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Challenges in the identification of cobalamin-deficiency polyneuropathy.
Arch Neurol. 2003 Sep; 60(9):1296-301.AN

Abstract

BACKGROUND

Diagnosing cobalamin (Cbl) deficiency as a cause of polyneuropathy (PN) is problematic, as the frequency of both disorders increases with age, and serum Cbl levels can be difficult to interpret.

OBJECTIVES

To identify unique clinical or laboratory features among PN patients with Cbl deficiency and to examine the role of testing of serum metabolite levels in the identification of Cbl deficiency.

DESIGN

Cohort survey comparing patients with Cbl deficiency and cryptogenic PN identified during a 2-year period. Cobalamin deficiency was diagnosed using low serum Cbl levels or elevated serum methylmalonic acid or homocysteine levels.

SETTING

Academic neuromuscular clinic.

RESULTS

Of 324 PN patients, 27 were diagnosed as having Cbl deficiency. Twelve had Cbl levels within the normal range, but elevated serum metabolite levels. Compared with patients with cryptogenic sensory/sensorimotor PN, those with Cbl deficiency were more likely to have concomitant involvement of the upper and lower extremities and experience symptom onset in the hands and a sudden onset of symptoms (P<.005). These differences were seen regardless of whether Cbl deficiency was defined using low Cbl levels or elevated serum metabolite levels. Autoimmune pernicious anemia was identified in 6 (50%) of 12 Cbl-deficient patients with normal serum Cbl levels. The patients with PN and Cbl deficiency showed little objective improvement after parenteral replacement therapy; however, progression occurred less often in these patients compared with those with cryptogenic sensory/sensorimotor PN (P =.02).

CONCLUSIONS

This study highlights the challenges of proving that Cbl deficiency is the cause for PN and identifies clinical features that suggest Cbl-deficiency PN. Testing of serum metabolite levels may identify Cbl deficiency in some patients with normal serum Cbl levels.

Authors+Show Affiliations

Department of Neurology, University of Kansas Medical Center, Kansas City 66160, USA. dsaperstein@kumc.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

12975298

Citation

Saperstein, David S., et al. "Challenges in the Identification of Cobalamin-deficiency Polyneuropathy." Archives of Neurology, vol. 60, no. 9, 2003, pp. 1296-301.
Saperstein DS, Wolfe GI, Gronseth GS, et al. Challenges in the identification of cobalamin-deficiency polyneuropathy. Arch Neurol. 2003;60(9):1296-301.
Saperstein, D. S., Wolfe, G. I., Gronseth, G. S., Nations, S. P., Herbelin, L. L., Bryan, W. W., & Barohn, R. J. (2003). Challenges in the identification of cobalamin-deficiency polyneuropathy. Archives of Neurology, 60(9), 1296-301.
Saperstein DS, et al. Challenges in the Identification of Cobalamin-deficiency Polyneuropathy. Arch Neurol. 2003;60(9):1296-301. PubMed PMID: 12975298.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Challenges in the identification of cobalamin-deficiency polyneuropathy. AU - Saperstein,David S, AU - Wolfe,Gil I, AU - Gronseth,Gary S, AU - Nations,Sharon P, AU - Herbelin,Laura L, AU - Bryan,Wilson W, AU - Barohn,Richard J, PY - 2003/9/17/pubmed PY - 2003/10/24/medline PY - 2003/9/17/entrez SP - 1296 EP - 301 JF - Archives of neurology JO - Arch Neurol VL - 60 IS - 9 N2 - BACKGROUND: Diagnosing cobalamin (Cbl) deficiency as a cause of polyneuropathy (PN) is problematic, as the frequency of both disorders increases with age, and serum Cbl levels can be difficult to interpret. OBJECTIVES: To identify unique clinical or laboratory features among PN patients with Cbl deficiency and to examine the role of testing of serum metabolite levels in the identification of Cbl deficiency. DESIGN: Cohort survey comparing patients with Cbl deficiency and cryptogenic PN identified during a 2-year period. Cobalamin deficiency was diagnosed using low serum Cbl levels or elevated serum methylmalonic acid or homocysteine levels. SETTING: Academic neuromuscular clinic. RESULTS: Of 324 PN patients, 27 were diagnosed as having Cbl deficiency. Twelve had Cbl levels within the normal range, but elevated serum metabolite levels. Compared with patients with cryptogenic sensory/sensorimotor PN, those with Cbl deficiency were more likely to have concomitant involvement of the upper and lower extremities and experience symptom onset in the hands and a sudden onset of symptoms (P<.005). These differences were seen regardless of whether Cbl deficiency was defined using low Cbl levels or elevated serum metabolite levels. Autoimmune pernicious anemia was identified in 6 (50%) of 12 Cbl-deficient patients with normal serum Cbl levels. The patients with PN and Cbl deficiency showed little objective improvement after parenteral replacement therapy; however, progression occurred less often in these patients compared with those with cryptogenic sensory/sensorimotor PN (P =.02). CONCLUSIONS: This study highlights the challenges of proving that Cbl deficiency is the cause for PN and identifies clinical features that suggest Cbl-deficiency PN. Testing of serum metabolite levels may identify Cbl deficiency in some patients with normal serum Cbl levels. SN - 0003-9942 UR - https://www.unboundmedicine.com/medline/citation/12975298/Challenges_in_the_identification_of_cobalamin_deficiency_polyneuropathy_ L2 - https://jamanetwork.com/journals/jamaneurology/fullarticle/vol/60/pg/1296 DB - PRIME DP - Unbound Medicine ER -