FIBROMYALGIA-LIKE SYMPTOMS ASSOCIATED WITH IRRITABLE BOWEL SYNDROME: A CHALLENGING DIAGNOSIS OF LATE-ONSET POMPE DISEASE MAUES DE PAULA, MD,2 AUDE GESQUIERE-DANDO, MD,1 SHAHRAM ATTARIAN, MD, PhD,1 ANDRE JEAN POUGET, MD,1 and EMMANUELLE SALORT-CAMPANA, MD1 1
Reference Center of Neuromuscular Disorders and ALS, Timone University Hospital, Aix-Marseille University, Boulevard Jean Moulin, Marseille, Cedex 05, France 2 Department of Pathology and Neuropathology, Timone University Hospital, Aix-Marseille University, Marseille, France Accepted 16 February 2015 ABSTRACT: Introduction: Late-onset Pompe disease (LOPD) is a rare autosomal recessive disorder which usually presents as a limb-girdle myopathy with early respiratory involvement. Methods: We report 2 sisters with an uncommon presentation of LOPD characterized by fibromyalgia-like pain associated with irritable bowel syndrome. Results: In both sisters, clinical examination was normal and had remained stable for 10 years. The serum creatine kinase level was mildly elevated. Several muscle biopsies showed slight nonspecific myopathic abnormalities. A dried blood spot test indicated acid maltase deficiency. The diagnosis of LOPD was confirmed genetically. Both sisters subsequently developed proximal muscle weakness after pregnancy and started enzyme replacement therapy. Under treatment, gastrointestinal symptoms improved, but pain persisted. Conclusions: Clinicians should be aware of this atypical presentation of LOPD to enable earlier diagnosis and treatment. Muscle Nerve 52: 300–304, 2015
Pompe
disease, or glycogen storage disease type II, is an autosomal recessive disorder resulting in acid maltase deficiency and progressive muscle weakness. The disease onset varies from the classical infantile form to late-onset Pompe disease (LOPD). The classical presentation for LOPD consists of painless limb-girdle weakness followed by respiratory involvement. However, the diagnosis remains difficult and may be delayed, because LOPD can resemble other muscle diseases. This can lead to misdiagnosis, even in specialized centers.1–4 Because enzyme replacement therapy (ERT) is now available, early diagnosis permits earlier initiation of treatment. Thus, atypical presentations should be recognized.
Abbreviations: ACR, American College of Rheumatology; ALT, alanine amino transferase; AST, aspartate amino transferase; CK, creatine kinase; CT, computed tomography; DBS, dried blood sample; EMG, electromyography; ERT, enzyme replacement therapy; ESR, erythrocyte sedimentation rate; FVC, forced vital capacity; HLA, human leukocyte antigen; IU, international unit; LOPD, late onset Pompe disease; NADH-TR, nicotinamide adenine dinucleotide - tetrazolium reductase; PAS, periodic acid–Schiff; RhGAA, recombinant human aglucosidase alpha Key words: diagnosis; fibromyalgia; gastrointestinal function; glycogenosis type II; pain; Pompe disease Correspondence to: E. Salort-Campana; e-mail: [email protected] C 2015 Wiley Periodicals, Inc. V
Published online 20 February 2015 in Wiley Online Library (wileyonlinelibrary. com). DOI 10.1002/mus.24618
300
Fibromyalgia-Like Symptoms and Late-Onset Pompe Disease
We report 2 sisters who presented with an atypical form of LOPD characterized by fibromyalgialike pain and gastrointestinal symptoms. CASE REPORT
In 2000, the index patient, a 19-year-old woman was referred to the Rheumatology department due to widespread joint and muscle pain. The symptoms had begun when she was age 16 years and included abdominal pain and distension, diarrhea, and constipation. She complained of symmetric arthralgia, back pain, and widespread myalgia exacerbated by cold temperatures. She had no relevant personal or family history. She did not report exercise intolerance, difficulty in climbing or walking, or dyspnea. Clinical examination revealed specific tender points to palpation, as seen in fibromyalgia. Neurological examination revealed no abnormalities. Laboratory investigations revealed a moderately elevated serum creatine kinase (CK) level (794 IU/L; normal,
Reference Center of Neuromuscular Disorders and ALS, Timone University Hospital, Aix-Marseille University, Boulevard Jean Moulin, Marseille, Cedex 05, France 2 Department of Pathology and Neuropathology, Timone University Hospital, Aix-Marseille University, Marseille, France Accepted 16 February 2015 ABSTRACT: Introduction: Late-onset Pompe disease (LOPD) is a rare autosomal recessive disorder which usually presents as a limb-girdle myopathy with early respiratory involvement. Methods: We report 2 sisters with an uncommon presentation of LOPD characterized by fibromyalgia-like pain associated with irritable bowel syndrome. Results: In both sisters, clinical examination was normal and had remained stable for 10 years. The serum creatine kinase level was mildly elevated. Several muscle biopsies showed slight nonspecific myopathic abnormalities. A dried blood spot test indicated acid maltase deficiency. The diagnosis of LOPD was confirmed genetically. Both sisters subsequently developed proximal muscle weakness after pregnancy and started enzyme replacement therapy. Under treatment, gastrointestinal symptoms improved, but pain persisted. Conclusions: Clinicians should be aware of this atypical presentation of LOPD to enable earlier diagnosis and treatment. Muscle Nerve 52: 300–304, 2015
Pompe
disease, or glycogen storage disease type II, is an autosomal recessive disorder resulting in acid maltase deficiency and progressive muscle weakness. The disease onset varies from the classical infantile form to late-onset Pompe disease (LOPD). The classical presentation for LOPD consists of painless limb-girdle weakness followed by respiratory involvement. However, the diagnosis remains difficult and may be delayed, because LOPD can resemble other muscle diseases. This can lead to misdiagnosis, even in specialized centers.1–4 Because enzyme replacement therapy (ERT) is now available, early diagnosis permits earlier initiation of treatment. Thus, atypical presentations should be recognized.
Abbreviations: ACR, American College of Rheumatology; ALT, alanine amino transferase; AST, aspartate amino transferase; CK, creatine kinase; CT, computed tomography; DBS, dried blood sample; EMG, electromyography; ERT, enzyme replacement therapy; ESR, erythrocyte sedimentation rate; FVC, forced vital capacity; HLA, human leukocyte antigen; IU, international unit; LOPD, late onset Pompe disease; NADH-TR, nicotinamide adenine dinucleotide - tetrazolium reductase; PAS, periodic acid–Schiff; RhGAA, recombinant human aglucosidase alpha Key words: diagnosis; fibromyalgia; gastrointestinal function; glycogenosis type II; pain; Pompe disease Correspondence to: E. Salort-Campana; e-mail: [email protected] C 2015 Wiley Periodicals, Inc. V
Published online 20 February 2015 in Wiley Online Library (wileyonlinelibrary. com). DOI 10.1002/mus.24618
300
Fibromyalgia-Like Symptoms and Late-Onset Pompe Disease
We report 2 sisters who presented with an atypical form of LOPD characterized by fibromyalgialike pain and gastrointestinal symptoms. CASE REPORT
In 2000, the index patient, a 19-year-old woman was referred to the Rheumatology department due to widespread joint and muscle pain. The symptoms had begun when she was age 16 years and included abdominal pain and distension, diarrhea, and constipation. She complained of symmetric arthralgia, back pain, and widespread myalgia exacerbated by cold temperatures. She had no relevant personal or family history. She did not report exercise intolerance, difficulty in climbing or walking, or dyspnea. Clinical examination revealed specific tender points to palpation, as seen in fibromyalgia. Neurological examination revealed no abnormalities. Laboratory investigations revealed a moderately elevated serum creatine kinase (CK) level (794 IU/L; normal,
