Relation of gelsolin amyloidosis and periodontal health.

OBJECTIVE: Hereditary gelsolin amyloidosis (AGel amyloidosis) is a rare, dominantly inherited systemic disease with worldwide distribution, caused by a gelsolin gene mutation. We studied the periodontal conditions and microbiological plaque composition of AGel amyloidosis patients. MATERIAL AND METHODS: A voluntary study group of 36 AGel amyloidosis patients (mean age 61) filled in a questionnaire. A thorough periodontal examination included periodontal pocket depth and attachment level measurements, registrations of visible plaque, bleeding on probing and panoramic radiographs. The presence of oral Candida was studied by fungal culture method. Bacterial samples from deepened pockets (≥4 mm) were analyzed with checkerboard DNA-DNA hybridization method. RESULTS: VPI (15.3 %) and BOP (11.2 %) of the patients were modest reflecting relatively adequate oral self-care. Still 89 % of the patients had at least one PPD of ≥4 mm; 78.5 % of the PPDs ≥6 mm were found in molars. Patients had lost one third of the molars due to periodontitis and/or tooth decay. Half of the patients (53 %) were Candida carriers. Bacterial analysis of subgingival plaque samples revealed bacterial species common to chronic periodontitis. CONCLUSION: AGel amyloidosis may increase the risk for periodontitis even when the oral self-care is adequate. Molar teeth appear to be mostly affected, leading to tooth loss. CLINICAL RELEVANCE: AGel amyloidosis as a systemic disease is related with a vast variety of symptoms with variable severity. Even though a causal relationship of the systemic disease and periodontitis has not yet been proven, increased risk for periodontal problems should be considered when examining AGel amyloidosis patients.

A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.

Pompe disease is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid alpha-glucosidase (GAA) enzyme. Herein we report the first diagnosed Finnish patient with a phenotype compatible with the late-onset form of Pompe disease. Molecular genetic analysis of the GAA gene revealed a novel missense mutation, 1725C>A (Y575X), combined with a previously reported mutation, 1634C>T (P545L). Human recombinant alpha-glucosidase enzyme (alglucosidase-alpha) treatment was initiated for this patient at age 20 years. After 12 months she was no longer fully wheelchair-bound, and muscle strength had improved. No disease progression was visible on muscle magnetic resonance imaging of the lower limbs, and the energy state of the muscle cells increased by 46% on phosphorus magnetic resonance spectroscopy. Overall, our findings suggest that enzyme replacement therapy is indicated, even in patients with late-onset Pompe disease, to halt disease progression and improve the quality of daily life.