Periodontal condition and treatment in a patient with rare systemic condition: A case report for acid sphingomyelinase deficiency

Background Acid sphingomyelinase deficiency (ASMD) is a rare group of autosomal recessive disorders. This report provides the first detailed description of the periodontal condition and treatment response in a patient with chronic visceral ASMD. Case description A 49‐year‐old white woman with ASMD showed elevated visible plaque index (VPI), gingival bleeding index (GBI), and bleeding on probing (BOP) at 100% of sites. Periodontal pocket depths (PPD) were mostly shallow to moderate (at 96% of sites), whereas the loss of clinical attachment (CAL) was moderate to severe (54% and 46% of sites, respectively, at 4‐6 mm and ≥7 mm categories). Periapical radiographs revealed the presence of furcation involvement and intra‐bony defects. The periodontal diagnosis was periodontitis stage IV, generalized, grade C. Ninety days after the end of the supra and subgingival control (e.g., cause‐related therapy), marked reduction was observed for all periodontal indicators: VPI (‐83%), GBI (‐79%), BOP (‐85%), elimination of sites PPD ≥7 mm, 27% increase in sites PPD 1‐3 mm (from 64% to 91%), and gain of clinical attachment (gain of 11% CAL 1‐3 mm and 25% CAL 4‐6 mm; and a reduction of 36% CAL ≥7 mm). Practical implications Despite the severity of the initial periodontal condition, the patient with chronic visceral ASMD responded well to the non‐surgical periodontal treatment.