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Neuropathic pain in hereditary coproporphyria.

Chen GL, Yang DH, Wu JY, Kuo CW, Hsu WH - Pak J Med Sci (2013)

Bottom Line: These diseases are disorders of heme biosynthesis characterized by acute attacks of neurological symptoms.Clinical manifestations of acute porphyria are nonspecific and are associated with multiple organ systems.This report examines a rare case of an uncommon type of acute porphyria in a patient with an initial presentation of abdominal pain and progressive polyneuropathy.

View Article: PubMed Central - PubMed

Affiliation: Guan-Liang Chen, Department of Internal Medicine, Taichung Armed Forces General Hospital, Taichung, Taiwan, Republic of China.

ABSTRACT
Acute porphyrias are rare diseases with varying incidences worldwide. These diseases are disorders of heme biosynthesis characterized by acute attacks of neurological symptoms. Acute porphyria should be considered in patients with unexplained abdominal pain or neurological damage. Clinical manifestations of acute porphyria are nonspecific and are associated with multiple organ systems. This report examines a rare case of an uncommon type of acute porphyria in a patient with an initial presentation of abdominal pain and progressive polyneuropathy.

No MeSH data available.


Related in: MedlinePlus

Change in urine color before and after sun exposure Left figure is urine of the first day. Right figure is urine after sun exposure for 3 days. Urine color changed to “port wine” color after sun exposure. This color change is due to increased concentrations of porphyrin intermediates in the urine, indicating an abnormality in production and a partial block within the enzymatic porphyrin chain with metabolite formation. The urine color usually becomes darker with acute illness, even dark reddish or brown after sun exposure.
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Figure 1: Change in urine color before and after sun exposure Left figure is urine of the first day. Right figure is urine after sun exposure for 3 days. Urine color changed to “port wine” color after sun exposure. This color change is due to increased concentrations of porphyrin intermediates in the urine, indicating an abnormality in production and a partial block within the enzymatic porphyrin chain with metabolite formation. The urine color usually becomes darker with acute illness, even dark reddish or brown after sun exposure.

Mentions: A sensory conduction study of the median, ulnar, and sural nerves revealed reduced sensory nerve action potential amplitude and delayed onset latency. Computed tomography of the brain was normal, and examination of cerebrospinal fluid showed no remarkable findings. Initial differential diagnoses included acute porphyria, lead toxicity, and vasculitis. Serum lead levels and autoimmune titers were normal, thus ruling out lead poisoning or vasculitis. A simple urine test was performed in which the urine sample of the patient was exposed to sunlight for 3 days. The urine changed from a normal yellow to port wine color after 3 days because of the accumulation of increased concentrations of porphyrin intermediates (Fig.1). Hoesch and Watson–Schwartz urine tests were also performed. These tests revealed increased levels of coproporhyrin and porphyrin precursors such as porphobilinogen (PBG) and aminolevulinic acid. A diagnosis of acute porphyria was thereby confirmed. Furthermore, PBG deaminase activity was within the normal range, suggesting a specific diagnosis of HCP, since patients with AIP have low PBG deaminase activity, those with ADP have normal PBG levels, and those with VP often exhibit cutaneous manifestations. The patient was initially treated with intravenous glucose 200 mg/day and cimetidine 300 mg twice daily. Abdominal pain and polyneuropathy showed mild improvement after initiating therapy. Soon after, she received intravenous hemin therapy, and the duration and severity of her abdominal pain decreased. The patient then continued to receive regular rehabilitation therapy for motor and speech deficits. After two months, the patient had no recurrence of symptoms, and her muscle strength improved significantly. She was instructed to avoid predisposing factors such as sunlight and nonsteroidal anti-inflammatory drugs.


Neuropathic pain in hereditary coproporphyria.

Chen GL, Yang DH, Wu JY, Kuo CW, Hsu WH - Pak J Med Sci (2013)

Change in urine color before and after sun exposure Left figure is urine of the first day. Right figure is urine after sun exposure for 3 days. Urine color changed to “port wine” color after sun exposure. This color change is due to increased concentrations of porphyrin intermediates in the urine, indicating an abnormality in production and a partial block within the enzymatic porphyrin chain with metabolite formation. The urine color usually becomes darker with acute illness, even dark reddish or brown after sun exposure.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3809238&req=5

Figure 1: Change in urine color before and after sun exposure Left figure is urine of the first day. Right figure is urine after sun exposure for 3 days. Urine color changed to “port wine” color after sun exposure. This color change is due to increased concentrations of porphyrin intermediates in the urine, indicating an abnormality in production and a partial block within the enzymatic porphyrin chain with metabolite formation. The urine color usually becomes darker with acute illness, even dark reddish or brown after sun exposure.
Mentions: A sensory conduction study of the median, ulnar, and sural nerves revealed reduced sensory nerve action potential amplitude and delayed onset latency. Computed tomography of the brain was normal, and examination of cerebrospinal fluid showed no remarkable findings. Initial differential diagnoses included acute porphyria, lead toxicity, and vasculitis. Serum lead levels and autoimmune titers were normal, thus ruling out lead poisoning or vasculitis. A simple urine test was performed in which the urine sample of the patient was exposed to sunlight for 3 days. The urine changed from a normal yellow to port wine color after 3 days because of the accumulation of increased concentrations of porphyrin intermediates (Fig.1). Hoesch and Watson–Schwartz urine tests were also performed. These tests revealed increased levels of coproporhyrin and porphyrin precursors such as porphobilinogen (PBG) and aminolevulinic acid. A diagnosis of acute porphyria was thereby confirmed. Furthermore, PBG deaminase activity was within the normal range, suggesting a specific diagnosis of HCP, since patients with AIP have low PBG deaminase activity, those with ADP have normal PBG levels, and those with VP often exhibit cutaneous manifestations. The patient was initially treated with intravenous glucose 200 mg/day and cimetidine 300 mg twice daily. Abdominal pain and polyneuropathy showed mild improvement after initiating therapy. Soon after, she received intravenous hemin therapy, and the duration and severity of her abdominal pain decreased. The patient then continued to receive regular rehabilitation therapy for motor and speech deficits. After two months, the patient had no recurrence of symptoms, and her muscle strength improved significantly. She was instructed to avoid predisposing factors such as sunlight and nonsteroidal anti-inflammatory drugs.

Bottom Line: These diseases are disorders of heme biosynthesis characterized by acute attacks of neurological symptoms.Clinical manifestations of acute porphyria are nonspecific and are associated with multiple organ systems.This report examines a rare case of an uncommon type of acute porphyria in a patient with an initial presentation of abdominal pain and progressive polyneuropathy.

View Article: PubMed Central - PubMed

Affiliation: Guan-Liang Chen, Department of Internal Medicine, Taichung Armed Forces General Hospital, Taichung, Taiwan, Republic of China.

ABSTRACT
Acute porphyrias are rare diseases with varying incidences worldwide. These diseases are disorders of heme biosynthesis characterized by acute attacks of neurological symptoms. Acute porphyria should be considered in patients with unexplained abdominal pain or neurological damage. Clinical manifestations of acute porphyria are nonspecific and are associated with multiple organ systems. This report examines a rare case of an uncommon type of acute porphyria in a patient with an initial presentation of abdominal pain and progressive polyneuropathy.

No MeSH data available.


Related in: MedlinePlus