SLC29A3 Spectrum Disorder – aka H. syndrome; Pigmented Hypertrichosis with Insulin-dependent Diabetes Mellitus (IDDM); Faisalabad Histiocytosis and Sinus Histiocytosis with Massive Lymphadenopathy

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Acronym:
SLC29A3

SAID group:
SLC29A3 related

Gene:
SLC29A3

Inheritance:
Autosomal recessive.

Ethnicity:
Unknown. Many patients with Middle Eastern ancestry. Some from India, Pakistan, Spain, Bulgaria. [70]

Frequency:
Unknown but rare.

Timing of symptoms:
Fever 39°C with flares that last 7-10 days with joint and abdominal pain; pericarditis and sometimes diarrhea. Flares occur once every 2-3 months. [70]

Age of onset:
Onset in infancy-starting with recurrent fevers and flares. Chronic and progressive systemic symptoms develop. [69] [70] [71]

Skin cutaneous:
Hyperpigmentation with hypertrichosis. [69] [70] [71] [72] Some with notable varicose veins on the legs. [69]

Neurologic:
Fever 39°C with flares lasting over a week. [69] [70] Psychomotor impairment or delays. Dysmorphic facial features noted. [69] [70]

Auditory:
Sensorineural hearing loss, from early infancy or childhood. [69] [70]

Ophthalamic:
Uveitis. Vision loss or blindness can occur from anterior uveitis and glaucoma. Ptosis, eyelid swelling from histiocytic deposits are noted. [69] [70] [71]

Cardiopulmonary:
Pericarditis with flares. Cardiac defects noted: ASD, VSD, PDA, mitral valve prolapse, cardiomegaly and other findings. [69] [70]

Abdominal:
Diabetes Mellitus. Hepatosplenomegaly. Abdominal pain, diarrhea, failure to thrive. Hypogonadism. [69] [70]

Lymphatic:
Lymphadenopathy. Rosai-Dorfman sinus histiocytosis with massive lymphadenopathy. [69] [70] [71]

Joints bones muscles cartilage:
Short stature. Arthralgias. Dysmorphic facial features: triangular face, rotated ears, macrocrania, exophtalmia. Pectus excavatum, wide-set nipples, widened ribs, long bone changes, short, square hands, sacrococcygal dimple, contractures. [69] [70]

Vasculitis:
Not noted. Some with varicose veins on the legs. [69]

Amyloidosis:
Not noted. [69] [70] [71] [72]

Abnormal labs:
Chronically elevated, but increase during flares: CRP, ESR, WBC. High during flares: IgG, Ig A. Anemia. [69] [70] [71] [72]

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