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7 out of 7

A 16yr old female presented with acute abdominal pain after being administered sulphur drugs she was incoherent and suffered a seizure. The most likely disorder

A Acute intermittent porphyria

B Adenosine deaminase deficiency

C Congenital erythropoitic porphyria

D Hgprt deficiency

Ans. A

Acute intermittent porphyria

Clinical features

1. The clinical features of porphyria fall into two broad categories.

a. Photosensitive skin manifestations,

i. Attributable to excess production and accumulation of porphyrins in the skin,

ii. Occur in PCT, congenital erythropoietic porphyria (CEP), hereditary coproporphyria (HCP), variegate porphyria (VP) and erythrohepatic protoporphyria (EHP).

iii. Pain, erythema, bullae, erosions, hirsutism and hyper­pigmentation are characteristic

iv. Occur predominantly on areas of the skin that are exposed to sunlight .

v. The skin also becomes especially sensitive to damage from mild trauma.

b. An acute relaps­ing and remitting neurological syndrome,

i. Characteristic of acute intermittent porphyria (AlP), HCP, VP and ALA dehydratase deficiency (plumb porphyria).

ii. This presents invariably with acute abdominal pain together

iii. Autonomic dysfunction such as tachycardia, hypertension and constipation.

2. Other frequent associations include

a. Neuro­psychiatric manifestations,

b. Hyponatremia due to SIADH.

c. Acute neuropathy which is usually motor, and can result in some cases in respiratory failure.

The forms HCP and VP can present with either symptom pattern or with a mixed picture.

There is episodic pattern of these attacks. they are provoked by drugs such as anticonvulsants, sulphonamides, estrogen and progesterone, especially the oral contraceptive pill, or by alcohol and even fasting.

3. Diagnosis (Ref. Hari- 18th ed., Pg. 3173)

ALA and PBG levels are substantially increased in plasma and urine, especially during acute attacks, and become normal only after prolonged latency.

4. Treatment of AIP

a. Treatment with a high-carbohydrate diet diminishes the number of attacks.

b. Acute attacks may be life-threatening withdrawal of the inciting agent and treatment with analgesics and intravenous glucose and hematin.

5. Porphyria Cutanea Tarda

a. Treatment

i. Reducing or stopping alcohol consumption may alone lead to improvement.

ii. Phlebotomy without oral iron supplementation.

iii. 3. Very low dose antimalarials (as low as 200 mg of hydroxychloroquine twice weekly), alone or in combination with phlebotomy, will increase the excretion of porphyrins, improving the skin disease.