Incomplete SAPHO Syndrome or Axial Spondyloarthritis
Qutab Shah, Sonia Sundanum, Aine Gorman, Angela Camon, Eileen Shinners, Ausaf Mohammad and Killian O’Rourke
Department of Rheumatology, Midlands Regional Hospital at Tullamore
We describe a case of a 25 years old female with a history of Lumbar spine / sacroiliac joint / left ischial tuberosity pain since 2010, worse since 2016 (With prominent night pain). There was no history of weight loss, night sweats, fever, rash, ocular symptoms and peripheral joint swelling or pain. There was no history of Psoriasis and inflammatory bowel disease. Her previous medical history included Iron deficiency anemia and hypovitaminosis D. List of her medication included Naproxen 500mg, Esomeprazole, Vitamin D3, Paracetamol, and Etoflam gel. No smoking history. Family history was positive for Rheumatoid arthritis (mother affected) and Psoriasis and Psoriatic arthritis (brother affected). Lab investigations between 2016-2019 revealed negative HLAB27, ANA, RF, CCP, immunoglobulins, Hepatitis B, C, and TB Quantiferon. Normal renal, liver bone pofiles, TFTs, B12, Folate, Ferritin and IgAtTG. Highest recorded CRP was 24.3 and ESR was 73 in 2016. Patient had only mild to moderate response to regular NSAIDS and a short course of steroids by GP. Imaging including CT Lumbar Spine, Abdomen/Pelvis and MRI Lumbosacral spine in 2016 was suggestive of osteomyelitis of left sacroiliac joint. Patient was thoroughly investigated by Infectious disease department in Dublin between years 2016-2018 and had a CT guided biopsies and aspirate of left SIJ in November 2016 and December 2018 which was negative for malignancy and infection including mycobacterium, Coxielle, Brucella, and Bartonella. However, it did show increased osteoblastic activity. No infiltrates. X-rays Chest and spine including cervical, thoracic, and pelvis/SIJ were noted normal. Subsequent MRI Lumbar spine /Pelvis and SIJ in November 2018 was again suggestive of left-sided erosive sacroilits and left ischial osteomyelitis but biopsy was negative for malignancy and infection. Isotope bone scan in Jan 2019 confirmed findings compatible with diffuse inflammation of left SIJ and sacral ala and also increased uptake at shoulders/AC/SC joints.
Based on MRI, CT and Isoptope bone scan findings, she does have osteitis, hyperostosis and synovitis. Her bone biopsy did show some focal increased osteoclastic activity. However she does not have any history of acne or pustulosis. Therefore it is likely that the main differential for this patient’s inflammatory arthritis could be SAPHO(Synovitis , Acne, Pustulosis, Hyperostosis, Osteitis) Syndrome which is a rare syndrome but it can cluster in families who are affected with psoriasis or psoriatic arthritis. The other possibility is an axial spondyloarthritis and she would be predisposed to this because of her family history of psoriasis and psoriatic arthritis.
SAPHO Syndrome does not have any controlled data for any drug interventions. Treatment effectiveness is based on small studies of individual cases or case series for the most part but certainly anti TNF alpha drugs do seem to help these patients. Patient has been commenced on Anti-TNF in June 2019. Further details will be discussed.