Hereditary Coproporphyria Clinical Presentation

Updated: Mar 22, 2021
  • Author: Thomas G DeLoughery, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Presentation

History

Coproporphyria has neurovisceral, psychiatric, neurologic, and skin manifestations. The usual sequence of events in acute attacks is abdominal pain, then psychiatric symptoms (eg, hysteria), then peripheral neuropathies. The exact mechanism by which the porphyrin precursors lead to these symptoms is unknown.

Neurovisceral manifestations

Neurovisceral signs and symptoms consist of autonomic neuropathies such as constipation, abdominal pain, and vomiting. Patients can have very severe abdominal pain that lasts for several days. Pain of short duration (minutes) or chronic abdominal pain does not develop in coproporphyria. The pain often is epigastric and is colicky in nature.

Patients often are free of pain between attacks. Constipation is common and can be very severe. Nausea and vomiting frequently are present. 

Neurologic manifestations

Patients with coproporphyria can have both central nervous system (CNS) and peripheral nervous system manifestations. CNS manifestations include seizures, mental status changes, cortical blindness, and coma. Posterior reversible encephalopathy has been reported. [9]

Peripheral neuropathies are predominantly motor neuropathies and can mimic Guillain-Barré syndrome. The weakness usually starts in the lower limbs and ascends, but neuropathies occur in any nerve distribution.

Diffuse pain, especially in the upper body, can be observed. Patients also can develop autonomic neuropathies, including hypertension and tachycardia.

Psychiatric manifestations

A wide variety of psychiatric symptoms including aggitation, confusion, hallucinations, anxiety and psychosis have been reported. [10]  Depression is common. Patients with psychiatric manifestations usually have concurrent neurologic or abdominal symptoms.

Skin manifestations

Hereditary coproporphyria rarely (5%) involves skin photosensitivity. [2] The skin disease is similar to porphyria cutanea tarda. With long-term (not acute) sun exposure, patients can develop vesicles and bullae. If patients are symptomatic with coproporphyria, they tend to have neurovisceral symptoms rather than skin symptoms. Blisters form in sun-exposed areas and can evolve into chronic scarred areas of fragile skin. Excessive hair growth may also develop in sun-exposed areas.

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Physical Examination

Vital signs during attacks are as follows:

  • Tachycardia develops in 30-80% of patients
  • Fever can be present in some patients
  • Hypertension develops in 50% of cases and may persist between attacks
  • Dark reddish urine may be present [1]

Neurologic manifestations of attacks are as follows:

  • Typically, the neuropathy is a motor neuropathy that is more predominant in the lower limbs
  • Areflexia is observed during the examination; however, any nerve can be involved. Cranial neuropathies also are observed, and the patient may have cortical blindness

Abdominal examination: Despite the intense pain that may accompany a severe attack, the findings on abdominal examination often are nonspecific.

Skin manifestations are as follows:

  • Blisters, chronic erosion, and areas of excessive hair growth may be present
  • Skin damage develops in sun-exposed areas of the skin
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