3- WHEN an attack comes

Elogio istorico di Amerigo Vespucci- Giovanni e Adamo Fabbroni 1787“The main symptoms are neurological and can affect the peripheral nervous system, central and autonomous, establishing multiple visceral symptoms. Abdominal pain, often intense, generalized or localized, is the most common symptom as a sign of the beginning of an acute attack.

Palpation of the abdomen causes pain, but there is no muscular defense. They are associated with nausea, vomiting, constipation, diarrhea, abdominal distension, urinary retention, dysuria, tachycardia, hypertension, sweating, fever, tremors, convulsions. It is also common peripheral neuropathy in the legs of motor, associated with paresthesia and numbness and cramping in the muscles of the limbs. They may be involved cranial nerves leading in severe cases to bulbar paralysis, respiratory compromise and death.

(In the case of acute intermittent porphyria,) there are no cutaneous manifestations. The evolution of an acute attack is highly variable between individuals and within the same individual, lasting from a few days to several months. Psychiatric disorders can be prominent and be the only feature of the disease and varies from one state of anxiety to a real psychosis.It is described a significantly increased risk of developing hepatocellular carcinoma. ”  (source prof. Claudio Rugarli MD – Systematic Internal Medicine, ed. Masson)

“The pain can be excruciating and is disproportionate to the abdomen state or other physical signs. Abdominal manifestations may result from effects on visceral nerves or from local vasoconstriction ischemia. The urine is red or reddish-brown and positive for PBG during an attack.

All components of the peripheral nervous system and the CNS can be involved. Motor neuropathy is common with severe and prolonged attacks. Muscle weakness usually starts at the ends, but can involve any motor neuron cranial nerve and proceed to quadriplegia. Bulbar involvement can cause respiratory failure.

CNS involvement may cause seizures or mental disorders (such as apathy, depression, agitation, psychosis, hallucinations). Convulsions, hallucinations and psychotic behavior may be caused or aggravated by hyponatremia or hypomagnesemia, which may also contribute to cardiac arrhythmias. The excess catecholamines typically cause restlessness and tachycardia.

The labile hypertension with transiently high BP can cause vascular abnormalities that progress in a fatal high blood pressure, if left untreated. The renal failure linked to acute porphyria is multifactorial: acute hypertension (which can lead to chronic hypertension) is probably the main trigger. “

Some patients have less severe prolonged symptoms (eg, constipation, fatigue, headaches, back pain or thigh, paresthesias, tachycardia, dyspnea, insomnia, depression, anxiety or other mood disorders, seizures).

The motor involvement during acute attacks can lead to persistent muscle weakness and muscle atrophy between attacks. Cirrhosis, hepatocellular carcinoma, systemic arterial hypertension, and renal failure become more common after middle age in AIP and perhaps even in VP and HCP, especially in patients with previous attacks of porphyria. “ (in abstract from  MD Stig Thunel – Merck’s Manual for professionals)

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