PFAPA OR HYPER IgD SYNDROME? - A CASE REPORT
D. Chaturvedi*, M. Mantan**, M. Das***, D. Mishra ****
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Background
PFAPA syndrome is a chronic disease of unknown cause characterized by periodic episodes of high fever, aphthous stomatitis, pharyngitis, cervical adenitis often associated with headache, abdominal or joint pains.

Hyper IgD syndrome is associated with periodic febrile attacks, lymphadenopathy, abdominal pain, diarrhea, hepatosplenomegaly and cutaneous signs. Diagnosis is primarily clinical associated with raised serum IgD levels, low activity of enzyme mevalonate kinase and MVK gene mutation analysis.

We are reporting two sisters who presented with similar signs and symptoms compatible with either of the above mentioned conditions.
Case 1
A 13 years old girl presented with history of recurrent episodes of high grade fever with chills and rigors, tonsillopharyngitis, arthralgia, stomatitis and urticarial rash since the age of 4 years. There was no history of photosensitivity, ocular symptoms, chronic diarrhea, genital ulcers or any neurological manifestations.

On examination the height and weight were found to be below 3rd centile for age. She was normotensive. The child had oral ulcers with mucosal thickening and anemia. Fundus and slit lamp examination was normal. There were no joint deformities. Systemic examination revealed marked hepatosplenomegaly.

Lab evaluation showed microcytic hypochromic anemia, mild leucocytosis with normal platelet counts, markedly elevated ESR and CRP. Kidney and renal functions were normal. RA factor, ANA, anti dsDNA and anti-endomysial antibodies were negative. The immunological profile revealed markedly elevated IgA (4 times the normal range), IgG) 2 times the normal) and raised IgD levels. The IgM and IgE levels were normal. The CD4-CD8 (0.7) ratio was altered Pathergy test was negative. The X-ray films of chest and sinuses and ultrasonography of abdomen were normal. Blood, throat and urine cultures were negative. ELISA for HIV was found to be nonreactive.
Case 2
Younger sib of the case 1 (11 year old girl) presented with history of recurrent high grade fever with chills and rigors, joint pains, epistaxis, abdominal pain and tonsillopharyngitis since the age of 5 years.

On examination height and weight was found to be below 3rd centile. She was normotensive and anemic. The child had oral ulcers. The ophthalmological examination was normal. There were no joint deformities. Systemic examination revealed marked hepatosplenomegaly.

Lab evaluation showed microcytic hypochromic anemia, mild leucocytosis with normal platelet counts and markedly elevated ESR and CRP. Biochemistry was normal. RA factor, ANA, anti dsDNA and anti endomysial antibodies were negative. The immunological profile revealed markedly elevated IgA (5 times the normal range). The IgD, IgM and IgE levels were normal. CD4-CD8 (1:1) ratio was altered. Pathergy test was negative. Radiological investigations were normal. Blood, throat and urine cultures were negative. ELISA for HIV was negative.

MVK enzyme and gene analysis could not be done.

Treatment: Initial treatment with NSAIDS (Ibugesic and Naproxen) had shown no improvement. After a detailed reevaluation a possibility of PFAPA or hyper IgD was kept. A short course of steroids (Prednisolone at 2 mg/kg) was given for 3 days to both of them. Symptomatic improvement occurred in one of the sibs.

Conclusion: PFAPA is a sporadic condition and has not been reported as familial. The presence of similar condition in the sib goes against the diagnosis of PFAPA. Hyper IgD syndrome appears to be a more likely possibility but we do not have the facility for further confirmatory tests. The two patients are in our regular follow up and a short course of prednisolone has been planned for their future episodes.

Department of Pediatrics, Maulana Azad Medical College and Associated Hospitals (CNBC), Delhi , E-mail: muktamantan@hotmail.com
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