A Family Doctor's Tale - PORPHYRIA

DOC I HAVE PORPHYRIA

Porphyria is an autosomal dominant inherited disorder of hemoglobin biosynthesis.


Porphyrins are produced in the process of hemoglobin synthesis.

Because of the deficiency of enzymes in the porphyria patients, the porphyrins are not converted into hemogloblins.

As a a result excessive porphyrins accumulates and less hemoglobin is formed.

The  red blood cells formation is affected resulting in neurological dysfunction or photosensitive rashes.


The causes of Porphyria is:
It is an inherited deficiency of one or more enzymes helping to synthesize hemoglobin.

Acute intermittent porphyria can be precipitated by
1.many drugs:
a.barbiturates
b.sulphonamides
c.methyl dopa
d.oral contaceptives

2.infection

3.alcohol

4.starvation

5.hypoglycemia

Chronic cutaneous porphyria may also be precipitated by
1.the same agents as above

2.hepatotoxins

It is a lifelong disease and there is no cure for it.

The symptoms of Porphyria are:
Symptoms:


Acute intermittent porpyria
1.recurrent attacks of neurologic dysfunction affecting the autonomic nervous system:
a.fever
b.tachycardia
c.nausea
d.vomiting
e.abdominal pain -main recurring symptom
f.sweating
g.hypertension
h.leucocytosis

2.peripheral nervous system
a.mononeuritis multiplex with nerve pain
b.polyneuropathies
c.cranial neuropathies

3.central nervous system
a.psychiatric disturbance
b.seizures

Chronic cutaneous tarda:
1.bullous eruption on exposure to sunlight
2.evidence of hepatic disease

The diagnosis of Porphyria is made by:
Diagnosis of Porphyria is often based on
1. family history of Porphyria

2. porphyrins in the urine with urine turning dark red or brown on exposure to light

3. 24 hour excretion of urinary porphoblininogen and delta-aminolevulinic acid increased in acute porphyria

4. 24 hour excretion of urnary porphobilinogen and other porpyrins increased in other porphyrias

5.50 per cent reduction of uroporphyrinogen I synthesase in red blood cells diagnostic of acute intermittent porphyria

6.MRI or ultrasound of the abdomen may be necessary due to persistant recurrent abdominal pain

The complications of Porphyria are:

1. Anemia

2. damage to liver and gallstone formation


3. seizures and brain damage

4.Paralysis

5.Scarring of the skin

The treatment of Porphyria is by:
1.Blood transfusion of hematin in severe cases

2.high carbohydrate diet helps limit the production of porphyrins


3.Avoid causative agents especially medications

4.propanolol for tachycardia

5.anagesics for pain

Other treatment includes:

1.chloroquine

2.Vitamin A supplements

3.Removal of blood to reduce the porphyrins

4.Avoid alcohol

The prognosis of Porphyria is :
Prognosis is fair for Porphyria patients with modern treatment however the illness is a lifelong condition.

There is recurrence of attacks and high rates of hospitalization

The Prevention of Porphyria is by:
Genetic counseling and testing for Porphyria