Case Reports in Hematology / 2013 / Article / Tab 1

Case Report

Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias

Table 1

Clinical manifestations seen in attacks of acute porphyrias and findings noted in our case [14].

Findings seen in patients with porphyriaFindings seen in our patient

Neuropsychiatric manifestations

Autonomic nervous system (tachycardia, arrhythmias, restlessness, tremor, sweating, etc.)Tachycardia noted on some hospital admissions, but at the same time, the patient is on a beta blocker.
  Neuropathy (peripheral sensory)Has underlying neuropathy without any other underlying cause, on gabapentin.
  Motor paresis
Central nervous system
 Impairment of bulbar or respiratory function (respiratory paralysis)
 Psychiatric manifestations (behavior change, agitation, anxiety, and depression)Has ongoing anxiety/depression along with some agitation episodes.
 Mental status changesMultiple admissions for mental status changes.

Visceral manifestations

(i) Abdominal pain
(ii) Other locations of pain (chest, back, and limb)
More than 30 presentations over the past couple of years for abdominal pain and some for chest pain; has necessitated at least 6 computerized tomography (CT scans) and multiple ultrasound examinations.
Other GI symptoms: constipation, ileus, vomiting, and abdominal distention Present in our patient.
Bladder dysfunction (urinary retention, incontinence, and dysuria)Endorsed dysuria on some admissions.
HTN Noted in our patient.
Chronic kidney disease Present, necessitating dialysis.
Hyponatremia (from syndrome of inappropriate ADH secretion (SIADH))Hyponatremia noted on some admissions but exact etiology not worked up.
Dark-colored urineSee Figure 2.

Cutaneous manifestations

Bullous lesions usually uncommon in AIP (except for some patients with ESRD) but seen more so in neurocutaneous porphyrias (VP and HCP). Lesions not distinguishable from those of PCT. See Figure 1.

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