those with concurrent anemia

c)

All patients regardless of genotype or iron status

d)

Only when plasma porphyrins are already normalized

58.

When using low-dose hydroxychloroquine for PCT, treatment is continued until which endpoint?

a)

Six months have elapsed

b)

Serum ferritin reaches 100 ng/mL

c)

Plasma or urine porphyrins have normalized

d)

Transaminases normalize

59.

In the ongoing management of porphyria cutanea tarda (PCT), when should hepatitis C be treated?

a)

Before any PCT therapy is started

b)

Only if alpha-fetoprotein is elevated

c)

After initiation of treatment for PCT

d)

Only when liver imaging shows cirrhosis

60.

Which combination is recommended for hepatocellular carcinoma screening in patients with porphyria cutanea tarda?

a)

CA-125 and pelvic ultrasound

b)

Alpha-fetoprotein and liver imaging

c)

CEA and colonoscopy

d)

PSA and prostate MRI

61.

Which statement best describes the relative frequency of Acute Intermittent Porphyria (AIP) among porphyrias?

a)

It is the rarest porphyria.

b)

It is the second most common porphyria.

c)

It is the most common porphyria.

d)

Its frequency varies too widely to classify.

62.

At what age range does Acute Intermittent Porphyria (AIP) most commonly present, and which sex is more affected?

a)

10–19 years; males more than females

b)

20–30 years; females more than males

c)

30–40 years; males more than females

d)

40–50 years; females and males equally

63.

Which inheritance pattern best describes the gene mutation responsible for Acute Intermittent Porphyria (AIP)?

a)

Autosomal recessive

b)

Autosomal dominant

c)

X-linked recessive

d)

Mitochondrial

e)

Y-linked

64.

Approximately what proportion of carriers of the AIP gene mutation are asymptomatic?

a)

10–20%

b)

30–40%

c)

50–60%

d)

80–90%

e)

Nearly 100%

65.

A trigger that increases heme demand leads to impaired activity of which enzyme in AIP, resulting in the accumulation of heme intermediates?

a)

ALA synthase

b)

Ferrochelatase

c)

Porphobilinogen deaminase (PBG-D)

d)

Uroporphyrinogen decarboxylase

e)

Cytochrome c oxidase

66.

Which pair of heme precursors accumulates and contributes to symptoms in AIP when enzyme activity is impaired?

a)

Heme and bilirubin

b)

Coproporphyrin and uroporphyrin

c)

Porphobilinogen (PBG) and δ-aminolevulinic acid (ALA)

d)

Protoporphyrin IX and iron

e)

Biliverdin and biliverdin reductase

67.

Which statement best explains why many triggers precipitate acute attacks in Acute Intermittent Porphyria (AIP)?

a)

They directly inhibit hepatic heme production, lowering demand

b)

They increase hepatic heme demand, stimulating heme biosynthesis and accumulating intermediates

c)

They increase renal excretion of porphyrins, reducing feedback inhibition

d)

They suppress cytochrome P450 activity, causing enzyme deficiency

68.

Which medication class is explicitly listed as a trigger due to induction of hepatic cytochrome P450 enzymes involved in heme biosynthesis?

a)

Beta-blockers

b)

Anticonvulsants such as barbiturates and phenytoin

c)

ACE inhibitors

d)

Anticoagulants

69.

A patient with AIP is being evaluated for drug safety. Which of the following is LEAST appropriate due to its potential to trigger an acute attack?

a)

Sulfonamides

b)

Anesthetics

c)

Hormone therapy

d)

Isotonic saline

70.

Inducers of which hepatic enzyme system are emphasized as important medication-related triggers of acute porphyric attacks?

a)

Cytochrome P450

b)

ATP synthase

c)

Glucose-6-phosphate dehydrogenase

d)

Monoamine oxidase

71.

Beyond medications, which factor listed can increase metabolic or hormonal drive and precipitate an acute porphyric attack?

a)

High-fiber diet

b)

Endogenous sex hormones

c)

Regular aerobic exercise

d)

Vitamin C supplementation