Familial giant cell arteritis

Abstract

This is a case report of ‘familial giant cell arteritis’ in three siblings from northwest India. This is the first case report of ‘familial giant cell arteritis’ in a non-Caucasian family.

Background

So far, there has been no report of ‘familial giant cell arteritis’ (GCA) in a non-Caucasian family.

· Is this a prevalent health problem? No.

· Is there a clear message? Yes.

Case presentation

This is a first-person account of my family’s familial GCA experience. We are five siblings of Indian heritage, originally belonging to the Punjab state in northwest India. Three of us developed GCA, confirmed definitely by temporal artery biopsy, and all were diagnosed with GCA at large university hospitals. Following is a brief account about each sibling.

Sibling number 1 with GCA: I am a 93-year-old man, emeritus professor in the College of Medicine at the University of Iowa in southeast Iowa, USA. I developed GCA at age 84. My clinical findings at the onset of GCA were fever of unknown origin, erythrocyte sedimentation rate (ESR) >140 mm/hour and C reactive protein (CRP) of 17.1 mg (normal <0.5 mg).

Sibling number 3 with GCA: She is 83 years old, a retired school teacher. She developed GCA at age 60. Her initial symptoms were aching pains in the hips and thighs, muscle weakness, anorexia, weight loss and so on. Her ESR at onset was 103 mm/hour.

Sibling number 5 with GCA: He is 76 years old, a neurologist. He developed GCA at age 75. His initial symptoms were aching pains in the hips and thighs, muscle weakness, anorexia and fever. His initial ESR was 119 mm/hour and CRP was 6.1 mg (normal <0.5 mg).

Siblings 2 and 4 without GCA: Sibling number 2 is an 85-year-old woman, a housewife. Sibling number 4 is an 80-year-old man, a retired ophthalmologist.

Investigations

All three siblings with GCA had the diagnosis confirmed by ESR and CRP estimations, and temporal artery biopsies.

Differential diagnosis

Diagnosis of GCA was confirmed by the presence of systemic symptoms, elevated ESR and CRP, and temporal artery biopsies.

Outcome and follow-up

Following have been the follow-up durations of the three siblings:

Sibling number 1 with GCA: follow-up for 9 years.

Sibling number 3 with GCA: follow-up for 18 years.

Sibling number 5 with GCA: follow-up for 6 years.

GCA is under good control in all three of them, without any complication.

Discussion

Hereditary nature of GCA

GCA is most common among Caucasians, which suggests its hereditary nature. However, it has also been reported among non-Caucasians all over the world, for example, in Indians, Chinese, Koreans, Thais, Israelis, Arabs, Mexicans, African Americans and Alaskan Natives, but not as frequently as among Caucasians.¹ An association of GCA with the carriage of HLA-DRB1 alleles has been suggested.² In several reports, an increased prevalence of HLA-DR4 was described.³

In our family heredity, apart from us—three siblings with GCA—there is no history of GCA in anyone in four generations on paternal or maternal sides. Among us, siblings 1, 3 and 5 had GCA but not siblings 2 and 4. I consulted a professor of genetics in our College of Medicine. According to him, our pattern of inheritance is most likely autosomal recessive. Among the three of us with GCA, our sister developed GCA at much younger age than the two men. It is well established that GCA is about three times more common in women than in men.⁴

Genome sequencing may identify the responsible gene in a familial disorder. I did want to do that, but the following serious limitations made it impossible to do genome sequencing:

1. We siblings live in three continents; it is impossible to collect blood samples from all over the world, and most do not live in a situation where they could get local testing.

2. I tried to explore being tested myself, but totally failed in that attempt; no one was willing do that, for one reason or another. Therefore, although I wanted that to be done, there was no way I could get that done.

3. In all the reported cases of familial GCA in Caucasians, so far there is no information about genome (or exome) sequencing.

Patient’s perspective.

As mentioned above, giant cell arteritis (GCA) is a most important medical emergency in ophthalmology because its most dreaded complication is visual loss. Blindness in GCA is preventable if these patients are diagnosed early and treated immediately and aggressively. Fear of going blind is next to fear of death. It is critical that this need to be impressed strongly to the patient to prevent from going blind.

Learning points.

• Giant cell arteritis (GCA) is the most important medical emergency in ophthalmology.

• This is because its most dreaded complication is visual loss.

• Blindness in GCA is preventable if these patients are diagnosed early and treated immediately and aggressively.

• Therefore, it requires spread of awareness by physicians.

• Although there have been many reports of familiar GCA among the Caucasian population, none so far has been on non-Caucasians.

Ethics statements

Patient consent for publication

Not required.